Volume 22; Issue supp-S1

Main
Neuromuscular Disorders
Volume 22; Issue supp-S1

Neuromuscular Disorders

Volume 22; Issue supp-S1

1

O01 Identification of new chemical compounds with upregulate utrophin for the therapy of Duchenne muscular dystrophy

R.J. Fairclough, S.E. Squire, A.C. Potter, D.S. Powell, S.G. Davies, C.J.R. Bataille, G.M. Wynne, A.J. Russell, K.E. Davies

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 87 KB

english, 2012

2

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

3

O02 Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations

C. Liao, N. Ashley, K. Morten, K. Phadwal, A. Williams, I. Fearnley, L. Rosser, J. Lowndes, C. Fratter, D. Ferguson, L. Vay, G. Quaghebeur, L. Macleod, A. Gabriel, S. Downes, K. Simon, M. Votruba, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 87 KB

english, 2012

4

O03 High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement

A.R. Foley, A.A. Broomfield, A. Pandraud, J.O. Johnson, A.B. Singleton, I.P. Hargreaves, J.M. Land, S. Grunewald, S. Rahman, P. Clayton, H. Houlden, M.M. Reilly, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

5

O04 Efficacy of mexiletine in non-dystrophic myotonia: results of an international multi-centred randomised controlled trial

D.L. Raja Rayan, E. Matthews, G. Barreto, S.V. Tan, L. Dewar, J. Burge, Y. Wang, J. Trivedi, E. Ciafaloni, M. Salajegheh, S. Venance, G. Meola, B. Bundy, L. Herbelin, J. Statland, R. Griggs, R. Barohn

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

6

O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure

G. Pfeffer, H. Griffin, H. Elliott, V. Straub, R. Baresi, B. Udd, P.F. Chinnery

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

7

O06 The satellite cell in male and female, developing and adult mice: evidence for functionally distinct stem cell populations

A. Neal, L. Boldrin, J.E. Morgan

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

8

O07 Bmi1 controls satellite cells proliferation and maintenance and plays an important role in muscle regeneration

V. Di Foggia, X. Zhang, S. Marino, L.G. Robson

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

9

P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy

K. Anthony, S. Cirak, S. Torelli, G. Tasca, L. Feng, V. Arechavala-Gomeza, A. Armaroli, M. Guglieri, C. Straathof, J. Verschuuren, A. Artsma-Rus, P. Helderman-van den Enden, K. Bushby, V. Straub, C. S

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

10

P02 Development of in vivo imaging techniques to determine the biodistribution of antisense oligonucleotides in dystrophin deficient muscular dystrophy

U. Burki, A. Blain, I. Wilson, G. Launay, T. Coursindel, R. Maxwell, M. Carroll, S. Laval, M. Gait, V. Straub

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

11

P03 What do MHCn and MHCd antibodies recognise?

L. Feng, R. Phadke, F. Muntoni, C. Sewry

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

12

P04 Advancing the potential of peptide-PMO compounds in exon skipping therapy for DMD

C. Godfrey, G. McClorey, T. Coursindel, C. Betts, S. Hammond, S. El Andaloussi, M. Gait, M. Wood

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

13

P05 Assessment of potential promoters for lentiviral gene therapy in DMD

J. Jonuschies, L. Boldrin, A. Thrasher, F. Muntoni, J. Morgan

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

14

P06 Audit of unexpected weight loss in patients with Duchenne muscular dystrophy

R. Kulshrestha, N. Swiderska, H. Stuart, S. Spinty

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

15

P08 Restoring the reading frame in large DMD duplication mutations results in dystrophin expression in vivo

S. Muses, H. Jones, D.J. Wells

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

16

P09 Novel 5′-utrophin isoforms exhibit species-specific transcriptional profiles and provide additional candidates for therapeutic up-regulation in DMD

