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Volume 16; Issue 9-10
Main
Neuromuscular Disorders
Volume 16; Issue 9-10
Neuromuscular Disorders
Volume 16; Issue 9-10
1
Author Index
Journal:
Neuromuscular Disorders
Year:
2006
File:
PDF, 64 KB
Your tags:
2006
2
Induced dystrophin exon skipping in human muscle explants
G. McClorey
,
A.M. Fall
,
H.M. Moulton
,
P.L. Iversen
,
J.E. Rasko
,
M. Ryan
,
S. Fletcher
,
S.D. Wilton
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 255 KB
Your tags:
english, 2006
3
N.I.1 Inherited peripheral neuropathies: A clinical roadmap
M.M. Reilly
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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english, 2006
4
N.I.2 The never ending story of genetics of inherited peripheral neuropathies
P. De Jonghe
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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english, 2006
5
N.I.3 Myelin and axons: Lessons learned from inherited peripheral neuropathies
U. Suter
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 60 KB
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english, 2006
6
N.I.4 Analysis of the molecular basis of spinal muscular atrophy
U. Fischer
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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english, 2006
7
N.I.5 Clinical and pathophysiological concepts of spinal muscular atrophy with relaxatio diaphragmatica (SMARD1)
K. von Au-Grohmann
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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english, 2006
8
G.O.1 In vitro expression of small heat shock protein HSPB8 and HSPB1 mutations causing axonal neuropathy
J. Irobi
,
I. Dierick
,
V. de Corte
,
J. Gettemans
,
W. Robberecht
,
L. Van Den Bosch
,
J.-P. Timmermans
,
P. De Jonghe
,
V. Timmerman
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 58 KB
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english, 2006
9
G.O.2 A clinical and pathological study of congenital fibre type disproportion
N.F. Clarke
,
V. Gonzalez
,
A.J. Kornberg
,
L.K. Shield
,
J.I. Manson
,
R.L.L. Smith
,
A.H. Beggs
,
S. Arbuckle
,
A.J. Bourne
,
X. Dennett
,
I. Nonaka
,
P. Guicheney
,
A. Ferreiro
,
K.N. North
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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english, 2006
10
G.O.3 Molecular diagnosis of congenital myasthenic syndromes (CMS): Experience of the French network
P. Richard
,
J. Koenig
,
D. Hantaï
,
B. Eymard
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 56 KB
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english, 2006
11
G.O.4 Immune-mediated rippling muscle disease with myasthenia gravis: a report of 7 patients
B.G.H. Schoser
,
D. Hilton-Jones
,
W. Müller-Felber
,
C. Kubisch
,
A. Vincent
,
P. Van den Bergh
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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english, 2006
12
G.O.5 Impairment of signal transduction pathways in hereditary inclusion body myopathy
S. Amsili
,
Z. Shlomai
,
R. Levitzki
,
H. Ben Bassat
,
S. Mitrani-Rosenbaum
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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english, 2006
13
G.O.6 “Pseudo-Lupus”, benign neutropenia, and other probably non-worrisome blood-component changes due to IVIG treatment
W.K. Engel
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 57 KB
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14
N.P.1 01 Muscle excitability abnormalities in Machado-Joseph disease: Preliminary report
M.C. França Jr.
,
A. d’Abreu
,
A. Nucci
,
I. Lopes-Cendes
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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english, 2006
15
N.P.1 02 Peripheral nerve involvement in Machado-Joseph disease: A neurophysiological study in a large cohort of patients
M.C. França Jr.
,
A. d’Abreu
,
A. Nucci
,
I. Lopes-Cendes
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 55 KB
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english, 2006
16
N.P.1 03 Peripheral nerve abnormalities in hereditary spastic paraplegia with thin corpus callosum
M.C. França Jr.
