Volume 19; Issue 8-9

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Neuromuscular Disorders
Volume 19; Issue 8-9

Neuromuscular Disorders

Volume 19; Issue 8-9

1

Author Index

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 138 KB

english, 2009

2

M.I.1 New methods for assessing disease progression in neuromuscular disorders: Assessment of strength and function

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 106 KB

english, 2009

3

M.I.2 Metabolic assessments of muscle disease

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 106 KB

english, 2009

4

M.I.3 Quantitative assessment of skeletal muscle by NMR: Current and future approaches

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

5

M.I.4 Discovering biomarkers for monitoring neuromuscular diseases: A turning point

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

6

M.I.5 The dystrophic dogs as an excellent animal model of Duchenne muscular dystrophy (DMD)

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

7

G.O.1 Diagnosis of muscular dystrophies at the nanometer scale

S. Puttini, M. Lekka, T. Kuntzer, N. Mermod, A. Kulik

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

8

G.O.2 A primary sequence motif underlying calpain 3 substrate cleavage

A. de Morrée, D. Lutje Hulsik, A. Impagliazzo, H.H.B. van Haagen, P. de Galan, A. van Remoortere, P.A.C. ’t Hoen, R.R. Frants, S.M. van der Maarel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

9

G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD

J.C. de Greef, R.J.L. Lemmers, B.G.M. van Engelen, S. Sacconi, S.L. Venance, R.R. Frants, R. Tawil, S.M. van der Maarel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

10

G.O.4 α-Actinin-3 regulates muscle glycogen phosphorylase: A potential mechanism for the metabolic consequences of the common human null allele of ACTN3

K.G.R. Quinlan, J.T. Seto, N. Turner, M. Floetenmeyer, D.G. Macarthur, J.M. Raftery, N. Yang, R.G. Parton, G.J. Cooney, K.N. North

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 56 KB

english, 2009

11

M.P.1.01 Pilot trial with cyclosporin A in patients with collagen VI myopathies

L. Merlini, A. Angelin, T. Tiepolo, P. Braghetta, P. Sabatelli, A. Zamparelli, A. Armaroli, M.E. Michelini, A. Ferlini, N.M. Maraldi, P. Bonaldo, P. Bernardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

12

M.P.1.02 SNT-MC17/idebenone in the treatment of Friedreich’s ataxia: Preliminary safety data from a 12-month European randomized, placebo-controlled study

J.B. Schulz, T. Meier, G.L. Holder

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

13

M.P.1.03 Preliminary results from single subcutaneous administration of ACE-031, a form of the soluble activin type IIB receptor, in healthy postmenopausal volunteers

N.G. Borgstein, C.H. Condon, Y. Yang, D.M. Wilson, E. Haltom, J.L. Lachey, J. Seehra, M.L. Sherman

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

14

M.P.1.04 Comparison of disease-causing mutations in Duchenne muscular dystrophy from the Cooperative International Neuromuscular Research Group with two large DMD mutation databases

L.P. Hache, E. Feingold, D. Escolar, C. McDonald, P.R. Clemens

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

15

M.P.1.05 Frequency of dystrophin gene mutations in the DuchenneConnect registry

V. Rangel Miller, G. Spinella, P. Furlong

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

16

M.P.1.06 An international registry for FKRP (fukutin-related protein) patients-the first international registry

T.A. Willis, M.C. Walter, K.M.D. Bushby, H. Lochmuller, V. Straub

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

17

M.P.1.07 The Smartnet Clinical Network – Creation of a national standardised assessment tool and natural history database for spinal muscular atrophy

A.G. Mayhew, E. Scott, F. Muntoni, A. Manzur

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

18

M.P.1.08 Diagnosis of Pompe disease: Timing and methods used as reported to the Pompe registry

P.S. Kishnani, T. Miller, S. Prasad

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

19

M.P.1.09 TREAT-NMD Clinical Trials Coordination Centre: Efficiency of networking

K. Gramsch, A. Pohl, J. Kirschner, R. Korinthenberg, S. Geismann, A. Tassoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

20

EM.P.1.01 Prevention of muscle fibrosis and myonecrosis in mdx mice by suramin, a TGF-β 1 blocker

M.J. Marques, A.P.T. Taniguti, A. Pertille, H. Santo Neto

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

21

EM.P.1.02 Long-term activin receptor type IIB inhibition improves strength and function of dystrophic muscle

J.L. Lachey, S. Bogdanovich, E.E. Pistilli, A.E. Pullen, J. Seehra

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

22

EM.P.1.03 Potential involvement of angiotensin II in pathological signs of dystrophic muscle: In vivo and ex vivo outcome of a chronic treatment with enalapril, an angiotensin-converting enzyme inhibitor, in the exercise-aggravated mdx mouse model

A. Cozzoli, V. Sblendorio, R.F. Capogrosso, B. Nico, D. Conte Camerino, A. De Luca

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

23

EM.P.1.04 Treatment approaches in laminin-α2-deficient congenital muscular dystrophy (MDC1A)

S. Meinen, S. Lin, M.A. Rüegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

24

EM.P.1.05 Heparan sulfate-dependent interaction of myostatin and syndecan-4

A. Keller-Pinter, L. Mendler, L. Dux

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

25

EM.P.1.06 Extracellular matrix metalloproteinase protein inducer (EMMPRIN/CD147) regulates myoblast differentiation through an MMP-mediated control of TGFb activity

M. Attia, E. Huet, S. Gawrzak, S. Menashi, I. Martelly

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

26

EM.P.1.07 Effects of muscle hypertrophy on individual myonuclear domain sizes in single muscle fibers from myostatin deficient or IGF-1 over-expressing mice

R. Qaiasr, K. Morine, E.R. Barton, H.L. Sweeney, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

27

EM.P.1.08 Low temperature-induced inhibition of myogenic differentiation is cancelled by IGF-I and vitamin C

A. Shima, R. Matsuda

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

28

EM.P.2.01 Expression analysis of α-dystroglycan glycosyltransferases during myoblast-myotube differentiation

M. Brockington, S. Torelli, C. Godfrey, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

29

EM.P.2.02 Secretion of the N-terminal domain of α-dystroglycan in the human cerebrospinal fluid in physiological and pathological conditions

K. Matsumura, F. Saito, Y. Saito-Arai, M. Ikeda, A. Nakakmura, T. Shimizu

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

30

EM.P.2.03 An investigation of candidate genes in dystroglycanopathy patients

C. Godfrey, E. Clement, S. Torelli, M. Brockington, S. Abbs, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

31

EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations

M.C. Manzini, D. Gleason, B.S. Chang, R.S. Hill, J.N. Partlow, B.J. Barry, A. Poduri, L. Basel-Vanagaite, M.Z. Seidhamed, M.A.M. Salih, W.B. Dobyns, C.A. Walsh

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

32

EM.P.2.05 Congenital muscular dystrophy with defective α-dystroglycan glycosylation, cerebellar hypoplasia and severe epilepsy

S. Messina, G. Tortorella, M. Spanò, D. Concolino, A. d’Amico, C. Bruno, F.M. Santorelli, E. Mercuri, E. Bertini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

33

EM.P.2.06 Two siblings with alpha-dystroglycan dysglycosylation myopathy, epilepsy and personality disorder

J. Reimann, S. Moskau-Hartmann, D.J. Morris-Rosendahl, R. von Wrede, C. Kornblum

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

34

EM.P.2.07 Frequency of fukutinopathy in Japanese cardiomyopathy patients with myopathy

H. Matsumoto, Y.K. Hayashi, T. Murakami, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

35

EM.P.2.08 Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

S. Saredi, E. Mottarelli, A. Ruggieri, A. Ardissone, S. Zanotti, L. Farina, L. Morandi, I. Moroni, M. Mora

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

36

EM.P.2.09 Spectrum of mutations and phenotypic variability in FKRP-related disease in Norway

E. Stensland, S. Lindal, C. Jonsrud, T. Torbergsen, M. Rasmussen, L. Bindoff, F.M. Thyssen, Ø. Nilssen

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

37

EM.P.2.10 Deficiency of multiple alpha dystroglycan ligand interactions underlie the phenotype of a FKRP-deficient mouse model for muscle eye brain disease

M.R. Ackroyd, S. Prior, C. Whitmore, M. Kaluarachchi, F. Muntoni, S.C. Brown

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

38

EM.P.2.11 Fukutin-related protein expression in murine dystrophic models carrying single and double mutations for dystrophin and LARGE

P.C.M. Martins, D. Ayub-Guerrieri, V.L. Ferreira, P.C. Onofre-Oliveira, G. Monteiro, D. Zilbersztajn, L.U. Yamamoto, C.M.C. Mori, L.E.S. Netto, M. Vainzof

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

39

EM.P.2.12 Walker-Warburg syndrome: LARGE mutation in two sibs. The difficulty of prenatal diagnosis

A. d’Amico, C. Bruno, E. Silvestri, P. Alfieri, G. Vasco, A. Tessa, F.M. Santorelli, E. Bertini, E. Mercuri

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

40

EM.P.2.13 Overexpression of LARGE strongly increases laminin binding of α-dystroglycan but does not exhibit toxic effects in mice

F. Saito, Z. Xin, M. Ikeda, H. Hagiwara, T. Shimizu, K. Matsumura

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

41

G.P.1.01 Phenotypic variations of central core disease

O. Paciello, A. Tammaro, L. Passamano, M. Scutifero, E. Picillo, A. Di Martino, S. Papparella, L. Politano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

42

G.P.1.02 Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations

K.G. Claeys, N. Monnier, P. Laforet, G. Brochier, A. Ferreiro, A. Barois, B. Eymard, J. Lunardi, M. Fardeau, N.B. Romero

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

43

G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

J. Dowling, S. Lillis, K. Amburgey, S. Leber, H. Zhou, S. Al-Sarraj, E. Wraige, S. Abbs, C. Sewry, F. Muntoni, H. Jungbluth

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

44

G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene

J. Wilmshurst, S. Lillis, H. Zhou, W. Kress, R. Solomon, A. Ndondo, J. Greenberg, C.C. Sinclair-Smith, E. Bertini, C. Boennemann, V. Straub, R. Quinlivan, C.A. Sewry, E. Wraige, S. Abbs, F. Muntoni, H

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

45

G.P.1.05 RYR1 is a common cause of congenital fibre type disproportion with ptosis, ophthalmoplegia, scoliosis and pronounced axial muscle weakness

N.F. Clarke, N. Monnier, R.L.L. Smith, A.J. Kornberg, M.A. Farrell, L. Waddell, S. Cooper, J. Lunardi, K.N. North

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

46

G.P.1.06 An atypical presentation of lethal neonatal hypotonia associated with a genomic rearrangement of the RYR1 gene

N. Monnier, A. Laquerière, S. Marret, A. Goldenberg, S. Drouhin, J. Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

47

G.P.1.07 Progressive muscle biopsies morphological changes in long-term follow-up of multiminicore disease related to RYR1 gene

A.L. Taratuto, M. Saccoliti, F. Lubieniecki, N. Monnier, N. Romero, P. Richard, J. Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

48

G.P.1.08 Calcium influx analysis by TIRF microscopy on cultured primary myotubes from patients with RYR1 mutations