K.J. Perkins, N.J. Proudfoot, K.E. Davies

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

17

P10 The next DMD exon skipping trial: selection of AO target

L. Popplewell, V. Arechavala, A. Saleh, F. Muntoni, M. Gait, G. Dickson

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 68 KB

english, 2012

18

P11 Optimal dystrophin mini-construct for gene delivery to skeletal muscle

M. Reza, S. Laval, F. Muntoni, K. Bushby, V. Straub, J. Morgan, H. Lochmüller

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

19

P12 Neurobehavioural disorders in Duchenne muscular dystrophy

V. Ricotti, W.P.L. Mandy, S.A. Robb, D.H. Skuse, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

20

P13 Assessing viral rescue therapies for Duchenne muscular dystrophy

M. Ritso, E. Dick, M. Reza, S. Laval, K. Bushby, V. Straub, C. Denning, H. Lochmüller

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

21

P14 Roles of α3-integrin in development of the neuromuscular system

J. Ross, T. Lechertier, J. Morgan, F. Muntoni, K. Hodivala-Dilke, F. Conti

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

22

P15 Flow cytometry in the assessment of functional alpha-dystroglycan glycosylation in dystroglycanopathy patient fibroblasts

E. Stevens, S. Torelli, L. Feng, C. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

23

P16 Ocular findings in Duchenne muscular dystrophy – an observational case series

D. Thompson, H. Jägle, M. Theodorou, T. Moore, V. Ricotti, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

24

P17 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

I. Zaharieva, S. Cirak, J. Morgan, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 66 KB

english, 2012

25

P18 Beta-blocker/ACE-inhibitor combination treatment in mdx mice

A. Blain, E. Greally, G. MacGowan, S. Laval, A. Blamire, K. Gillender, H. Lochmüller, K. Bushby, V. Straub

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

26

P19 Structural brain defects associated with a knock-down in fukutin related protein in the mouse

H. Booler, C. Whitmore, M. Fernandez Fuente, S.C. Brown

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

27

P20 Targeting the endogenous stress response in a mouse model of SBMA

A. Gray, N. Nirmalananthan, B. Malik, J. Dick, M. Hanna, L. Greensmith

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

28

P21 Basement membrane deposition in the skeletal muscle of the FKRPknock-down mouse

J. Kim, A. Upadhyaya, M. Fuente Fernandez, C. Whitmore, S.C. Brown

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

29

P22 Chemical inhibitor treatment of a zebrafish model of muscular dystrophy

L. Lipscomb, C. Parkin, S. Winder

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

30

P23 Investigating new mutant models of MND

P. McGoldrick, P. Joyce, A. Acevedo-Arozena, E. Fisher, L. Greensmith

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

31

P24 Investigating the effects of DAO transgenes on the SOD1 mouse model of Amyotrophic Lateral Sclerosis (ALS)

N. Rahmani-Kondori, J. de Belleroche, D.J. Wells

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

32

P25 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies

E. Stevens, K. Caress, S. Torelli, Y.-Y. Lin, S. Cirak, R. Foley, D. Stemple, M. Hurles, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 68 KB

english, 2012

33

P26 Poloxomer 188 has a deleterious effect on skeletal muscle function in the mdx mouse

R.L. Terry, H.M. Kaneb, D.J. Wells

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

34

P27 Does resting laryngoscopy accurately predict severity of muscle histopathology in equine recurrent laryngeal neuropathy?

L.K. Tulloch, J.D. Perkins, R.J. Piercy

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

35

P28 Assessing the therapeutic potential of LARGE in a mouse model for the limb girdle muscular dystrophies

C. Whitmore, H. Booler, R. Terry, A. Ashraf, C. Parr, M.R. Ackroyd, M. Fernandez-Fuente, F. Muntoni, D.J. Wells, S.C. Brown

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

36

P29 Investigating basement membranes in FKRP and fukutin deficient zebrafish

A.J. Wood, J.S. Müller, S.H. Laval, H. Lochmüller, K. Bushby, R. Barresi, V. Straub