,
A. d’Abreu
,
A. Nucci
,
I. Lopes-Cendes
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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17
N.P.1 04 Neuropathy in degenerative early-onset cerebellar ataxias
M.M. Bos
,
H.J. Schelhaas
,
B.P.C. van de Warrenburg
,
M.J. Zwarts
,
H.P.H. Kremer
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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english, 2006
18
N.P.1 05 Cytogenetic aberrations in neuropathy associated with IgM monoclonal gammopathy
M. Eurelings
,
H.M. Lokhorst
,
N.C. Notermans
,
P.J. Krijtenburg
,
B. van Kessel
,
M.J. Eleveld
,
A.C. Bloem
,
J.H. Wokke
,
M. Poot
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 54 KB
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english, 2006
19
N.P.1 06 Distal hereditary motor neuropathies
A.P. Geraldo
,
L. Negrão
,
A. Matos
,
A. Morgadinho
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 41 KB
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english, 2006
20
N.P.1 07 Rituximab for IgM MGUS polyneuropathy: an uncontrolled trial
J.M.F. Niermeijer
,
M. Eurelings
,
H. Lokhorst
,
H. Franssen
,
J.H.J. Wokke
,
N.C. Notermans
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 41 KB
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21
N.P.1 08 Monomelic amyotrophy: study of two cases
N. Fahmy
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 41 KB
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22
N.P.1 09 Genetic epidemiology of familial amyloid polyneuropathy in Portugal
T. Coelho
,
A.M. Silva
,
L. Maia
,
A. Sousa
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 54 KB
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english, 2006
23
N.P.1 10 A mutation in the ALS8 gene in a patient with a limb-girdle phenotype
M.L. Magalhães
,
R.C. Pavanello
,
H.C.A. Silva
,
M. Vainzof
,
M. Zatz
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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english, 2006
24
N.P.2 01 Spinal muscular atrophy: correlation between the number of SMN2 genes and functional ability
F.D. Tiziano
,
E. Bertini
,
C. Angelozzi
,
S. Messina
,
A. d’Amico
,
R. Battini
,
A. Berardinelli
,
P. Boffi
,
C. Bruno
,
L. Morandi
,
M. Pane
,
A. Pini
,
M. Villanova
,
E. Mercuri
,
C. Brahe
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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25
N.P.2 02 Wide clinical spectrum among SMA patients carrying 2 or 3 SMN2 copies: limitation of SMN2 copy numbers as clinical prognostic indicator in individual cases
N.M.L. Goemans
,
G. Matthijs
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 55 KB
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26
N.P.2 03 Correlation between SMN2 copy number variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid
E. Zapletalova
,
P. Vondracek
,
B. Jerabkova
,
R. Gaillyova
,
L. Fajkusova
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 42 KB
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english, 2006
27
N.P.2 04 Patients with spinal muscular atrophy (SMA) and healthy siblings sharing homozygous deletions of the SMN1 gene reveal an identical number of SMN2 gene copies but different SMN protein levels
H.H. Lemmink
,
Y.J. Vos
,
I. Plaza de Menacho
,
J. Dijkhuis
,
N.V.A.M. Knoers
,
M. de Visser
,
C.H.C.M. Buys
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 42 KB
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english, 2006
28
N.P.2 05 A previously unreported non-sense mutation in SMN1 causes spinal muscular atrophy
E.L. Arkblad
,
K. Berg
,
S.V. Jacobsen
,
J.M. Hertz
,
M. Nordling
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 49 KB
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29
N.P.2 06 Canceiied
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 50 KB
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english, 2006
30
N.P.2 07 Identification and characterisation of Fugu rubripes SMN gene
P. Kathirvel
,
W.-P. Yu
,
C.-C. Lim
,
P.-S. Lai
,
W.-C. Yee
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 49 KB
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english, 2006
31
N.P.2 08 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene
N. Barisic
,
K. von Au
,
M. Rados