S. Treves, P.Y. Jeannet, M. Vukcevic, T. Girard, A. Urwyler, F. Zorzato

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

49

G.P.1.09 Clinical, pharmacological and molecular investigation of patients presenting with exertional heat stroke

N. Monnier, D. Bendahan, G. Kozak-Ribbens, C. Foutrier-Morello, C. Brosset, E. Sagui, M. Aubert, M. Lamaria, N. Tessier, P.J. Cozzone, J. Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

50

G.P.1.10 DHPR α1 S subunit controls skeletal muscle mass and morphogenesis

F. Piétri-Rouxel, C. Gentil, D. Baas, E. Mouisel, C. Hourdé, A. Ferry, A. Vignaud, L. Schaeffer, T. Voit, L. Garcia

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

51

G.P.2.01 Acute Quadriplegic Myopathy: Underlying mechanisms, improved diagnostic methods and specific intervention strategies

L. Larsson, A.M. Gustafson, J. Ochala, V. Banduseela, M. Li, S. Aare, Y. Hedström, R. Qaisar, M. Llano Diaz, X. Tang, B.R. Dworkin

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

52

G.P.2.02 Aspiration muscle biopsy for monitoring and diagnosis of Acute Quadriplegic Myopathy

Y. Hedström, V. Banduseela, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

53

G.P.2.03 Partial reversal of ventilator-induced diaphragm muscle cell dysfunction

J. Ochala, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

54

G.P.2.04 Gene expression and muscle fiber function in a porcine AQM-ICU model

V. Banduseela, J. Ochala, Y. Chen, H. Goransson, H. Norman, P. Radell, L.I. Eriksson, E. Hoffman, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

55

G.P.2.05 Expression profile and functional analysis of masticatory muscle in porcine AQM-ICU model

S. Aare, V. Banduseela, J. Ochala, H. Goransson, H. Norman, P. Radell, L.I. Eriksson, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

56

G.P.2.06 Diaphragm muscle weakness in an experimental intensive care unit model

J. Ochala, M. Llano-Diez, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

57

G.P.3.01 An adult case of myopathy due to mutations of the TK2 gene

A. Béhin, C. Jardel, K. Claeys, T. Beillevaire, A. Lombès, B. Eymard

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

58

G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

R. Massa, A. Tessa, M.A. Margollicci, A. Romigi, C. Terracciano, R. Carrozzo, G. Bernardi, F.M. Santorelli

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

59

G.P.3.03 Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle

R. McFarland, H. Tuppen, L. He, E.L. Blakely, A.A.M. Morris, M. Clarke, S. Jones, A.M. Devlin, R.W. Taylor

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

60

G.P.3.04 Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients

C. Fratter, G. Gorman, J.D. Stewart, M. Buddles, C. Smith, J. Evans, A. Seller, J. Poulton, M. Roberts, M.G. Hanna, S. Rahman, S.E. Omer, T. Klopstock, B. Schoser, C. Kornblum, B. Lecky, P.F. Chinnery

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

61

G.P.3.05 A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency

C. Alston, C. Reid, R. Horvath, H. Mundy, R.W. Taylor

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

62

G.P.3.06 Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation

M. Al-Dosary, R. Whittaker, J. Hood, R. McFarland, J.A. Goodship, D.M. Turnbull, R.W. Taylor

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

63

G.P.3.07 Novel mutation in SUCLA2 gene: Encephalomyopathy, dystonia and deafness associated with mild methylmalonic aciduria and mtDNA depletions

A.E.N. Nascimento Osorio, A.N.S. Navarro-Sastre, J.C. Colomer, C.P. Paredes, A.G. Gutierrez, C.O. Ortez, M.V. Vilaseca, J.M. Montoya, T.R. Ribes

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

64

G.P.3.08 Myoclonic epilepsy, cortical dysplasia and mitochondrial complex I deficiency: A case report

C. Nesti, M. Mancuso, L. Petrozzi, F.M. Santorelli, A. Rocchi, G. Ali, A. Tessa, A. LoGerfo, A. Iudice, G. Siciliano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

65

G.P.3.09 Cerebellar ataxia, myopathy and sensorimotor neuropathy associated with a mitochondrial m.8363G > A tRNA(Lys) gene mutation: A clinical and biochemical study

E. Brusse, A. Korsten, G. Schoonderwoerd, D. Hellebrekers, J.A. Maat-Kievit, H.J.M. Smeets, I.F.M. De Coo

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

66

G.P.3.10 Oxidative stress biomarkers are related to disease severity in mitochondrial myopathies, and may be modified by a cysteine donor

M. Mancuso, D. Orsucci, A. Lo Gerfo, G. Santoro, C. Nesti, A. Rocchi, L. Petrozzi, F. Galetta, G. Siciliano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

67

G.P.3.11 Increased protein nitration in mitochondrial diseases: Evidence for vessel wall involvement

G. Vattemi, Y. Mechref, M. Marini, P. Tonin, P. Minuz, L. Grigoli, Klouckova, C. Chiamulera, A. Meneguzzi, M. Di Chio, V. Tedesco, L. Lovato, M. Degan, M. Filosto, G. Arcaro, M. Riccadonna, V. Gugliel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

68

G.P.4.01 Charcot-Marie-Tooth type 1E in monozygotic twins linked to a rare PMP22 mutation

A. Matos, L. Negrão, A. Geraldo, S. Batista, A. Palmeiro, M.P. Tavares

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

69

G.P.4.02 The impact of silicone ankle foot orthosis (SAFO’s) in patients with Charcot-Marie-Tooth (CMT) disease on cadence, balance and falls

N. Cartwright, S.L. Glover

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

70

G.P.4.03 Clinical, electrophysiological and genetic finding in three patients with CMT4A

C. Ortez, A. Nascimento, S. Kapetanovic, A. Gutierrez, F. Palau, J. Colomer

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

71

G.P.4.04 A new MTMR2 mutation is responsible for a congenital form of Charcot-Marie-Tooth disease (CMT4B1) and vocal cord paresis

M. Tazir, S. Nouioua, T. Hamadouche, R. Bernard, D. Grid, N. Levy, J.M. Vallat

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

72

G.P.4.05 Clinical and electrophysiological findings in the course of childhood Guillain–Barré syndrome: 10 years experience in a pediatric neuromuscular unit

A.P. Gutiérrez Mata, A.E. Nascimento Osorio, C.I. Ortez González, J. Colomer Oferil

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

73

G.P.4.06 Dislocation of neuronal nitric oxide synthase contributes to muscle atrophy in amyotrophic lateral sclerosis

N. Suzuki, M. Aoki, H. Warita, S. Takeda, Y. Itoyama

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

74

G.P.4.07 Skeletal muscle regeneration in amyotrophic lateral sclerosis

A. Scaramozza, A. Corbu, A. Aiti, V. Papa, L. Tarantino, L. Badiali De Giorgi, E. Pegoraro, G. Soraru, C. Angelini, G.N. Martinelli, G. Cenacchi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

75

G.P.4.08 Flexor-dominant myopathic phenotype in patients with His46Arg substitution in the Cu/Zn superoxide dismutase gene

S. Yamashita, E. Kimura, F. Yamamoto, A. Migita, S. Mita, H. Teramoto, M. Uchino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

76

G.P.4.09 Multiple analysis of hereditary spastic paraplegia

N.H. Akcakaya, Ç. Atay, N. Isik, F.I. Uludað, F. Deymeer, P. Serdaroglu, E. Battaloðlu, Y. Parman

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

77

G.P.5.01 Retrospective study of 29 cases of distal myopathies

J. Franques, E. Campana-Salort, S. Attarian, A. Verschueren, C. Fernandez, A. Maues de Paula, D. Figarella-Branger, J. Pouget

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

78

G.P.5.02 Distal myopathy with rimmed vacuoles (DMRV): Experience of a rare disorder

A. Nalini, N. Gayathri

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

79

G.P.5.03 Genotype–phenotype correlation of DMRV/hIBM patient in Japan

K. Momma, S. Noguchi, Y.K. Hayashi, K. Motoyoshi, K. Kamakura, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

80

G.P.5.04 Ultrastructural evidence of amyloidogenesis: An upstream event to myofiber degeneration in a mouse model of DMRV/hIBM

T. Tokutomi, M.C. Malicdan, S. Noguchi, I. Nonaka, Y.K. Hayashi, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

81

G.P.5.05 The evaluation of N-acetylmannosamine in model mouse towards the development of therapeutic strategy in DMRV/hIBM

S. Noguchi, M.C.V. Malicdan, Y.K. Hayashi, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

82

G.P.5.06 In vitro assessment of AAV8 based gene delivery for hereditary inclusion body myopathy

M. Telem, Z. Shlomai, S. Mitrani-Rosenbaum

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

83

G.P.5.07 New monoclonal antibodies against the C-terminal M10 domain of titin

J. Sarparanta, O. Raheem, P. Hackman, B. Udd

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

84

G.P.5.08 Myofibrillar myopathies: The Lausanne experience with DES mutations in 11 patients

M. Dunand, J.A. Lobrinus, F. Thonney, X. Jeanrenaud, D. Selcen, S. Rudnik-Schöneborn, J.M. Burgunder, T. Kuntzer

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

85

G.P.5.09 Screening the FHL1 mutation in Japanese patients with non-4q35 FSHD

X.J. Xiao, K. Goto, S. Noguchi, Y.K. Hayashi, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

86

G.P.5.10 Novel FHL1 mutation in familial mixed reducing body myopathy with rigid spine

J. Schessl, A. Columbus, Y. Hu, Y. Zou, T. Voit, H.H. Goebel, C.G. Bönnemann

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

87

M.P.2.01 Reliability of the north star ambulatory assessment in a multicentric setting

E.S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, C. Bruno, L. Politano, A. Berardinelli, T. Mongini, A. Pini, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Villanova, G. Vita, E.