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 66 KB

english, 2012

37

P30 Labelling satellite cells on human muscle fibres

L. Boldrin, J.E. Morgan

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

38

P31 Role of Ret in satellite cell myogenesis and facioscapulohumeral muscular dystrophy

L. Moyle, R. Knight, P. Knopp, P. Zammit

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

39

P32 Polycomb group genes and the regenerative process in the aged and pathological human muscle

X. Zhang, H. Bhagat, V. Di Foggia, A. Radunovic, L.G. Robson, S. Marino

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

40

P33 Uncommon neurophysiological pattern in Lambert Eaton syndrome

E. Agazzi, C. Servalli, G. Chiodelli, M. Sgarzi, E. Ubiali

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

41

P34 Muscle degeneration in ion channel dysfunction

N. Baruch, M. Duchen, M.G. Hanna

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

42

P35 The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment

D. Beeson, J. Cossins, S. Maxwell, W-W. Liu, M. Oldridge, S. Finlayson, S. Robb, J. Palace

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

43

P36 Progesterone reduces and shifts the voltage dependence of the skeletal muscle chloride conductance

J. Burge, S. Schorge, M.G. Hanna

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

44

P37 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

A. Chaouch, J.S. Müller, V. Guergueltcheva, M. Dusl, U. Schara, V. Rakocević-Stojanović, C. Lindberg, R.H. Scola, L.C. Werneck, J. Colomer, A. Nascimento, J.J. Vilchez, N. Muelas, Z. Argov, A. Abicht,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 68 KB

english, 2012

45

P38 Episodic muscle and brain channels: Analysis of the PRRT2 gene and screening of a muscle channel panel

A. Gardiner, D. Kullmann, N. Wood, L. Ptacek, H. Houlden, M. Hanna

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

46

P39 Prevalence study of skeletal muscle channelopathies in England

A. Horga, D.L. Raja Rayan, A. Haworth, E. Matthews, D. Fialho, R. Sud, S. Portaro, J.A. Burge, M.B. Davis, M.G. Hanna

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

47

P40 Episodic ataxia: screening candidate genes and genetic analysis of families

F. Jaffer, T. Graves, V. Gibbons, A. Gardiner, J. Hersheson, M. Hanna, H. Houlden

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

48

P41 Genetic analysis of FIG4 in patients with CMT

E. Cottenie, M. Laurá, M. Hanna, D. Dick, J. Blake, H. Houlden, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

49

P42 Hereditary sensory neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases

M. Lauraá, S.M. Murphy, T. Hornemann, H. Bode, J. Polke, J. Blake, H. Houlden, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

50

P43 Mutations of the kinesin family member 5A (KIF5A) gene in patients with pure or complex Charcot-Marie-Tooth type 2 (CMT2)

Y.-T. Liu, M. Laurá, N. Wood, M.M. Reilly, H. Houlden

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

51

P44 Variation in the disability in males of similar age with CMT1X

M.P. Menezes, M. Laura, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 68 KB

english, 2012

52

P45 Referral patterns to a specialised peripheral neuropathy clinic

M.P. Menezes, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

53

P46 Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2

S.M. Murphy, M. Laurá, D. Ernst, Y.-T. Liu, J. Blake, M. Donaghy, J. Winer, H. Houlden, T. Hornemann, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

54

P47 A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy

V.C.M. Neeve, A. Pyle, E. Holinski-Feder, H. Griffin, D. Ashok, C. Foley, G. Hudson, B. Rautensstrauss, H. Lochmüller, M. Santibanez-Koref, P.F. Chinnery, R. Horvath

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

55

P48 Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies

A. Pandraud, J.O. Johnson, A.B. Singleton, P. Clayton, J. Land, I. Hargreaves, A.R. Foley, F. Muntoni, M.M. Reilly, H. Houlden