,
L. Pazanin
,
S. Galic
,
M. Cvitkovic
,
M. Novak
,
H. Lochmueller
,
K. Sperling
,
I. Lehman
,
R. Varon
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 49 KB
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english, 2006
32
G.P.1 01 Clinical presentation and disease progression in late-onset Pompe disease
D.M. Escolar
,
J.H.J. Wokke
,
A. Pestronk
,
G.T. Carter
,
K.M. Jaffe
,
P. Laforêt
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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english, 2006
33
G.P.1 02 The Pompe registry: centralized data collection to outline the natural course of Pompe disease
A. van der Ploeg
,
W. Mueller-Felber
,
B. Byrne
,
L. Merlini
,
P. Kishnani
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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english, 2006
34
G.P.1 03 Construction of a specific health questionnaire for patients with late-onset Pompe disease
N.A.M.E. van der Beek
,
M.L.C. Hagemans
,
A.T. van der Ploeg
,
P.A. van Doorn
,
I.S.J. Merkies
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 57 KB
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english, 2006
35
G.P.1 04 Clinical features and diagnostic tools in adults with debrancher deficiency (glycogen storage disease type III)
A. Nadaj-Pakleza
,
P. Labrune
,
C. Wary
,
J.Y. Hogrel
,
P. Carlier
,
M. Gargiulo
,
A. Herson
,
B. Eymard
,
P. Laforêt
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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english, 2006
36
G.P.1 05 The clinical spectrum of glycogen storage disease type IV (Andersen disease)
G.P. Raju
,
S.-C. Li
,
D.S. Bali
,
J. Anderson
,
K.R. McAlmon
,
H.B. Kim
,
M.M. Jonas
,
L.B. Smoot
,
Y.-T. Chen
,
D.K. Urion
,
B.T. Darras
,
H.G.W. Lidov
,
P.B. Kang
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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37
G.P.1 06 Clinical, histologic, and genetic studies in two Portuguese families with McArdle’s disease
R. Chorão
,
J.P. Gabriel
,
S. Sousa
,
A. Ramos
,
L. Galán
,
H. Rocha
,
M.R. Silva
,
A. Guimarães
,
M.L. Cardoso
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 56 KB
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english, 2006
38
G.P.1 07 AMP-activated protein kinase gene mutation: a new cause of muscular glycogenosis associated with hypertrophic cardiomyopathy and conduction defect
P. Laforêt
,
P. Richard
,
M. Aït Saïd
,
N.B. Romero
,
E. Lacène
,
J.-P. Leroy
,
C. Baussan
,
J.-Y. Hogrel
,
T. Lavergne
,
K. Wahbi
,
B. Hainque
,
D. Duboc
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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english, 2006
39
G.P.1 08 Phenotype–genotype correlation in two families with muscle phosphofructokinase deficiency
A. Toscano
,
C. Bruno
,
O. Musumeci
,
C. Rodolico
,
D. Cassandrini
,
M. Aguennouz
,
L. Serlenga
,
S. Zoccolella
,
A. Amati
,
G. Vita
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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english, 2006
40
G.P.2 01 Alpha-synuclein and parkin are novel proteins accumulated in ragged red fibers
O. Paciello
,
S. Wojcik
,
W.K. Engel
,
V. Askanas
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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41
G.P.2 02 In cultured human muscle fibers (CHMFs) amyloid-β precursor protein (AβPP) and proteasome inhibition increase αB-crystallin (αBC). Relevance to sporadic inclusion-body myositis (s-IBM)
S. Wojcik
,
W.K. Engel
,
J. McFerrin
,
O. Paciello
,
V. Askanas
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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42
G.P.2 03 Specific interrelationship between inflammation and β-amyloid-related degeneration in sporadic inclusion body myositis (sIBM)
J. Schmidt
,
R. Raju
,
M. Salajegheh
,
G. Rakocevic
,
M.C. Dalakas
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 59 KB
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43
G.P.2 04 A GNE knockout mouse expressing human V572L mutation develops features similar to Nonaka myopathy or distal myopathy with rimmed vacuoles (DMRV)
M.C. Malicdan
,
S. Noguchi
,
Y.K. Hayashi
,
I. Nonaka
,
I. Nishino
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 46 KB