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

88

M.P.2.02 Motor function measure: construction of a short form (MFM-20) for children with neuromuscular disease aged between 2 and 6

C. de Lattre, C. Payan, C. Payet, C. Fafin, F. Girardot, A. Jouve

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

89

M.P.2.03 The Motor Function Measure (MFM): Sensitivity to change

C.A.M. Payan, C. Vuillerot, J. Fermanian, C. Bérard

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

90

M.P.2.04 Bioengineering and muscular dystrophy

M.G. d’Angelo, M. Romei, S. Gandossini, S. Bonato, D. Colombo, E. Marchi, A. Lo Mauro, A.C. Turconi, G.P. Comi, A. Aliverti, N. Bresolin

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

91

M.P.2.05 Optoelectronic plethysmography in respiratory assessment in Duchenne muscular dystrophy

M. Romei, M.G. d’Angelo, S. Gandossini, S. Bonato, G.P. Comi, D. Colombo, E. Marchi, A. Lo Mauro, A. Aliverti, N. Bresolin

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

92

M.P.2.06 External control of exhalation for cough assistance: a method for patients with glottis dysfunction

S.C. Lee, S.W. Kang, S.H. Im

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

93

M.P.2.07 The benefits of lung inflation training using positive end-expiratory pressure valve for patients with neuromuscular disorders

T. Matsumura, T. Saito, H. Fujimura, S. Shinno

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

94

M.P.2.08 Use of the motor function measure to assess motor function in patients with spinal muscular atrophy

C. Vuillerot, C. Payan, C. Bérard

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

95

M.P.2.09 Mdx diaphragm muscle as a target of dystrophin gene therapy

E. Kimura, T. Suga, M. Ishizaki, K. Uchino, T. Koide, Y. Uchida, Y. Maeda, J.S. Chamberlain, M. Uchino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

96

EM.P.3.01 The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2

N. Canki-Klain, C. Béroud, N.F. Clarke, I. Kovac, S. Chambert, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

97

EM.P.3.02 Intracellular signaling pathway alterations in laminin α2 chain deficient skeletal muscle and brain

V. Carmignac, M. Durbeej-Hjalt

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

98

EM.P.3.03 Differential expression of genes involved in muscular degeneration in four dystrophic mouse models

P.C.G. Onofre-Oliveira, P.C.M. Martins, V.L. Ferreira, D. Ayub-Guerrieri, M. Vainzof

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

99

EM.P.3.04 Muscle-derived Duchenne muscular dystrophy fibroblasts show altered production of extra-cellular matrix components

S. Zanotti, S. Gibertini, S. Saredi, F. Blasevich, R. Mantegazza, L. Morandi, M. Mora

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

100

EM.P.3.05 Expression of fibulins 1–5 during myogenesis in vitro and in skeletal muscle regenerating in vivo, and in dystrophic mdx muscles

M.D. Grounds, T. Shavlakadze, J. Vukovic

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

101

EM.P.3.06 Transient upregulation of matrilin-2 gene expression suggests a role in early steps of skeletal muscle regeneration

É. Korpos, L. Mátés, L. Mendler, M. Kiricsi, Á. Zvara, F. Deák, Z. Rottenberger, A. Keller-Pintér, L. Puskás, L. Dux, I. Kiss

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

102

EM.P.3.07 The fate of glycosaminoglycans (GAGs) during skeletal muscle regeneration and myoblast differentiation

M. Oudghir, A. Duchesnay, T. van Kuppevelt, I. Martelly

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

103

EM.P.3.08 Matrix matters in man and mouse

N.C. Voermans, B.G. van Engelen

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

104

T.P.1.01 Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring

M. Neri, M.S. Falzarano, M. Fabris, M. Bovolenta, E. Bassi, D. Perrone, A. Medici, P. Sabatelli, L. Merlini, F. Gualandi, P. Rimessi, A. Ferlini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

105

T.P.1.02 Importance of checking exon skipping events prior to clinical trials using systemically delivered antisense morpholino in Duchenne muscular dystrophy patients

S. Nakono, S. Ozasa, H. Kosuge, K. Nomura, I. Fujii, K. Ito, M. Matsukura, S. Kimura

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

106

T.P.1.03 In vitro splicing analysis reveals that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G>A mutations in introns of the dystrophin gene

M. Matsuo, Y. Habara, Y. Takeshima, H. Awano, Y. Okizuka, Z. Zhang, M. Yagi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

107

T.P.1.04 Dual exon skipping in myostatin and dystrophin as a potential therapy for Duchenne muscular dystrophy

D.U. Kemaladewi, W.M.H. Hoogaars, S.H. van Heiningen, J.C.T. van Deutekom, J.T. den Dunnen, G.J.B. van Ommen, A.R. Aartsma-Rus, P. ten Dijke, P.A.C. ’t Hoen

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

108

T.P.1.05 Trans-splicing approaches to repair Duchenne dystrophin transcripts

S. Lorain, C. Peccate, G. Griffith, T. Voit, L. Garcia

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

109

T.P.1.06 Induced non-productive splicing to study muscle gene expression

S.D. Wilton, S. Fletcher, A.M. Adams, R. Johnsen, K. Greer

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

110

T.P.1.07 Correcting SMN2 splicing with tailed antisense oligoribonucleotides: a promising therapeutic strategy for spinal muscular atrophy

H. Zhou, N. Owen, I.C. Eperon, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

111

T.P.1.08 The use of antisense oligomer for splice switching in spinal muscular atrophy fibroblasts

C. Mitrpant, C. Fragall, R. Johnsen, A.H. Burghes, S. Fletcher, S.D. Wilton

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

112

T.P.1.09 Oculopharyngeal muscular dystrophy (OPMD): Physiopathological mechanisms and gene therapy approaches

C. Trollet, O. Bales, Y. Anvar, K. Foster, K. Mamchaoui, P.A. ’t Hoen, V. Raz, S. van der Maarel, M. Antoniou, V. Mouly, G. Butler-Browne, G. Dickson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

113

T.P.1.10 Exon-skipping of dysferlin in CD133+ stem cells isolated from normal and patient affected with dysferlinopathies

C. Navarro, A. Farini, P. Razini, M. Krahn, L. Garcia, N. Lévy, Y. Torrente

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

114

T.P.1.11 Correction of endogenous DMPK transcripts by chimeric U2 small nuclear RNA – artificial trans-splicing molecules as therapeutic strategy in dystrophia myotonica type 1

H.Y. Chen, P. Kathirvel, Q.B. Xiong, P.S. Lai, W.C. Yee

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

115

T.P.2.01 Assessment of treatment efficiency using the mdx model: How to interpret the data?

M. Carre-Pierrat, L. Ségalat, L. Ségalat

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

116

T.P.2.02 Effect of 20 approved drugs on a wide range of mdx parameters

M. Carre-Pierrat, A. Lafoux, F. Fougerousse, C. Huchet-Cadiou, L. Ségalat

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

117

T.P.2.03 Erythropoietin application in mdx mice: A pilot trial

A.A.S. Carvalho, M.R. Ugollini, A.C. Santomauro JR, L.Z.P. Oliveira, V.P.P. Lioi, R.A. dosSantos, M.H.C. Carvalho, L.G. Ferreira, M.T. Nunes, S.B. Zyngier, D. Feder

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

118

T.P.2.04 Oral TNF alpha inhibitor in mdx dystrophic mice: A pilot trial

D. Feder, L.H. Brito, L.S. Saad, V. Oliveira, E.A.C. Barros, R.A. dosSantos, L.G. Ferreira, M.H.C. Carvalho, M.T. Nunes, S.B. Zyngier, A.A.S. Carvalho

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

119

T.P.2.05 Tamoxifen is more potent than raloxifene to ameliorate skeletal muscle function of adult mdx5Cv mice

O.M. Dorchies, J. Reutenauer, O. Patthey-Vuadens, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

120

T.P.2.06 Exploring the role of phospholipase A2 in Duchenne muscular dystrophy

A.K. Johansson, O. Petermann, O.M. Dorchies, E. Roulet, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

121

T.P.2.07 Attenuation of adverse effects of prednisolone on δ-sarcoglycan-deficient cardiomyopathy by mineralocorticoid-receptor-antagonism

A.M. Blain, R. Bauer, G. MacGowan, E. Greally, S. Laval, K. Bushby, V. Straub

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 56 KB

english, 2009

122

T.P.2.08 The stretch-activated calcium channel candidate proteins TRPC1 and 3 present a distinctly different expression pattern in mdx mice

L.H. Jorgensen, S.H. Laval, H. Brinkmeier, V. Straub, K. Bushby, H. Lochmuller

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

123

T.P.2.09 Role of the cationic channel TRPC1 in Duchenne muscular dystrophy: Analysis of double knock-out TRPC1−/− dystrophin− mice

C. Gallo, G. Shapovalov, O.M. Dorchies, O. Petermann, N. Zanou, P. Gailly, U.T. Ruegg, E. Roulet

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

124

T.P.2.10 Identification of in-vivo TRPC1 activity in skeletal muscle at single-channel level; role in Ca2+ entry

G. Shapovalov, N. Zanou, C. Gallo, I. Anguish, E. Roulet, P. Gailly, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

125

T.P.2.11 Comparison of subcutaneous injection and oral routes of administration of EGCG for ameliorating dystrophic lesions in a mouse model of Duchenne muscular dystrophy

Y. Nakae, O.M. Dorchies, P.J. Stoward, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

126

T.P.2.12 Nuclear factor-kappaB, mitogen-activated protein kinases and cyclooxygenase/5-lipoxygenase pathway inhibition by flavocoxid improves muscle function and morphology in mdx mice: a comparison study with methylprednisolone

S. Messina, M. Aguennouz, A. Mazzeo, A. Migliorato, A. Bitto, G.L. Vita, M. Russo, E. Rizzuto, A. Musarò, F. Squadrito, G. Vita

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

127

T.P.2.13 Evaluation of time-dependent effects of statins and fibrate ‘in vivo’ treatment on ClC-1 chloride channel expression and function and on proteomic profile of rat skeletal muscle

G.M. Camerino, S. Pierno, C. Digennaro, M.M. Dinardo, M.A. Pellegrino, A.L. George, R. Bottinelli, D. Conte Camerino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

128

G.P.6.01 Measurements of progression in dysferlin myopathies: A preliminary prospective quantitative study

C. Paradas, C. Serrano-Munuera, J. Llauger, M. Martı´nez-Lage, C. Márquez, P. Gallano, N. De Luna, R. Rojas-Garcı´a, E. Gallardo, I. Illa

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

129

G.P.6.02 Dysferlinopathy: Unilateral foot drop of late onset

L. Negrão, A. Matos, A. Geraldo, O. Rebelo, E. Vieira, C. Marques, R. Santos

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

130

G.P.6.03 Dysferlinopathy in Egypt: Clinical and pathological characteristics

N. Fahmy, A. Abd-elhady, A. Abd El-Naser, S. Ashour, I. Nonaka, A. Etribi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

131

G.P.6.04 Nitric oxide signaling in selective muscle wasting of Miyoshi myopathy

R. Dhanarajan, M. Alexander, A. Oommen

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

132

G.P.6.05 Attenuated muscle regeneration is a key factor in dysferlinopathy

Y.H. Chiu, S.H. Laval, L.H. Jorgensen, M.A. Hornsey, L. Klinge, R. Charlton, R. Barresi, V. Straub, H. Lochmuller, K. Bushby

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

133

G.P.6.06 Systematic screening for genomic deletions and duplications in the dysferlin gene using multiplex ligation-dependant probe amplification and CGH microarrays

M. Krahn, N. Wein, A. Borges, P. Bourgeois, V. Labelle, P. Negre, C. Pecheux, M. Bartoli, N. Lévy

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

134

G.P.6.07 The association of dysferlin and affixin is regulated by calcium concentration

C. Matsuda, K. Kameyama, I. Nishino, Y.K. Hayashi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

135

G.P.6.08 The evaluation of novel therapeutic strategies for the treatment of dysferlinopathy

M. Hornsey, Y. Chiu, L. Jorgensen, L. Klinge, S. Laval, R. Barresi, V. Straub, H. Lochmuller, K. Bushby

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

136

G.P.6.09 Immunolabelling and FACS as new tools to explore dysferlinopathies

W.N. Wein, K.M. Krahn, C.S. Courrier, S.C.E. Salort-Campana, N.K. Nguyen, F.C. Fernandez, P.J. Pouget, F.C. Fossat, D.D. Depetris, L.F. Leturcq, L.N. Lévy