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 69 KB

english, 2012

56

P49 Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy

E.G. Healy, R. Phadke, M. Kidd, M.M. Reilly, M. Lunn

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

57

P50 Genetic dysfunction of MT-ATP6 can cause axonal Charcot-Marie-Tooth disease

R.D.S. Pitceathly, S.M. Murphy, E. Cottenie, A. Chalasani, M.G. Sweeney, C. Woodward, E.E. Mudanohwo, I. Hargreaves, S. Heales, J.L. Holton, H. Houlden, M.P. Lunn, S. Rahman, M.M. Reilly, M.G. Hanna

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

58

Strengthening hip flexors to improve walking distance in people with Charcot-Marie-Tooth disease

G.M. Ramdharry, A.J. Pollard, C.A. Anderson, M. Laurá, S.M. Murphy, E.J. Hutton, J.F. Marsden, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

59

P52 A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

A.M. Rossor, G. Davidson, H.H. Houlden, B. Kalmar, L. Greensmith, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

60

P53 Novel SDHA and SDHB mutations as a cause of isolated mitochondrial complex II deficiency

C.L. Alston, F.H. van der Westhuizen, L. He, E. Wassmer, J.E. Davison, G. Falkous, R. McFarland, R.W. Taylor

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

61

P54 MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

E.L. Blakely, A. Butterworth, R.D.M. Hadden, I. Bodi, L. He, R. McFarland, R.W. Taylor

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

62

Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

V. Boczonadi, P.M. Smith, K. Sitarz, Z.M.A. Chrzanowska-Lightowlers, R.N. Lightowlers, P.F. Chinnery, R. Horvath

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

63

P56 Mitochondrial DNA deletions do not have a replicative advantage in human muscle

G. Campbell, K.J. Krishnan, R.W. Taylor, D.M. Turnbull

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

64

P57 Development of the Pronuclear Transfer Technique to Prevent Transmission of Mitochondrial DNA Disease in Humans

L. Craven, L. Irving, M. Herbert, D. Turnbull

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

65

P58 Evidence of early cardiac impairment in m.3243A>G mutation carriers

M.G. Bates, K.G. Hollingsworth, J. Newman, D. Jakovljevic, B.J. Dixon, A.M. Blamire, G.A. MacGowan, B.D. Keavney, P.F. Chinnery, D.M. Turnbull, R.W. Taylor, M.I. Trenell, G.S. Gorman

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 70 KB

english, 2012

66

P59 Processing speed is impaired in patients with Mitochondrial Disease

H.L. Moore, M. Allerhand, M. Trennell, I.J. Deary, D.M. Turnbull, G.S. Gorman

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

67

P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease

R.D.S. Piceathly, C. Smith, C. Fratter, E.L. Blakely, C.L. Alston, M. Deschauer, R. Horvath, M.G. Hanna, P.F. Chinnery, D.M. Turnbull, J. Poulton, R.W. Taylor, G.S. Gorman

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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68

P61 Resistance training in patients with mitochondrial myopathy

J.L. Murphy, J. Newman, T.E. Ratnaike, S. Spendiff, G. Falkous, E.L. Blakely, C.L. Alston, R.W. Taylor, M.I. Trenell, G.S. Gorman, D.M. Turnbull

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 67 KB

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69

P62 Long term endurance training and deconditioning in patients with mitochondrial myopathy

J.L. Murphy, T.E. Ratnaike, E. Shang, G. Falkous, E.L. Blakely, C.L. Alston, K. Hickman, H. Chanter, T. Taivassalo, R.G. Haller, R.W. Taylor, D.M. Turnbull

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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PDF, 47 KB

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P63 The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation

V. Nesbitt, R. Pitceathly, S. Cockell, J. Poulton, S. Rahman, M. Hanna, D. Turnbull, R. McFarland

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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71

P64 Improving clinical trials evaluation: physiological and functional correlates in mitochondrial disease

J. Newman, D. Jakovljevic, M.G. Bates, D.M. Turnbull, B. Galna, M.I. Trenell, G.S. Gorman

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

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72

P65 Systematic review of controlled trials in the treatment of mitochondrial disorders