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english, 2006
44
G.P.2 05 Proteomic and glycan profiles of myotubes from hereditary inclusion body myopathy
I. Salama
,
V. Ledger
,
Z. Shlomai
,
H. Ben Bassat
,
A. Dell
,
S. Haslam
,
S. Mitrani-Rosenbaum
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 46 KB
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45
G.P.2 06 Proteomic analysis of inclusion body myositis
J. Li
,
C. Yin
,
H. Okamoto
,
H. Jaffe
,
E.H. Oldfield
,
Z. Zhuang
,
A.O. Vortmeyer
,
E.J. Rushing
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 59 KB
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english, 2006
46
G.P.2 07 Expression of inhibitor κB-α in idiopathic inflammatory myopathies
K.K. Creus
,
B. De Paepe
,
N. D’Haese
,
B. Werbrouk
,
G. De Coninck
,
J.L. De Bleecker
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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english, 2006
47
G.P.3 01 Isolated myopathy with muscle coenzyme Q10 deficiency
H. Topaloğlu
,
B. Talim
,
D. Orhan
,
G. Haliloğlu
,
R. Horwath
,
G. Kale
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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english, 2006
48
G.P.3 02 Six children with early-onset mitochondrial encephalomyopathy and one heterozygous pathogenic mutation in POLG1
B. Talim
,
N. Fütterer
,
B. Plecko
,
G. Kale
,
H. Topaloglu
,
R. Horvath
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 57 KB
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49
G.P.3 03 Novel nuclear encoded autosomal recessive mitochondriopathy
S. Cirak
,
J. Klepper
,
M. Abunada
,
R. Rodenburg
,
F. Stehling
,
R. Herrmann
,
J.M. Schröder
,
J. Smeitink
,
P. Nuernberg
,
Th. Voit
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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50
G.P.3 04 Complex V subcomplexes suggestive of a defective intramitochondrial protein translation
R. Van Coster
,
J. Smet
,
B. De Paepe
,
S. Seneca
,
A. Meulemans
,
W. Lissens
,
L. De Meirleir
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 44 KB
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english, 2006
51
G.P.3 06 An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities
P. Vondracek
,
M. Hermanova
,
K. Vodickova
,
L. Fajkusova
,
R.W. Taylor
,
D.M. Turnbull
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 57 KB
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52
G.P.3 07 Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNAphe gene
A.R. Moslemi
,
N. Darin
,
G. Kolberg
,
M. Tulinius
,
E. Holme
,
M. Andersson Grönlund
,
S. Andersson
,
A. Oldfors
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 46 KB
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english, 2006
53
G.P.3 08 Novel mutations in the CHRNB1 gene in three patients affected by a congenital myasthenic syndrome
J.S. Müller
,
F. Hoellen
,
U. Schara
,
J. Johannsen
,
K. Bentele
,
V. Rakocevic Stojanovic
,
V. Milic Rasic
,
S. Todorovic
,
A. Abicht
,
H. Lochmüller
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 46 KB
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english, 2006
54
G.P.3 09 Severe neonatal myasthenia due to maternal anti-MuSK antibodies
A. Behin
,
M. Mayer
,
L. Chatenoud
,
X. Ferrer
,
C. Espil-Taris
,
P. Laforêt
,
B. Eymard
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 63 KB
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english, 2006
55
P.P.1 01 Congenital muscular dystrophy with mental retradation due to a homozygous protein-o-mannosyltransferase 2 (POMT2) mutation: A case report
P.Y.K. Van den Bergh
,
C. Bouchet
,
S. Maugenre
,
A. Yanagisawa
,
G. Cosnard
,
F. Leturcq
,
N. Deburgrave
,
N. Séta
,
P. Guicheney
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 49 KB
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english, 2006
56
P.P.1 02 Combined approaches to diagnosis of congenital muscular dystrophies with α-dystroglycan hypoglycosylation
C. Bouchet
,
H. Manya
,
A. Yanagisawa
,
S. Maugenre
,
S. Quijano-Roy
,
B. Estournet
,
L. Merlini
,
H. Topaloglu
,
N.B. Romero
,
F. Leturcq
,
N. Seta
,
T. Endo
,
P. Guicheney
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 49 KB
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english, 2006