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

137

G.P.7.01 Analysis of the nebulin gene by multiplex-ligation dependent probe amplification (MLPA) and methylation-specific MLPA

M. Lunkka-Hytönen, V.L. Lehtokari, C. Wallgren-Pettersson, K. Pelin

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

138

G.P.7.02 Studying the functional pathogenesis of nebulin: A giant myofibrillar protein

M. Hanif, M. Marttila, K. Pelin, M. Grönholm, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

139

G.P.7.03 Mutations in TPM2 and TPM3 causing nemaline myopathy or arthrogryposis

V.L. Lehtokari, H. Kalimo, K. Pelin, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

140

G.P.7.04 Mosaic of an ACTA1 mutation in a child with nemaline myopathy and cardiomyopathy

H. Amthor, S. Quijano-Roy, S. Drouhin, K.G. Claeys, J. Bataille, B. Estournet, N.B. Romero, N. Monnier, J. Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

141

G.P.7.05 Prognosis of neonatal onset nemaline myopathy without molecular diagnosis

L. Servais, S. Quijano-Roy, B. Estournet, N. Laing, T. Voit, N.B. Romero

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

142

G.P.7.06 Infantile onset muscle stiffness with marked myofibrillar disruption on muscle biopsy

K. Forrest, I. Bodi, S. Al-Sarraj, S.V. Tan, M. Pitt, R. Kayani, A. Durward, M. McDougall, M. Irving, H. Jungbluth, E. Wraige

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

143

G.P.7.07 A case of nemaline myopathy with dilated cardiomyopathy, who was treated with home mechanical ventilation

K. Nomura, S. Kimura, S. Ozasa

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

144

G.P.7.08 A new form of myopathy in four siblings with a distinctive muscle MRI pattern

J.M. Cuisset, N.F. Clarke, C.A. Maurage, G. Vaksmann, S. Maugenre, S. Quijano-Roy, N.B. Romero, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

145

G.P.7.09 Functional studies of aberrant beta-tropomyosin causing nemaline myopathy and cap myopathy

M. Marttila, E. Nuutinen, M. Hanif, T. Nyman, K. Donner, K. Pelin, M. Grönholm, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

146

G.P.7.10 Investigation of the patho-biology of MYH7 myopathy mutations

W. Wallefeld, K.J. Nowak, E. Ingley, W. Stanley, C. Bond, N. Laing

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

147

G.P.7.11 Central core and cap disease in a case of congenital myopathy

H. Karasoy, O.E. Ozbay, A.N. Yuceyar

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

148

G.P.7.12 Multiminicore myopathy caused by a mutation in MYH7

P.J. Lamont, W. Wallefeld, R. Junckerstorff, N.G. Laing

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

149

G.P.8.01 Diagnosis of Pompe disease using a rapid dried blood spot assayin patients with muscle weakness

J.L. Goldstein, S.P. Young, M. Changela, G.H. Dickerson, H. Zhang, J. Dai, D. Peterson, D.S. Millington, S. Prasad, P.S. Kishnani, D. Bali

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

150

G.P.8.02 High density on skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacuoles in childhood-onset Pompe disease

K. Ishigaki, I. Nonaka, R. Kuwatsuru, T. Murakami, K. Shishikukra, H. Suzuki, Y. Hirayama, M. Osawa

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

151

G.P.8.03 Misleading muscle biopsies in late onset Pompe’s disease

A.L. Taratuto, A. Dubrovsky, J. Corderi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

152

G.P.8.04 Vascular glycogen storage in Pompe disease demonstrated by epon-embedded muscle section

S. Mitsuhashi, I. Nonaka, S. Noguchi, Y.K. Hayashi, H. Sugie, T. Fukuda, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

153

G.P.8.05 The pharmacological chaperone AT2220 increases mutant acid alpha-glucosidase levels and reduces tissue glycogen in a mouse model of Pompe disease

R. Khanna, R. Soksa, J. Feng, Y. Lun, A.C. Powe, J. Flanagan, H. Do, D.J. Lockhart, K.J. Valenzano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

154

G.P.8.06 The Rotterdam Motor function Test: A valid and reliable motor function scale for Pompe disease

C.I. van Capelle, J.M. de Vries, N.A.M. van der Beek, R.P.M. Gadiot, P.A. van Doorn, A.T. van der Ploeg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

155

G.P.8.07 Rate of disease progression and response to enzyme replacement therapy in children and adults with Pompe disease

N.A.M. Van der Beek, J.M. De Vries, C.I. Van Capelle, A.J.J. Reuser, P.A. van Doorn, A.T. van der Ploeg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

156

G.P.8.08 Early results in a cohort of late-onset Pompe patients treated with enzyme replacement

D. de Castro, K. Laloui, V. Doppler, C.A.M. Payan, A. Thomé, P. Laforêt

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

157

G.P.8.09 Late onset Pompe disease: Clinical and genetic characterization in five Korean patients

Y.E. Park, J.H. Choi, H.S. Kim, D.S. Kim, C.M. Kim, C.H. Lee

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

158

G.P.8.10 Severe sleep apnea associated with adult onset Pompe disease: Improvement with alglucosidase alfa

E. Kiyan, R. Engin-Unver, F. Deymeer, Y. Parman, P. Serdaroglu-Oflazer

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

159

G.P.8.11 Rigid spine syndrome revealing late-onset Pompe disease

P. Laforêt, V. Doppler, C. Caillaud, K. Claeys, P. Richard, K. Laloui, A. Ferreiro, B. Eymard

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

160

G.P.9.01 Albuterol promotes sustained improvement in motor function in spinal muscular atrophy type III

R.S. Finkel, M.F. Benton, A.M. Glanzman

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

161

G.P.9.02 In vitro evaluation of HDAC inhibitors for the treatment of spinal muscular atrophy

A. Muchir, H. Deppe, B. Hoffmann, M. Soeberdt, N. Güven

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

162

G.P.9.03 Quality of life and motor ability in SMA

A.P.Q. Araujo, C.M. Oliveira

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

163

G.P.9.04 Dysphagia in spinal muscular atrophy type II, more than a bulbar problem?

L. van den Engel-Hoek, C.E. Erasmus, H.W. van Bruggen, B.J.M. de Swart, L.T. Sie, M.H. Steenks, I.J.M. de Groot

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

164

G.P.9.05 Prenatal delay of muscle maturation in spinal muscular atrophy

R. Martínez-Hernández, S. Bernal, L. Alias, E. Also, C. Soler-Botija, E.F. Tizzano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

165

G.P.9.06 Infantile inflammatory myopathy presenting as SMARD 1

V. Crugnola, I. Colombo, G. Rossetti, N. Grimoldi, P. Ciscato, A. Prelle, G.P. Comi, N. Bresolin, M. Moggio, C. Lamperti

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

166

G.P.9.07 DNAJB2 gene expression in normal and diseased human and mouse skeletal muscle

K.G. Claeys, M. Sozanska, J.J. Martin, E. Lacene, L. Vignaud, A. Kichler, D. Scherman, T. Voit, D. Israeli

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

167

G.P.9.08 Insights into the pathological basis of autosomal dominant distal spinal muscular atrophy from a large Australian family

E.C. Oates, N.F. Clarke, S.W. Reddel, K.N. North

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

168

G.P.9.09 A new type of autosomal dominant adult onset spinal motor neuronopathy

M. Jokela, B. Udd, S. Penttilä, A.M. Saukkonen, J. Toivanen, T. Suominen

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

169

G.P.9.10 Standardized platform for testing therapeutics in a neonatal mouse model of spinal muscular atrophy

B. El-Khodor, S. Ramboz, A. Chen, H. Bowling, K. Chen, M. Winberg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

170

EM.I.1 Laminin functions along the neuromuscular axis

P.D. Yurchenco, K.M. McKee, S. Capizzi, D.H. Yang

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

171

EM.I.2 Toward a mitochondrial therapy of collagen VI muscular dystrophies

P. Bernardi, P. Bonaldo, P. Sabatelli, N.M. Maraldi, L. Merlini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

172

EM.I.3 Muscle and its extracellular matrix: Genetic disorders of the “Myomatrix”

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

173

EM.O.1 E3 domain of laminin α1 chain that binds to dystroglycan is not essential for survival and muscle regeneration in laminin α1 chain mediated correction of laminin α2 chain deficiency

K.I. Gawlik, V. Carmignac, M. Åkerlund, H. Elamaa, M. Durbeej

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

174

EM.O.2 Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy

M. Taniguchi, M. Kanagawa, S. Takeda, S. Yuko Miyagoe-Suzuki, S. Takeda, T. Endo, K. Kobayashi, K.P. Campbell, T. Toda

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

175

G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3

J. Senderek, S.M. Garvey, M. Krieger, I. Tournev, M. Elbracht, A. Roos, C. Stendel, A. Urtizberea, V. Guergueltcheva, V. Mihailova, H. Feit, J. Tramonte, P. Hedera, C. Bergmann, S. Rudnik-Schöneborn,

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

176

G.O.6 New variant of myofibrillar myopathy with CNS involvement

S. Shalaby, Y.K. Hayashi, H. Mitsuhashi, K. Goto, I. Nonaka, S. Noguchi, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

177

G.O.7 A homozygous desmin deletion causes an Emery-Dreifuss like recessive myopathy with desmin depletion

V. Carmignac, S. Sharma, S. Arbogast, D. Fischer, C. Serreri, M. Serria, G. Stoltenburg, C.A. Maurage, H. Herrmann, J.M. Cuisset, H. Bär, A. Ferreiro

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

178

G.O.8 Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathy

S.A. Robb, C.A. Sewry, A.Y. Manzur, R.K. Knight, K.R. Mills, M. Pike, C. Muller, M.M. Lees, T. Cullup, H. Jungbluth, M.C. Pitt, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

179

M.P.3.01 Gait steadiness and upper-body kinematics in DMD children

R. Ganea, N. Goemans, M. van den Hauwe, K. Aminian, A. Paraschiv-Ionescu, P.Y. Jeannet

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

180

M.P.3.02 Detailed analysis of daily-life physical activity patterns in DMD children

P.Y. Jeannet, R. Ganea, C. Piot, N. Goemans, M. van den Hauwe, K. Aminian, A. Paraschiv-Ionescu

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

181

M.P.3.03 6-minute walk test in Duchenne muscular dystrophy: Longitudinalobservations

C. McDonald, E. Henricson, R.T. Abresch, A. Nicorici, L. Atkinson, A. Reha, G.L. Elfring, L.L. Miller

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

182

M.P.3.04 Assessment of StepWatch™ activity monitoring in phase 2b study of ataluren (PTC124™) in nmDMD/BMD

C. McDonald, K. Coleman, E. Henricson, R.T. Abresch, M. Eagle, J. Florence, E. Gappmaier, A.M. Glanzman, A. Reha, G.L. Elfring, L.L. Miller, L. Atkinson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

183

M.P.3.05 Use of a novel system for grading timed function test performance in phase 2b study of ataluren (PTC124™) in nonsense mutation Duchenne and Becker muscular dystrophy (nmDMD/BMD)

M. Elfring, R.T. Abresch, J. Florence, E. Gappmaier, A.M. Glanzman, E. Henricson, A. Reha, G.L. Elfring, L.L. Miller, L. Atkinson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