G. Pfeffer, K. Majamaa, D. Turnbull, D. Thorburn, P.F. Chinnery

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

73

P66 Changes in mitochondrial function over time and with exercise in patients with mitochondrial disease

T.E. Ratnaike, J. Murphy, K.J. Krishnan, R.W. Taylor, D.M. Turnbull

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

74

P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation

K.S. Sitarz, P. Yu-Wai-Man, A. Pyle, J.D. Stewart, B. Rautenstrauss, P. Seeman, M.M. Reilly, R. Horvath, P.F. Chinnery

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 70 KB

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P68 A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

J.W. Yarham, J.L. Elson, R.W. Taylor, R. McFarland

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

76

P69 Investigating the effects of pharmacological up-regulation of the heat shock response in an in-vitro model of sporadic inclusion body myositis

M. Ahmed, A. Miller, M.G. Hanna, L. Greensmith

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

77

P70 A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance

M. Henderson, J. Hudson, J. Marsh, R. Charlton, V. Straub, H. Lochmüller, K. Bushby, J. Vissing, R. Barresi

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

78

P71 Characterisation of novel ANO5 antibodies

U. Ramachandran, R. Barresi, G. Marlow, M. Henderson, I. Mahjneh, R. Bashir

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 71 KB

english, 2012

79

P72 A histological evaluation of protein accumulation in inflammatory myopathies

S. Brady, W. Squier, D. Hilton-Jones, C. Sewry, M. Hanna, J.L. Holton

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

80

P73 The natural history of sporadic inclusion body myositis: data from the IBM-Net prospective cohort study

A. Cortese, P. Machado, J. Morrow, L. Dewar, A. Hiscock, A. Miller, S. Brady, D. Hilton-Jones, M. Parton, M.G. Hanna

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

81

P74 Observations on oligo-based therapy for Myotonic Dystrophy

X. Li, T.E. Robinson, A. Ketley, S. Arya, I. Udosen, J. Granados Riveron, D. Furling, C.J. Hayes, J.D. Brook

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

82

P75 The LGMD diagnostic and advisory service in Newcastle, a multidisciplinary approach

R. Charlton, J. Hudson, A. Sarkozy, K. Bushby, R. Barresi

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

83

P76 Bethlem myopathy presenting as a limb girdle muscular dystrophy

L. De Waele, A. Mayhew, V. Straub

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

84

P77 Autosomal recessive desminopathy with desmin-null mutations presenting in childhood

L. De Waele, M. Henderson, J. Hudson, I. Horrocks, C. Longman, K. Bushby, R. Barresi

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

85

P78 Getting to the core of the matter: cores as a common muscle pathology finding in the collagen VI-related myopathies

A.R. Foley, R. Phadke, L. Feng, C.A. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

86

P79 Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing

D. Hicks, E. Martoni, V. Straub, H. Lochmüller, S.H. Laval, K. Bushby

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

87

P80 Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole exome analysis

A. Leidenroth, H. Sørmo Sorte, G. Gilfillan, M. Ehrlich, R. Lyle, J.E. Hewitt

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

88

P81 Compound screening in myotonic dystrophy

S. Arya, X. Li, T.E. Robinson, I. Udosen, C. Chen, C. Austin, D. Furling, C. Hayes, J.D. Brook, A. Ketley

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

89

P82 Myofibrillar myopathies (MFM), valosin containing protein (VCP) and glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) genes' mutations are not associated with sporadic inclusion body myositis (sIBM)

P. Machado, J. Hudson, A. Miller, J. Morrow, M. Parton, K. Bushby, M.G. Hanna

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

90

P83 Investigating mitochondria in cell culture models of core myopathies

I. Munteanu, H. Zhou, I. Hargreaves, T. Yasukawa, M.R. Duchen, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

91

P84 Colchicine myopathy: Pathological analysis of a case with novel findings

R. Phadke, S. Brady, M.M. Reilly

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

92

P85 Frequency and circumstances of falls in people with Inclusion Body Myositis

A. Hiscock, L. Dewar, M. Parton, P. Machado, M. Hanna, G. Ramdharry

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

93

P86 Cytoplasmic Dynein Heavy Chain 1 causes autosomal recessive congenital distal SMA