57
P.P.1 03 A clinical, morphological and genetic study of congenital muscular dystrophies in Algeria
S. Makri
,
N. Terki
,
S. Belarbi
,
S. Assami
,
S. Maugenre
,
C. Gartioux
,
V. Allamand
,
P. Richard
,
N.B. Romero
,
M. Ait Kaci-Ahmed
,
D. Grid
,
P. Guicheney
,
M. Tazir
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 61 KB
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english, 2006
58
P.P.1 04 Algerian FKRP mutations causing MDC1C congenital muscular dystrophy with mental retardation
S. Makri
,
P. Richard
,
S. Maugenre
,
N. Terki
,
S. Quijano-Roy
,
S. Assami
,
N.B. Romero
,
M. Ait-Kaci
,
P. Guicheney
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
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english, 2006
59
P.P.1 05 Magnetic resonance imaging findings in a newborn with merosin-deficient congenital muscular dystrophy
G. Haliloglu
,
K. Karli Oguz
,
D. Orhan
,
M. Yurdakok
,
H. Topaloglu
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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60
P.P.1 06 Magnetic resonance imaging and spectroscopy findings in a patient with partial merosin deficiency
G. Haliloglu
,
K. Karli Oguz
,
A. Ozturk
,
Z. Akcoren
,
M. Caglar
,
H. Topaloglu
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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61
P.P.1 07 Limitation of neck movement may be a feature of most of the childhood neuromuscular disorders
M. Main
,
M. Kinali
,
F. Muntoni
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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62
N.P.3 01 Tyrosyl-tRNA synthetase (YARS), molecular genetics and functional studies on a dominant intermediate Charcot-Marie-Tooth associated gene
R.B. Leitão Gonçalves
,
A. Jordanova
,
P. Callaerts
,
V. Timmerman
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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63
N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene
J. Colomer
,
R. Gooding
,
D. Angelicheva
,
R.H.M. King
,
Y. Parman
,
A. Nascimento
,
J. Conill
,
L. Kalaydjieva
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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64
N.P.3 03 Three novel mutations of the myelin Po gene (MPZ) in Portuguese families with CMT1B
T. Coelho
,
M. Santos
,
R. Cerqueira
,
M.M. Pires
,
L. Lameiras
,
H. Gabriel
,
A.R. Fernandes
,
P. Tavares
,
A. Guimarães
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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65
N.P.3 04 A novel Pro105Thr mutation in the MPZ gene causes late onset CMT2 disease with hearing impairment
A. Kochański
,
D. Kabzińska
,
T. Korwin-Piotrowska
,
H. Drechsler
,
H. Drac
,
I. Hausmanowa-Petrusewicz
Journal:
Neuromuscular Disorders
Year:
2006
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english
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66
N.P.3 05 Mitofusin 2 mutations are a major cause for autosomal dominant axonal CMT neuropathy
K. Verhoeven
,
K.G. Claeys
,
S. Züchner
,
J.M. Schröder
,
J.M. Vance
,
V. Timmerman
,
P. De Jonghe
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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67
N.P.3 06 In vitro analysis of MFN2 mutations associated with Charcot-Marie-Tooth disease
R.H. Baloh
,
J. Milbrandt
,
A. Pestronk
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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68
N.P.3 07 A diagnostic guideline for chronic polyneuropathy, a prospective implementation study
N.C. Notermans
,
A.F.J. Vrancken
,
E. Buskens
,
H. Franssen
,
M. Vermeulen
,
J.H.J. Wokke
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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69
N.P.3 08 Contribution of the nerve biopsy in hereditary peripheral neuropathies
A. Vital
,
X. Ferrer
,
A. Lagueny
,
M.-H. Canron
,
C. Goizet
,
C. Vital
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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70
N.P.3 09 Hereditary neuropathies in a pediatric clinic
M.A. Santos
,
T. Coelho
,
A. Machado
,
R. Cerqueira
,
A. Fernandes
,
P. Tavares
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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71