184

M.P.3.06 Quantification of upper limb activity in non ambulant boys with Duchenne muscular dystrophy using accelerometry: A proof-of-concept study

L. Servais, A. Canal, J.Y. Hogrel, T. Voit

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

185

M.P.3.07 Isometric dynamometry with a Biodex system for the follow-up of patients suffering from LGMD2A (calpainopathy)

J.Y. Hogrel, G. Ollivier, A. Canal

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

186

M.P.3.08 How can measurement of muscle torque in children by hand-held dynamometry enhance clinical decision making

J. Saulnier, L.J. Hébert, C. Lepage, D.B. Maltais

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

187

M.P.3.09 Relation between total power estimated from 3D accelerometric data and distance covered during the six-minute walk test

I. Ledoux, V. Decostre, A. Canal, J.Y. Hogrel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

188

M.P.4.01 The value of immunolabelling of myosin heavy chains in the assessment of muscle biopsies

L.H. Feng, N. Bhardwaj, F. Muntoni, C.A. Sewry

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

189

M.P.4.02 Perioral skin biopsy to study skeletal muscle protein expression

L. Santoro, C. Fiorillo, M. Nolano, V. Provitera, S. Faraso, C. Vitiello, S. Aurino, V. Nigro

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

190

M.P.4.03 Analysis of dynamic muscle properties of FES-activated denervated m. quadriceps

M. Krenn, D. Rafolt, E. Gallasch, H. Kern, W. Mayr

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

191

M.P.4.04 Force-generating capacity of human myosin isoforms: Results from a modified single muscle fiber in vitro motility assay

M. Li, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

192

M.P.4.05 Electrical impedance myography for non-invasive quantification of spinal muscular atrophy

B.T. Darras, C. Lin, P. Fogerson, H. Butler, J. Caracciolo, S.B. Rutkove

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

193

M.P.4.06 Effects of ageing and gender on the spatial organization of nuclei in single human skeletal muscle cells

A. Cristea, P. Karlsson Edlund, J. Lindblad, R. Qaisar, E. Bengtsson, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

194

M.P.4.07 Reverse protein arrays for efficient protein diagnosis of muscular dystrophies in less than 10 mg muscle tissue

C.A. Escher, H. Lochmüller, M.C. Walter, M. Ehrat, J. Reimann, M.A. Ruegg, D. Gygax

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

195

EM.P.4.01 Collagen VI related myopathies: Exploring the phenotypic spectrum

A.R. Foley, A. Columbus, J. Schlessl, Y. Hu, Y. Zou, S. Iannaccone, K. Mathews, A. Connolly, B. Wong, P. Kaufmann, M. Scavina, K. Flanigan, R. Weiss, R. Finkel, C.G. Bonnemann

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

196

EM.P.4.02 Comprehensive clinical, cellular and molecular assessment of 64 French families with COL6-related muscle disorders: Clues for genotype/phenotype correlations

P. Richard, L. Briñas, S. Quijano-Roy, C. Ledeuil, A. Ferreiro, C. Gartioux, I. Pénisson-Besnier, A. Béhin, P. Laforet, M. Mayer, L. Viollet, P. Guicheney, B. Eymard, B. Estournet, T. Stojkovic, V. Al

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

197

EM.P.4.03 Extensive sequencing of COL6A genes in a cohort of 65 patients with collagen type VI related myopathies. Focus on splicing mutations causing Ullrich congenital muscular dystrophy

E. Martoni, A. Urciuolo, C. Trabanelli, M. Fabris, P. Sabatelli, E. Bertini, E. Mercuri, N.M. Maraldi, P. Bernardi, P. Bonaldo, L. Merlini, A. Ferlini, F. Gualandi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

198

EM.P.4.04 Unusual Col6A mutations in two Ullrich CMD patients

R.J. Butterfield, G. Ascadi, K.J. Swoboda, K.M. Flanigan, R.B. Weiss

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 49 KB

english, 2009

199

EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity

J. Collins, D. Hicks, A. Sarcozy, A. Lampe, F. Norwood, V. Straub, H. Lochmüller, K. Bushby

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

200

EM.P.4.06 Autosomal recessive inheritance of classic Bethlem myopathy

A.R. Foley, J. Shoffner, R. Weiss, C.G. Bonnemann

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

201

EM.P.4.07 Autosomal recessive Bethlem myopathy

F. Gualandi, A. Urciuolo, E. Martoni, P. Sabatelli, S. Squarzoni, M. Bovolenta, S. Messina, E. Mercuri, A. Franchella, A. Ferlini, P. Bonaldo, L. Merlini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

202

EM.P.4.08 Chain-specific antibody testing of collagen VI: An additional pre-screening strategy for the diagnosis of Bethlem myopathy

R. Charlton, M. Henderson, J. Richards, D. Hicks, M. Reza, V. Straub, H. Lochmüller, K. Bushby, R. Barresi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

203

EM.P.4.09 Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two myosclerosis myopathy patients

P. Sabatelli, P. Grumati, E. Martoni, A. Zamparelli, S. Squarzoni, A. Urciuolo, F. Gualandi, A. Ferlini, L. Merlini, W.B. Stallcup, P. Bonaldo

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

204

T.P.3.01 Glucocorticoids influence therapeutic efficacy of idebenone (Catena®) on peak expiratory flow in patients with Duchenne muscular dystrophy (DMD)

G.M. Buyse, N. Goemans, M. van den Hauwe, I.J.M. de Groot, U. Schara, B. Ceulemans, T. Meier

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

205

T.P.3.02 Use of glucocorticoids in Duchenne MD: Consensus report of the CDC Duchenne care considerations neurology panel

R. Finkel, D. Biggar, C. Bonnemann, C. Constantin, D. Escolar, E. Massey, T. Miller, J. Pascual, J. Sladky, K. Wagner, B. Wong, K. Bushby

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

206

T.P.3.03 Long-term, low-dosage, early steroid therapy in Duchenne muscular dystrophy prolongs ambulation and preserves respiratory and cardiac function. 13 years follow-up

L. Merlini, E. Malaspina, A. Cicognani, E. Franzoni, A.R. Armaroli, B. Talim, F. Gualandi, M.E. Michelini, A. Ferlini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

207

T.P.3.04 Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study

S. Gandossini, M.G. d’Angelo, S. Bonato, G.P. Comi, F. Magri, M. Moggio, M. Sciacco, A.C. Turconi, C. Sciorati, N. Bresolin, E. Clementi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

208

T.P.3.05 Reproducibility and correlation of pretreatment outcome measures in phase 2b study of ataluren (PTC124™) in nonsense mutation Duchenne and Becker muscular dystrophy (nmDMD/BMD)

J. Florence, R.T. Abresch, M. Eagle, E. Gappmaier, A.M. Glanzman, E. Henricson, A. Reha, G.L. Elfring, L.L. Miller, L. Atkinson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

209

T.P.3.06 Metformin improves weight gain and body mass index in Duchenne muscular dystrophy

M.M. Rutter, B.L. Wong, S.R. Rose, D.J. Klein

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

210

T.P.3.07 Design of an international phase III study with idebenone (Catena®) in patients with Duchenne muscular dystrophy (DMD) – The DELOS study

G.M. Buyse, T. Meier, R.S. Finkel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

211

T.P.3.08 Clinical trial of epigallocatechin-3-gallate in Duchenne muscular dystrophy

A. von Moers, F. Paul, M. Schülke, S. Ohlraum, Y. Nakae, O.M. Dorchies, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

212

T.P.4.01 Effects of idebenone on mitochondrial function in cells from muscular dystrophy patients and healthy individuals

R. Haefeli, A. Gemperli, N. Güven

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

213

T.P.4.02 Effects of rituximab treatment in two patients affected by dysferlin-deficient muscular dystrophy

A. Lerario, F. Cogiamanian, C. Marchesi, S. Bonfiglio, M. Belicchi, L. Porretti, N. Bresolin, Y. Torrente

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

214

T.P.4.03 Treatment with Bortezomib (PS-341) of Golden Retriever Muscular Dystrophy (GRMD): Analysis of proteasome inhibition and morphology of dystrophic skeletal muscle

K.P.C. Araújo, D.F. Moreira, T.P. Gaiad, M.A. Miglino, S.L. Gorniak, D. Feder, J.E. Belizário, C.E. Ambrósio

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

215

T.P.4.04 Automated drug screening with contractile muscle tissue engineered from dystrophic myoblasts

H. Vandenburgh, J. Shansky, F. Benesch-Lee, K. Skelly, J. Spinazzola, Y. Saponjian, B.S. Tseng

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

216

T.P.4.05 Jaw exercise in patients with Duchenne muscular dystrophy (multicenter study) – Therapeutic intervention to the masseter muscle

S. Nozaki, M. Kawai, R. Shimoyama, N. Futamura, T. Matsumura, Y. Kikuchi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

217

T.P.4.06 Does physiotherapy change the fibrosis amount on canine dystrophic muscle and dynamical features of gait?

T.P. Gaiad, T.M. Guimarães, K.P.C. Araujo, F.A. Caromano, J.C. Serrão, M.A. Miglino, C.E. Ambrosio

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

218

T.P.4.07 The opening of pulmonary respiration resulted in muscle degeneration of diaphragm in canine X-linked muscular dystrophy

A.N. Nakamura, M.K. Kobayashi, K.Y. Yuasa, N.Y. Yugeta, S.T. Takeda

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

219

T.P.4.08 Oxidative stress as a therapeutic target: Efficacy of antioxidants in the ex vivo treatment of SEPN1-related myopathy

S. Arbogast, A. Ferreiro

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

220

T.P.4.09 Measuring restored dystrophin in treated muscle: An immunohistological intensity measurement method

V. Arechavala-Gomeza, L. Feng, A. Malerba, I.R. Graham, S.C. Brown, C. Sewry, J. Morgan, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

221

T.P.4.10 Towards a better understanding of truncated dystrophin instability

V. Robin, C. Beley, M. Reboud, T. Voit, L. Garcia

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

222

T.P.5.01 Melatonin improves muscle function in the mdx mouse

Y. Hibaoui, O.M. Dorchies, J. Reutenauer, O. Patthey-Vuadens, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

223

T.P.5.02 Melatonin prevents oxidative-stress mediated mitochondrial permeability transition and death in mouse skeletal muscle cells

Y. Hibaoui, E. Roulet, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

224

T.P.5.03 Restoring mitochondrial function in Duchenne muscular dystrophy by idebenone

A. Gemperli, M. Hufschmid, I. Courdier-Fruh, R. Haefeli, M. Erb, R. Dallmann, N. Güven

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

225

T.P.5.04 Effect of a mild exercise regime on disease parameters in the mdx mouse model

M. van Putten, C.L. de Winter, W.M.C. van Roon-Mom, G.J.B. van Ommen, P.A.C. ’tHoen, A.M. Aartsma-Rus

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

226

T.P.5.05 Muscle-specific expression of myotubularin ameliorates the phenotype of targeted muscles in mouse models of X-linked myotubular myopathy

T. Jamet, F. Fougerousse, N. Guerchet, A. Douar, J.L. Mandel, M. Montus, A. Buj-Bello

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

227

T.P.5.06 Pharmacological characterization of phospholipase A2 activities in primary cultures of mouse dystrophic muscle

O.M. Dorchies, A.K. Johansson, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

228

T.P.5.07 Substantial improvement of laminin α2 chain deficiency by laminin α1 chain overexpression persists throughout life

K.I. Gawlik, M. Durbeej

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

229

T.P.5.08 Contribution of reactive oxygen species generated through NADPH oxidase to abnormal Ca2+ signals in dystrophic skeletal muscle cells

Y. Hibaoui, K. Bedard, K.H. Krause, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

230

T.P.5.09 Reduced mitochondrial copy number in mdx diaphragm – An adaptive response to reduce oxidative stress?