M. Scoto, R.H. Baloh, S. Cirak, M. Harms, P. Cooper, L. Feng, C. Sewry, A. Manzur, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

94

P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

M. Scoto, T. Cullup, S. Cirak, M. Yau, L. Feng, A. Manzur, H. Jungbluth, S. Abbs, C. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

95

P88 Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy

M. Wagner, S. Laval, J. Mueller, H. Durmus, P. Serdaroglu-Oflazer, H. Lochmüller

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

96

P89 Cardiac MRI in LGMD2I patients

T.A. Willis, K.G. Hollingsworth, B.J. Dixon, G.A. MacGowan, A.M. Blamire, V. Straub

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

97

P90 A morpholino antisense oligonucleotide rescues type I and type III SMA mice

H. Zhou, N. Janghra, K. Anthony, J. Morgan, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

98

P91 RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling and induces the second calcium release system via IP3R

H. Zhou, L. Feng, I. Munteanu, M. Duchen, S. Treves, H. Jungbluth, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

99

P92 Manganese enhanced MRI as a useful in vivo outcome measure in assessing skeletal muscle calcium uptake in mouse models of muscular dystrophy

E. Greally, A. Blain, A.M. Blamire, G. MacGowan, S.H. Laval, V. Straub

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 70 KB

english, 2012

100

P93 MRI quantification of abnormal muscle water distribution in chronic neuromuscular diseases: a sensitive biomarker

J.M. Morrow, C.D.J. Sinclair, A. Fischmann, J.S. Thornton, M.M. Reilly, M.G. Hanna, T.A. Yousry

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

101

P94 Novel muscle fat-fraction MRI metrics for quantifying neuromuscular pathology

C.D.J. Sinclair, J.M. Morrow, A. Fischmann, M.G. Hanna, M.M. Reilly, T.A. Yousry, X. Golay, J.S. Thornton

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

102

P95 Moving forward with TACT: 2 years on

E. Heslop, K. Bushby, C. Csimma, V. Straub, D. Wells, on behalf of TACT

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

103

P96 Clinical research activity in Newcastle MRC centre

J. Maddison, V. Straub, H. Lochmüller, D. Turnbull, P. Chinnery, M. Trennell, R. McFarland, G. Gorman, R. Horvath, K. Busbhy

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

104

P97 New patient registries for Myotonic dystrophy and Facioscapulohumeral muscular dystrophy in the United Kingdom

K. Rafferty, M. Bowler, M. Pohlschmidt, M. Rogers, C. Turner, H. Lochmüller

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

105

P98 MRC NMD Centre Biobank: An overview

M. Reza, D. Johnson, D. Cox, S. Laval, A. Chaouch, R. Barresi, J. Morgan, K. Bushby, V. Straub, F. Muntoni, H. Lochmüller

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

106

P99 CARE-NMD: Improving care for Duchenne muscular dystrophy

S. Rodger, K. Gramsch, J. Vry, H. Lochmüller, K. Bushby, J. Kirschner

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

107

P100 The International Dysferlinopathy Registry and an international clinical outcome study for dysferlinopathy

B. von Rekowski, G. Blandin, M. Krahn, C. Béroud, L. De Waele, K. Bushby

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 42 KB

english, 2012

108

Author index

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

109

P07 Meganuclease-enhanced genome correction therapy for Duchenne muscular dystrophy

L. Popplewell, T. Koo, H. Kymäläinen, X. Leclerc, A. Duclert, V. Mouly, T. Voit, F. Paques, F. Cedrone, R. Yáñez-Muños, G. Dickson

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012