N.P.4 01 Relationship between outcome measures assessing strength and function in children with spinal muscular atrophy (SMA) type II and III
K.J. Krosschell
,
C. Scott
,
J.A. Maczulski
,
K.J. Swoboda
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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72
N.P.4 02 Motor function measure that permits the evaluation of ambulatory spinal muscular atrophy patients
J.M. Rascoll
,
A.M. Glanzman
,
S. Riley
,
J. Quigley
,
J. Flickinger
,
P. Ryan
,
M. McDermott
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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73
N.P.4 03 The CHOP INTEND: A reliable motor scale for infants with neuromuscular disease
R.S. Finkel
,
A.M. Glanzman
,
M. Main
,
E. Bertini
,
E. Mercuri
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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74
N.P.4 04 Reliability of the modified Hammersmith functional motor scale in children less than 30 months of age
K.J. Krosschell
,
C. Scott
,
J.A. Maczulski
,
J. Wood
,
A. Stokes-Harsin
,
K.J. Swoboda
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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75
N.P.4 05 Comparison of quantitative muscle testing and hand-held myometry in spinal muscular atrophy
L.S. Hynan
,
A. Glanzman
,
L. Nelson
,
R.S. Finkel
,
S.T. Iannaccone
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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76
N.P.4 06 Natural history of severe infantile spinal muscular atrophy – preliminary results of a pilot study
S. Rudnik-Schöneborn
,
K. Zerres
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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77
N.P.4 07 Typical spinal muscular atrophy with pharmacoresistant epilepsy: A pediatric case report
J.M. Cuisset
,
F. Couttenier
,
S. Auvin
,
J.C. Cuvellier
,
G. Soto-Ares
,
L. Vallée
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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78
N.P.4 08 Clinical heterogeneity of progressive spinal muscular atrophy in adults
T.R. Stuchevskaya
,
V.M. Kazakov
,
Y.M. Roshak
,
D.I. Rudenko
,
O.V. Posohina
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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79
N.P.4 09 Percutaneous gastrostomy in Werdnig–Hoffman disease
J. Vajsar
,
S. Manhant
,
K. Sy
,
N. Taback
,
P.C. Chait
,
W. Biggar
,
J.N. Friedman
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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80
P.P.2 01 Retrospective longitudinal study of muscular strength and gait speed in adult patients with myotonic dystrophy type 1
E. Hammarén
,
G. Kjellby-Wendt
,
C. Lindberg
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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81
P.P.2 02 Aberrant DMPK expression in DM1 and DM2 patients
O. Raheem
,
J. Holmlund-Hampf
,
T. Suominen
,
A. Vihola
,
H. Haapasalo
,
R. Krahe
,
B. Udd
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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82
P.P.2 03 Increased K+ release during exercise in myotonic dystrophy type 1 (DM1) but not type 2 (DM2, PROMM)
F. Hanisch
,
K. Eger
,
H. Hartl
,
A. Scharf
,
M. Kornhuber
,
S. Zierz
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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83
P.P.2 05 Muscleblind-like protein 1 nuclear sequestration and splicing pattern in myotonic dystrophy type 2
R. Cardani
,
E. Mancinelli
,
A. Botta
,
G. Novelli
,
G. Meola
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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84
P.P.2 06 ClC1 chloride channel gene mutations in myotonic dystrophy type 2 patients
T. Suominen
,
O. Raheem
,
A. Vihola
,
H. Haapasalo
,
R. Krahe
,
B. Udd
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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85
P.P.2 07 Molecular genetic diagnostics of myotonic dystrophy and facioscapulohumeral muscular dystrophy in Czech patients
J. Sedlackova
,
L. Fajkusova
,
Z. Lukas
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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86
P.P.3 01 Hand function in inclusion body myositis