M. Erb, L. Sumanovski, I. Courdier-Fruh, N. Güven

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

231

T.P.5.10 Introduction of wound-healing MRL-MpJ phenotype improves skeletal muscle pathology in mdx mouse

Y. Ohsawa, M. Fujino, T. Okada, A. Kuga, S. Hayashi, M. Rikimaru, Y. Sunada

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

232

T.P.5.11 Lamp1 overexpression may rescue cardiomyopathy in Lamp2 deficient mice

S. Honda, S. Noguchi, M.C.V. Malicdan, Y.K. Hayashi, P. Saftig, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

233

T.P.5.12 Regeneration is up-regulated in Glatiramer acetate treated dy2J/dy2J mice with congenital muscular dystrophy

O. Dadush, S. Aga-Mizrachi, K. Ettinger, R. Tabakman, M. Elbaz, J. Fellig, V. Barak, Y. Nevo

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

234

T.P.5.13 Oxidative stress in mdx muscle: Source and consequences

I. Courdier-Fruh, R. Dallmann, N. Güven

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

235

G.P.10.01 DMD and SGCG molecular analysis in 200 Algerian patients affected with progressive muscular dystrophies

T. Benhassine, T. Hamadouche, K. Icheboudene, R. Drali, S. Nouioua, S. Makri, M. Chaouch, M. Tazir

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

236

G.P.10.02 Does δ-sarcoglycan-associated autosomal dominant cardiomyopathy exist?

A. Sarkozy, R. Bauer, J. Hudson, H.D. Müller, C. Sommer, G. Dekomien, J. Bourke, D. Routledge, K. Bushby, J. Klepper, V. Straub

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

237

G.P.10.03 Refinement of the LGMD1 locus on 7q36 by genotyping new Finnish families

P. Hackman, S. Sandell, J. Sarparanta, H. Luque, S. Huovinen, O. Raheem, P.H. Jonson, I. Mahjneh, B. Udd

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

238

G.P.10.04 PLEC1-related epidermolysis bullosa simplex-muscular dystrophy (EBS-MD) with early onset and associated myasthenic symptoms

K. Forrest, J. Melerio, S. Robb, S. Goyal, H. Jungbluth, E. Wraige

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

239

G.P.10.05 Pathogenic caveolin-3 mutations: Influence on canonical signalling pathways in vitro and effects in a rat muscle in vivo model of caveolinopathy

E. Brauers, P. Martinez, M. De Baets, A. Krüttgen, J. Weis

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

240

G.P.10.06 Caveolinopathy presenting as neonatal hypotonia

M. Olivé, L. Gonzalez-Quereda, P. Gallano, M. Roig, F. Munell, A. Sanchez, A. Macaya, I. Ferrer

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

241

G.P.10.07 Differential expression of microRNAs in calpainopathies

A.M. Aguennouz, M.O. Musumesci, R.C. Rodolico, L.N. Lanzano, G.A. Garufi, D.P.M. De Pasquale, V.G. Vita, T.A. Toscano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

242

G.P.10.08 Myophosphorylase deficiency and calpainopathy in the same patient

N. Pulur, Y. Parman, F. Deymeer, P. Serdaroglu-Oflazer

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

243

G.P.10.09 Description of a family associating a calpainopathy and a Duchenne myopathy

S. Nouioua, A.M. Cobo, T. Benhassine, A. Urtizberea, S. Slimani, N. Terki, S. Assami, M. Tazir

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

244

G.P.11.01 RNA processing differences explain tissue specificity in exercise intolerance myopathy due to ISCU intronic mutation

P.S. Sanaker, M. Toompuu, Z. Chrzanowska-Lightowlers, L. He, V. Hogan, R.W. Taylor, C. Tzoulis, L.A. Bindoff

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

245

G.P.11.02 Early-onset neutral lipid storage disease with myopathy due to PNPLA2 mutations

D. Cassandrini, F. Trucco, S. Scapolan, G.M. Magnano, S. Pessano, F. Scuderi, A. Rossi, M. Pedemonte, C. Minetti, C. Bruno

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

246

G.P.11.03 Reduced oxygen availability in muscle of exercising glycogenosis type III patients shown by multi-parametric functional NMR

C. Wary, A. Nadaj-Pakleza, P. Laforêt, A. Monnet, S. Fleury, R. Carlier, C. Baligand, B. Eymard, P. Labrune, P.G. Carlier

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

247

G.P.11.04 Pattern and evolution of skeletal muscle involvement in glycogenosis type III (debrancher deficiency): Muscle imaging findings from childhood to adult age

A.A. Nadaj-Pakleza, J. Renoux, P. Carlier, A. Mollet, P. Labrune, A. Behin, B. Eymard, P. Laforet

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

248

G.P.11.05 A life threatening case of α-enolase deficiency

O. Musumeci, C. Rodolico, A. Ciranni, M. Aguennouz, N. Lanzano, A. Toscano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

249

G.P.11.06 Clinical correlations of binding and blocking acetylcholine receptor antibodies in myasthenia gravis

S.Y. Kang, J.H. Kang, J.C. Choi, J.S. Lee

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

250

G.P.11.07 Elevated serum level of interleukin-32 in the patients with myasthenia gravis

S.S.H. So, N.S.J. Na, C.Y.C. Choi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

251

G.P.11.08 Long term remissions in MuSK-positive myasthenia gravis after a single course of Rituximab

J. Michaels, T. Ranjan, J.R. Harrison

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

252

G.P.11.09 Congenital endplate acetylcholinesterase deficiency and the effect of ephedrine on clinical findings, lung functions and nocturnal parameters

E. Kiyan, B. Kara, P. Serdaroglu Oflazer, Y. Parman, N. Tasdemir, F. Deymeer, A.G. Engel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

253

G.P.11.10 Partial genomic deletions of RAPSN account for 15% of congenital myasthenic syndrome after negative DNA sequencing

P. Richard, K. Gaudon, I. Pénisson-Besnier, B. Chabrol, F. Bouhour, C. Vial, A. Ben Ammar, S. Bauché, B. Eymard, D. Hantai

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

254

G.P.11.11 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

M. Milone, X.M. Shen, D. Selcen, K. Ohno, J. Brengman, S.T. Iannaccone, C.M. Harper, A.G. Engel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

255

M.P.5.01 Magnetic resonance imaging of cardiac function in mouse models for muscular dystrophy associated cardiomyopathy

E. Greally, B.J. Davison, R. Patel, A. Blain, S. Laval, H. Lochmüller, K. Bushby, A. Blamire, G. MacGowan, V. Straub

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

256

M.P.5.02 Evaluating muscle function in mice lacking myostatin by functional nuclear magnetic resonance in vivo: Preliminary results

C. Baligand, H. Gilson, J.C. Ménard, O. Schakman, C. Wary, J.P. Thissen, P.G. Carlier

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

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english, 2009

257

M.P.5.03 Specificity and sensitivity of patterns of muscle MRI involvement in muscular dystrophies with rigidity of the spine

E. Mercuri, E. Clement, A. Offiah, A. Pichiecchio, J. Alsopp, G. Vasco, F. Bianco, A. Manzur, S. Messina, E. Ricci, M. Rutherford, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

258

M.P.5.04 Evaluation of in-phase and out-of-phase and FISP MRI to quantify muscle fat content in OPMD

D. Fischer, K. Scheffler, K. Heinimann, M. Tolnay, R. Rodoni, A. Fischmann, M. Gloor

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

259

M.P.5.05 Whole-body muscle MRI in collagen type VI-related myopathies (Ullrich CMD and Bethlem myopathy)

S. Quijano-Roy, D. Avila-Smirnow, M. Zayani, S. Chaabane, M. Hamida, B. Estournet, L. Viollet, D. Fischer, P. Cuvelier, A. Ferreiro, N. Dehlinger, N.B. Romero, L. Briñas, C. Gartioux, P. Guicheney, P.

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

260

M.P.5.06 Steroids and T2 relaxation time mapping of the gluteal muscles in patients with Duchenne muscular dystrophy (DMD): Longitudinal and quantitative assessment

H. Kim, T. Laor, B. Dardzinski, M. Chadehumbe, B.L. Wong

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

261

M.P.5.07 Serial high-resolution muscle ultrasonography

A. van Baalen, G. Wiegand, U. Stephani

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

262

M.P.5.08 In vivo imaging of muscle fibers under normal and pathological conditions

J. Böhm, M. Koch, Y. Lutz, J.L. Vonesch, D. Hentsch, J.L. Mandel, J. Laporte

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

263

M.P.5.09 Non-invasive assessment of muscle stiffness with magnetic resonance elastography

L. Debernard, J.Y. Hogrel, S.F. Bensamoun

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

264

EM.P.5.01 Gene expression and proteome profiles in Col6a1−/− mice, a model of Ullrich congenital muscular dystrophy (UCMD)

M. Bovolenta, S. De Palma, M. Vasso, N.M. Maraldi, F. Gualandi, L. Merlini, P. Sabatelli, T. Tiepolo, P. Bonaldo, P. Bernardi, C. Gelfi, A. Ferlini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

265

EM.P.5.02 Role of mitochondria in the pathogenesis of muscular dystrophies

E. Palma, A. Angelin, T. Tiepolo, P. Sabatelli, N.M. Maraldi, L. Merlini, P. Bonaldo, P. Bernardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

266

EM.P.5.03 The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1 myopathic mice

A. Angelin, T. Tiepolo, E. Palma, P. Sabatelli, L. Merlini, L. Nicolosi, F. Finetti, P. Braghetta, G. Vuagniaux, J.M. Dumont, C.T. Baldari, P. Bonaldo, P. Bernardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

267

EM.P.5.04 Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice

T. Tiepolo, E. Palma, A. Angelin, P. Sabatelli, N.M. Maraldi, E. Basso, A.M. Forte, P. Bernardi, P. Bonaldo

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

268

EM.P.5.05 Zebrafish models of collagen VI myopathies

M.J. Blankinship, A.S. Busta, E.L. Feldman, J.J. Dowling

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

269

EM.P.5.06 Collagen VI alpha5 chain exhibits a restricted localization at junctions in human skeletal muscle and skin

R. Wagener, S.K. Gara, S. Squarzoni, A. Zamparelli, S. Santi, P. Grumati, A. Urciuolo, O. Donzelli, E. Martoni, F. Gualandi, L. Merlini, P. Bonaldo, P. Sabatelli, M. Paulsson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

270

EM.P.5.07 Abnormal elastin deposits and altered organization of elastic fibers in collagen VI- related disorders