M. Eriksson
,
C. Lindberg
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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87
P.P.3 02 Raised troponin T in inclusion body myositis is common and serum levels are persistent over time
C. Lindberg
,
L. Klintberg
,
A. Oldfors
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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88
P.P.3 03 Macrophage migration inhibitory factor in normal skeletal muscle and inflammatory myopathies
J. Reimann
,
S. Schnell
,
S. Schwartz
,
R. Dodel
,
M. Bacher
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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89
P.P.3 04 Autophagic vacuolar myopathies: Immunochemical and molecular characterization
C. Di Blasi
,
L. Morandi
,
S. Saredi
,
F. Blasevich
,
E. Mariani
,
G.P. Comi
,
C. Lamperti
,
M. Moggio
,
P. Bernasconi
,
M. Mora
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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90
P.P.3 05 Valosin-containing-protein myopathy: clinical, histopathological features and molecular data: a French series
H. Hammouda
,
P. Richard
,
P. Laforêt
,
C. Ledeuil
,
I. Pénisson
,
T. Stojkovic
,
G. Bassez
,
B. Eymard
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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91
P.P.3 06 New c-terminal titin mutations in tibial muscular dystrophy
P. Hackman
,
S. Marchand
,
I. Pénisson-Besnier
,
E.-H. Hammouda
,
I. Illa
,
B. Eymard
,
J.M. Pardal-Fernandez
,
I. Richard
,
B. Udd
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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92
P.P.3.07 Distal myopathies in Thailand
T. Liewluck
,
T. Pho-iam
,
C. Limwongsri
,
K. Boonyapisit
,
K. Murayama
,
Y.K. Hayashi
,
I. Nishino
,
I. Nonaka
,
T. Sangruchi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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93
G.P.4.01 Rare congenital presentation of Emery-Dreifuss muscular dystrophy due to a novel de-novo LMNA mutation R249W
L. Medne
,
A. Glanzman
,
J. Flickinger
,
T. Estilow
,
M. Rozenberg
,
C. Bönnemann
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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94
G.P.4.02 Pathophysiological mechanisms of lamin A/C associated Charcot-Marie-Tooth disease (CMT2B1/ARCMT2)
Y. Poitelon
,
T. Hamadouche
,
A. De Sandre-Giovannoli
,
S. Kozlov
,
N. Serradj
,
M. Tazir
,
M. Chaouch
,
D. Grid
,
C. Stewart
,
M. Jamon
,
V. Delague
,
N. Lévy
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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95
G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies
L. Politano
,
V.M. Ventriglia
,
A. Palladino
,
G. Piluso
,
L. Passamano
,
V. Nigro
,
V.R. Petretta
,
L.I. Comi
,
G. Nigro
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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96
G.P.4.04 Lamin A/C gene mutation as a cause of dropped head syndrome. Extending the striated muscle laminopathies
A. Nascimento
,
J. Colomer
,
J. Demay
,
R. Ben Yaou
,
P. Richard
,
G. Bonne
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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97
G.P.4.05 Phenotypic clustering of lamin A/C mutations in neuromuscular patients
S. Benedetti
,
I. Menditto
,
M. Degano
,
C. Rodolico
,
L. Merlini
,
A. d’Amico
,
L. Palmucci
,
L. Morandi
,
E. Bertini
,
A. Toscano
,
P. Carrera
,
G. Comi
,
A. Quattrini
,
M. Ferrari
,
S.C. Previtali
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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98
G.P.4.06 A new intermediate phenotype in a Swiss family with mutation in the LMNA gene
M. Dunand
,
G. Gremion
,
P.Y. Jeannet
,
X. Jeanrenaud
,
R. Ben Yaou
,
G. Bonne
,
T. Kuntzer
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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99
G.P.4.07 Pathophysiological exploration of striated muscles of KI LmnaH222P mouse model of Emery-Dreifuss muscular dystrophy
V. Decostre
,
S. Varnous
,
L. Khouzami
,
C. Adamy
,
F. Fougerousse
,
M. Durand
,
N. Guerchet
,
T. Arimura
,
G. Candiani
,
C. Massart
,
F. Pecker
,
G. Bonne
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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100