S. Petrini, P. Sabatelli, A. d’Amico, F. Gualandi, P. Braghetta, M. Coccetti, T. Rizza, R. Carrozzo, G. Pepe, P. Bonaldo, A. Ferlini, L. Merlini, E. Bertini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

271

EM.P.5.08 Novel collagen VI alpha chains distribution in murine skeletal muscle: Possible implications for neuromuscular disorders

P. Sabatelli, S.K. Gara, S. Squarzoni, A. Zamparelli, P. Grumati, A. Urciuolo, A. Ferlini, L. Merlini, R. Wagener, M. Paulsson, P. Bonaldo

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

272

T.P.6.01 Possible role of RTX in the differentiation of pericyte-like cells in Duchenne muscular dystrophy

A. Farini, M. Meregalli, M. Belicchi, D. Parolini, G. D’Antona, S. Sangiorgi, G. Cossu, R. Bottinelli, N. Bresolin, Y. Torrente

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

273

T.P.6.02 Aldehyde dehydrogenase activity identifies distinct populations of progenitors within human skeletal muscle

K. Vauchez, J.P. Marolleau, M. Schmid, P. Khattar, A. Chapel, C. Catelain, S. Lecourt, J. Larghéro, M. Fiszman, J.T. Vilquin

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

274

T.P.6.03 Restoring cell-basal lamina interaction to rescue tissue degeneration in congenital muscular dystrophy

E. Porrello, T. Domi, A. Capotondo, D. Triolo, M. Sampaolesi, S. Brunelli, G. Comi, M.A. Ruegg, G. Cossu, A. Biffi, A. Quattrini, S.C. Previtali

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

275

T.P.6.04 Comparison of skeletal muscle potential of mesenchymal stem-cells from different sources injected in SJL mice

E. Zucconi, N.M. Vieira, C.R. Bueno Junior, V. Brandalise, M. Secco, M.F. Suzuki, P. Bartolini, P.C. Brum, M. Vainzof, M. Zatz

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

276

T.P.6.05 Poor maintenance of eGFP-mesenchymal stem cells in the dystrophic muscle

D. Ayub-Guerrieri, P.C.G. Onofre-Oliveira, V.F. Lopes, P.C.M. Martins, M. Vainzof

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

277

T.P.6.06 Real-time monitoring of cell transplantation in mouse dystrophic muscles by a secreted alkaline phosphatase reporter gene

X. Gerard, L. Vignaud, S. Charles, C. Pinset, D. Scherman, A. Kichler, D. Israeli

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

278

T.P.6.07 Lin() bone marrow stem cells transplantation repairs structure of mdx mice neuromuscular junctions

A.V. Sokolova, V.V. Zenin, V.M. Mikhailov

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

279

T.P.6.08 Effect of MAPK inhibition on the rhabdomyosarcoma cell line TE671: An in vitro model for the study of human muscle differentiation

E. Schirwis, N. De Luna, I. Illa, E. Gallardo

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

280

T.P.6.09 Will it be possible to do a phase 2 clinical trial of myoblast transplantation for DMD patients?

J.P. Tremblay, D. Skuk

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

281

G.P.12.01 Immunodetection of myotubularin in human tissues: A diagnostic tool for X-linked myotubular myopathy

L. Al-Qusairi, M.T. Bui, C. Kretz, K. Tomczak, D. Furling, A.H. Beggs, J.L. Mandel, N. Romero, J. Laporte, A. Buj Bello

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

282

G.P.12.02 T-tubule disorganisation and defective excitation–contraction coupling in muscle fibres lacking myotubularin lipid phosphatase

L. Al-Qusairi, N. Weiss, C. Berbey, N. Messaddeq, C. Kretz, D. Sanoudou, A.H. Beggs, B. Allard, J.L. Mandel, J. Laporte, V. Jacquemond, A. Buj-Bello

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

283

G.P.12.03 Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene

H. Jungbluth, T. Cullup, S. Lillis, H. Zhou, C. Sewry, S. Abbs, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

284

G.P.12.04 A missense variant in the MTM1 gene associated with X-linked myotubular myopathy in Labrador retrievers

G.D. Shelton, J. Bohm, E. Snead, M. Kozlowski, K. Minor, L. Tiret, M.K. Childers, S.M. Taylor, J.R. Mickelson, L.T. Guo, A.P. Mizisin, J. Laporte, A.H. Beggs

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

285

G.P.12.05 Myotubularins and the pathogenesis of centronuclear myopathies

J.J. Dowling, A. Busta, A.V. Vreede, J.Y. Kuwada, M. Wishart, E.L. Feldman

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

286

G.P.12.06 Progressive muscle biopsies morphological changes in MTM1-related centronuclear congenital myopathy

F. Lubieniecki, V. Biancalana, N. Romero, S. Monges, M. Saccoliti, A.L. Taratuto

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

287

G.P.12.07 A new ACTA1 mutation in two unrelated sporadic cases of neonatal form of CFTD

N. Deconinck, N. Monnier, M.C. Commare, P. Mezin, A. Michotte, J. Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

288

G.P.12.08 Zebra body myopathy resolved

C.A. Sewry, J. Holton, D.J. Dick, T. Jacques, F. Muntoni, M. Hanna

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

289

G.P.12.09 Actin myopathy with myofibrillar dysgenesis and abnormal ossification

A. Arai, I. Nonaka, Y. Saito, F. Komaki, H. Sakuma, K. Sugai, M. Sasaki, S.P. Robertson, G. Nishimura, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

290

G.P.12.10 Repeat muscle biopsy in the diagnosis of cap myopathy with ACTA1 gene mutation

R.M. Hung, C.E. Hawkins, G. Yoon, D. Biggar, J. Vajsar

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

291

G.P.12.11 In vivo manipulation of skeletal muscle to characterize the mechanisms underlying centronuclear myopathies

B. Cowling, L. Amoasii, V. Tosch, P. Koebel, J.L. Mandel, J.F. Laporte

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

292

G.P.13.01 DYC-1 and ZYX-1, new actors of muscle degeneration in Caenorhabditis elegans

C. Lecroisey, M.C. Mariol, Y. Schwab, M. Labouesse, L. Ségalat, K. Gieseler

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

293

G.P.13.02 Non-coding RNAs within the DMD gene

M. Bovolenta, M. Neri, S. Brioschi, M. Fabris, C. Scotton, M.S. Falzarano, P. Rimessi, G. Perini, F. Gualandi, A. Ferlini

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

294

G.P.13.03 Can VLA-4 be applied as a biomarker for prognosis and therapeutic target in Duchenne muscular dystrophy?

F. Pinto-Mariz, L.R. Carvalho, W. de Mello, A. Prufer, M.G. Ribeiro, M.C.S. Alves-Cunha, I. Riederer, E. Negroni, T. Voit, I. Desguerre, G. Butler-Browne, W. Savino, S.D. Silva-Barbosa

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

295

G.P.13.04 In-frame deletion of the entire dystrophin rod domain prevents compensation by utrophin and causes an unusually severe muscular dystrophy

J. Schessl, M.L. Yang, P.T. Heydemann, R.L. Sufit, L. Medne, A. Attia, R.S. Finkel, C.G. Bönnemann

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

296

G.P.13.05 The diagnosis and management of Duchenne muscular dystrophy: Internationally generated care recommendations

K. Bushby, D. Birnkrant, L. Case, P. Clemens, L. Cripe, R. Finkel, A. Kaul, K. Kinnett, C. McDonald, S. Pandya, J. Poysky, F. Shapiro, J. Tomezsko, C. Constantin

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 49 KB

english, 2009

297

G.P.13.06 Clinical phenotype of Becker muscular dystrophy patients with deletions of exons 45–51 and 50–51

C.S.M. Straathof, A.T.J. Helderman-van den Enden, A. Aartsma-Rus, J.T. den Dunnen, B.M. Verbist, E. Bakker, J.J.G. Verschuuren, H.B. Ginjaar

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

298

G.P.13.07 Paediatric females with dystrophinopathy

L.C. McAdam, N. Seemann, K. Shelby, H. Kolski, C. Campbell, D. Biggar

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

299

G.P.13.08 Dystrophin gene analysis for identification of DMD/BMD carrier status in Egyptian symptomatic and asymptomatic females

R.M. El Sherif, I. Nonaka, N. Minami

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

300

G.P.13.09 Muscle biopsy mRNA-based analysis of point mutations in DMD gene in Spanish patients

J. Juan-Mateu, M.J. Rodrı´guez, L. González-Quereda, J. Colomer, A. Nascimento, A. Cabello, E. Rivas, M. Madruga, C. Paradas, M. Olivé, P. Gallano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

301

G.P.13.10 Early cardiomyopathy in DMD

G.L. Vita, R. Kirk, H. Lochmüller, K. Bushby, V. Straub

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

302

G.P.13.11 Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy

A. Sarkozy, T. Cheetham, S. Pearce, D. Rawlings, M. Eagle, G.L. Vita, M. Guglieri, V. Straub, K. Bushby

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

303

G.P.13.12 Parents vision on Duchenne muscular dystrophy (DMD) research

D. Feder, B.S. Segtnan

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

304

G.P.14.01 Holter monitoring versus Electrocardiogram (ECG) for the detection of cardiac arrhythmia in myotonic dystrophy type 1 (DM1)

J. Whitesell, J. Sampson, K. Whitehead

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

305

G.P.14.02 A high prevalence of Brugada syndrome among patients with Steinert’s disease: A new insight into the pathophysiology of Steinert’s disease’s cardiac complications

K. Wahbi, V. Fressart, H.M. Bécane, C. Meune, P. Richard, A. Lazarus, P. Laforêt, N. Benammar, H. Radvanyi-Hoffman, B. Eymard, D. Duboc

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

306

G.P.14.03 Corneal thickness and endothelial cell characteristics in patients with myotonic dystrophy

N. Rosa, M. Lanza, M. Borrelli, M.L. Filosa, M. De Bernardo, M.R. Cecio, M.G. Di Gregorio, A. Palladino, L. Politano

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

307

G.P.14.04 Congenital myotonic dystrophy in patients diagnosed as congenital fiber type disproporion

K. Tominaga, Y.K. Hayashi, K. Goto, N. Minami, S. Noguchi, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

308

G.P.14.05 Quantitative isometric muscle strength at the ankle in myotonic dystrophy type 1 Patients: A discriminative biological marker

L.J. Hébert, J.F. Remec, J. Saulnier, C. Vial, J. Puymirat

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

309

G.P.14.06 Sleep disturbances in myotonic dystrophy type 2: A comparison with myotonic dystrophy type 1 and healthy controls

A.A. Tieleman, H. Knoop, A. van de Logt, G. Bleijenberg, B.G.M. van Engelen, S. Overeem

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

310

G.P.14.07 In situ hybridization analysis of mRNA in differentiated tissues of adult patients with myotonic dystrophy 1 and 2

Z. Lukáš, I. Falková, M. Falk, J. Zaorálková, R. Hrabálková

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

311

G.P.14.08 Analysis of the CLCN1 gene in Czech patients with myotonia congenita

J. Sedlackova, S. Vohanka, M. Hermanova, P. Vondracek, L. Fajkusova

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

312

G.P.14.09 Successful flecainide therapy in paramyotonia congenita

D. Diodato, O. Farina, G. Ciccone, M. Mayer, S. Sampaolo, G. Di Iorio

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

313

G.P.14.10 Clinical experience with acetazolamide treatment in children; good response in both sodium and chloride channelopathies

L.T.L. Sie, B. Stunnenberg, J. Trip, I.B. Ginjaar, G. Drost

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

314

G.P.14.11 Newly synthesized mexiletine and tocainide analogues are potent use-dependent blockers of skeletal muscle sodium channels: Potential implication for the antimyotonic activity

M. De Bellis, A. De Luca, G. Lentini, A. Carocci, F. Corbo, C. Franchini, D. Conte Camerino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

315

G.P.14.12 Neuromyotonia in childhood: Report of a case

S. Makri, S. Maghnouche, B. Ghiar, M. Ait Kaci-Ahmed

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

316

G.P.15.01 Inflammatory myopathy in early childhood is frequently associated with LMNA mutations

H. Komaki, Y.K. Hayashi, M. Kato, H. Sakuma, Y. Saito, E. Nakagawa, K. Sugai, M. Sasaki, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

317

G.P.15.02 Autophagic degradation of nuclear component in nuclear envelopathy

Y.E. Park, Y.K. Hayashi, G. Bonne, T. Arimura, S. Noguchi, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

318

G.P.15.03 A new antibody specifically recognizes muscles from laminopathy patients

H. Mitsuhashi, Y.K. Hayashi, S. Noguchi, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

319

G.P.15.04 Collagen VI deficiency in skin fibroblasts from progeroid laminopathies

G. Lattanzi, A. Zamparelli, M. Stefanini, D. Orioli, G. Novelli, M. Wehnert, P. Sabatelli, S. Squarzoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

320

G.P.15.05 Characterization of Emd–/–/LmnaH222P/H222P double mutant mice

W.C. Liang, Y.K. Hayashi, Y.E. Park, H. Mitsuhashi, T. Arimura, G. Bonne, S. Noguchi, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

321

G.P.15.06 Inhibition of c-Jun N-terminal kinases signaling to prevent cardiomyopathy caused by mutation in LMNA gene

A. Muchir, W. Wu, J. Shan, G. Bonne, H.J. Worman

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

322

G.P.15.07 Clinical features and genetic analysis of fascioscapulohumeral muscular dystrophy in Korean patients

J.M. Hong, D.S. Shim, B.C. Suh, D.S. Kim, I. Nishino, Y.C. Choi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

323

G.P.15.08 High genetic variability in European population: The FSHD complex puzzle

M. Govi, I. Scionti, E. Signaroldi, S. Bennardo, F. Greco, G. Fabbri, L. Palmucci, M. Moggio, L. Santoro, G. Tomelleri, C. Angelini, C. Rodolico, G. Siciliano, M. Alù, G. Ferri, E. Bonifazi, R.G. Tupl

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

324

G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?

E. Bonifazi, C. Lamperti, C. Fiorillo, L. Vercelli, C. Borsato, R. Frusciante, M. Servida, F. Greco, I. Frambolli, L. Colantoni, G. Ricci, L. Volpi, R. Di Leo, C. Manzoli, P. Cudia, E. Pastorello, L.

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

325

G.P.15.10 Patients with facioscapulohumeral muscular dystrophy-like phenotype not linked to 4q35

L. Leonardis, J. Zidar

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

326

G.P.15.11 Subcellular trafficking of DUX4, a pro-apoptotic protein encoded at the fascioscapulohumeral muscular dystrophy locus FSHD1A

E.D. Corona, A.L. Rosa

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

327

G.P.15.12 Dux4 over-expression in normal mouse: Generation of a mouse model with an FSHD phenotype?

J. Dumonceaux, S. Marie, A. Ferry, F. Coppée, A. Belayew, T. Voit, G. Butler-Browne

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

328

G.P.16.01 Expression of myogenic regulatory factors and myo-regeneration in inflammatory myopathies

J.V. Wanschitz, O. Dubourg, B. Eymard, R. Hoeftberger, M.B. Fischer, E. Lacène, N.B. Romero, S. Herson, G. Butler-Brown, T. Voit, O. Benveniste

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

329

G.P.16.02 Expression of TDP-43 in inflammatory myopathies and other muscle diseases

A. Ishii, H. Takuma, H. Tsuji, N. Ohkoshi, A. Tamaoka

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

330

G.P.16.03 Aggregation of TDP-43 in patients of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

K. Sugie, S. Noguchi, M.C.V. Malicdan, M. Ogawa, I. Nonaka, S. Ueno, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 49 KB

english, 2009

331

G.P.16.04 Cytoplasmic expression of major histocompatibility complex class I in human inflammatory myopathies

V. Papa, R. Salaroli, R. Rinaldi, C. Ceccarelli, L. Badiali De Giorgi, L. Tarantino, G.N. Martinelli, G. Cenacchi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

332

G.P.16.05 Clinical and pathological features of myopathy associated with anti-signal recognition particle antibodies

M. Hashimoto, H. Kowa, A. Iwata, S. Tsuji, J. Shimizu

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

333

G.P.16.06 Anti-SRP antibody myopathies: clinical characteristics and follow-up of 24 patients

C. Bloch-Queyrat, A. Rigolet, O. Dubourg, P. Laforet, P. Grenier, A. Behin, T. Stojkovic, Z. Amoura, B. Eymard, S. Herson, L. Musset, O. Benveniste

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

334

G.P.16.07 Inflammatory myopathies with anti-Ku antibodies: Characteristics and follow up of 28 patients

A. Rigolet, H. Naffati, O. Dubourg, B. Eymard, P. Cacoub, S. Herson, Z. Amoura, L. Musset, O. Benveniste

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

335

G.P.16.08 Expression of HSP90α and HSP90β in the idiopathic inflammatory myopathies and Duchenne muscular dystrophy

J.L. De Bleecker, B. De Paepe, K.K. Creus, J.J. Martin, J. Weis

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

336

G.P.16.09 Epistatic interactions between DRB1 alleles influence susceptibility and clinical phenotype in sporadic inclusion body myositis (sIBM)

F.L. Mastaglia, M. Needham, A. Scott, I. James, T. Day, L. Kiers, A. Corbett, C. Witt, M. Garlepp, R. Allcock, N. Laing, F. Christiansen

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

337

G.P.16.10 Analysis of mtDNA deletions in patients with different forms of idiopathic myositis

P.R. Joshi, P. Tacik, S. Nikolin, J. Weis, M. Deschauer, S. Zierz

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

338

G.P.17.01 Intravenous inotropic treatment of end stage heart failure in neuromuscular disorders

A. van Baalen, G. Fischer, S. von Spiczak, G. Wiegand, U. Stephani

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

339

G.P.17.02 Efficacy and complications of gastrostomy tube feeding in patients with muscular dystrophies

M. Yoshioka, H. Tanaka, H. Konno, T. Takahashi, H. Onodera, K. Ishida

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

340

G.P.17.03 Muscle histopathology in asymptomatic children with incidentally detected high CK

B. Talim, G. Haliloglu, Z. Akcoren, S. Gucer, D. Orhan, G. Kale, H. Topaloglu

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

341

G.P.17.04 Muscle biopsy as a diagnostic tool in neonates

M.A. Al-Muhaizea, H.N. Al-Hindi, H.A. Al-dhalaan, A.K. Chedrawi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

342

G.P.17.05 Creatine kinase (CK) in a normal population: Towards new referent values?

H. Lilleng, S.H. Johnsen, E. Stensland, K. Abeler, S. Løseth, R. Jorde, Y. Figenschau, S. Lindal, S.I. Bekkelund

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

343

G.P.17.06 Axial localized unilateral muscle hypertrophy combined with paraspinal atrophy: An unusual case

F.X.G. Glocker, J.K. Kirschner, G.M. Meng, M.K. Kottlors

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

344

G.P.17.07 Acquired focal rippling muscle syndrome (RMS)

A. Magot, G. Fayet, A. Terrier, P. Chevallier, Y. Pereon

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

345

G.P.17.08 A case report of reversible hydroxychloroquine cardiomyopathy and myopathy

J.B. Sampson, G. Kunkel, S. Chin, K.M. Flanigan

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

346

G.P.17.09 Effects of anemia on gastrocnemius muscle in a model of erythropoietin deficient mice exposed to hypoxia

L. Bex-Hagström, R. El-Hasnaoui-Saadani, F. Favret, J.P. Richalet, M. Beaudry, T. Launay

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

347

G.P.17.10 The educational and vocational status of muscular dystrophy patients

S.H. Im, J.H. Moon, Y.G. Park, S.C. Lee

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

348

T.I.1 Current developments in therapeutics for spinal muscular atrophy

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 49 KB

english, 2009

349

T.I.2 Molecular therapies of Duchenne muscular dystrophy

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

350

T.I.3 Regulating interactions between the immune system and muscle for the treatment of muscular dystrophies

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

351

T.I.4 Potential of muscle stem cells and cell therapy for Duchenne muscular dystrophy

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

352

T.O.1 Sialic acid metabolites preclude the development of myopathic phenotype in the DMRV/hIBM mouse model

M.C. Malicdan, S. Noguchi, Y.K. Hayashi, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

353

T.O.2 Efficient recovery of dysferlin deficiency by dual adeno associated vector mediated gene transfer

W. Lostal, M. Bartoli, N. Bourg, C. Roudaut, A. Bentaib, N. Guerchet, F. Fougerousse, P. McNeil, I. Richard

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

354

T.O.3 Restoration of dystrophin expression in Duchenne muscular dystrophy: A single blind, placebo-controlled dose escalation study using morpholino oligomer AVI-4658

M. Kinali, V. Arechavala-Gomeza, L. Feng, S. Cirak, D. Hunt, C. Adkin, M. Guglieri, S. Abbs, P. Nihoyannopoulos, M.E. Garralda, M. Rutherford, C. McCulley, L. Popplewell, I.R. Graham, G. Dickson, M.J.

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

355

T.O.4 A phase I/IIa study on antisense compound PRO051 in patients with Duchenne muscular dystrophy

N.M. Goemans, G. Buyse, M. Tulinius, J.J.G. Verschuuren, S.J. de Kimpe, J.C.T. van Deutekom

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

356

Poster programme - Uni-Mail

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 95 KB

english, 2009

357

Programme of the 14th World Muscle Society Congress - 2009

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 221 KB

english, 2009

358

14th World Muscle Society Congress – 2009 – Programme (Summary)

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 108 KB

english, 2009

359

Welcome to the World Muscle Society congress in Geneva!

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 110 KB

english, 2009

360

Title

Journal:

Neuromuscular Disorders

Year:

2009

File:

PDF, 127 KB

2009

361

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

362

WMS online application form

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 86 KB

english, 2009

363

WMS News

Journal:

Neuromuscular Disorders

Year:

2009

File:

PDF, 567 KB

2009

364

ENMC

Journal:

Neuromuscular Disorders

Year:

2009

File:

PDF, 124 KB

2009

365

EM.P.4.10 Severe hand contractures and abnormal collagen VI secretion not due to mutations in the COL6 genes: A novel entity?

O. Dubourg, B. Eymard, C. Gartioux, C.G. Bonnemann, C. Job-Deslandre, V. Allamand, P. Richard, A. Ferreiro

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

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