G.P.4.08 Three kinds of model mice for nuclear envelopathy
Y.K. Hayashi
,
M.N. Astejada
,
R. Ozawa
,
M. Fujita
,
S. Noguchi
,
I. Nonaka
,
C.L. Stewart
,
I. Nishino
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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101
G.P.4.09 Looking for a third gene causing Emery-Dreifuss muscular dystrophy: Lessons and perspectives
L. Gueneau
,
R. Ben Yaou
,
L. Demay
,
S. Llense
,
N. Deburgrave
,
F. Leturcq
,
P. Richard
,
G. Bonne
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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102
P.P.4 01 Glyc-O-genetics of Walker–Warburg syndrome and related disorders
J. van Reeuwijk
,
S. Maugenre
,
C. Van den Elzen
,
A. Verrips
,
E. Bertini
,
F. Muntoni
,
L. Merlini
,
H. Scheffer
,
H.G. Brunner
,
P. Guicheney
,
H. Van Bokhoven
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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103
P.P.4 02 A requirement of direct binding of human POMT1 and POMT2 for protein O-mannosyltransferase activity
H. Manya
,
K. Akasaka-Manya
,
T. Endo
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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104
P.P.4 03 The first successful prenatal diagnosis in two different forms of muscular dystrophies: MEB and LGMD2M
B. Balci
,
H. Topaloglu
,
P. Dinçer
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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105
P.P.4 04 Disruption of fukutin causes dysmyelination of peripheral nerve
F. Saito
,
T. Masaki
,
D. Zhong
,
Y. Saito
,
S. Takeda
,
T. Shimizu
,
T. Toda
,
K. Matsumura
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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106
P.P.4 05 The use of FRET analysis to look at the interaction of glycosyltransferases responsible for dystroglycanopathies
M. Kaluarachchi
,
L. Skordis
,
M. Brockington
,
F. Muntoni
,
S.C. Brown
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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107
P.P.4 06 Limb-girdle muscular dystrophy and mental retardation (LGMD2M) has a heterogeneous background
G. Haliloglu
,
B. Balci
,
B. Talim
,
P. Dinçer
,
H. Topaloglu
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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108
P.P.4 07 Phenotype and muscle biopsy findings in the first German patient with limb-girdle muscular dystrophy 2K – Important differential diagnosis of Becker muscular dystrophy
U. Schara
,
W. Kress
,
M. Vorgerd
,
C. Gross
,
J. Winkler
,
U. Hehr
,
W. Mortier
,
G. Uyanik
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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109
P.P.4 08 Pediatric patients homozygous for the c.826C > A missense mutation in the FKRP gene: Experience from a Norwegian pediatric service
M. Rasmussen
,
C. Jonsrud
,
O.C. Borota
,
S. Lindal
,
N. Breivik
,
M. Mork
,
K. Skullerud
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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110
P.P.4 09 Spectrum of mutations and prevalence of FKRP associated disease in Norway
C. Jonsrud
,
S. Lindal
,
T. Torbergsen
,
E. Stensland
,
M. Rasmussen
,
O. Borota
,
K. Skullerud
,
L.A. Bindoff
,
T. Fiskerstrand
,
F.M. Thyssen
,
Ø. Nilssen
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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111
P.P.4 10 Galectin-1 and -3 expression in patients with mutations in the FKRP gene
L.U. Yamamoto
,
R. Chammas
,
M. Zatz
,
M. Vainzof
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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112
P.I.1 Molecular basis of facioscapulohumeral muscular dystrophy
S.M. van der Maarel
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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113
P.I.2 Laminopathies affecting the striated muscle
R. Ben Yaou
,
V. Decostre
,
L. Gueneau
,
S. Stora
,
L. Renou
,
K. Chikhaoui
,
L. Demay
,
P. Richard
,
G. Bonne
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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114
P.I.3 Recent advances in defective prelamin A associated syndromes
C.L. Navarro
,
A. DeSandre-Giovannoli
,
I. Boccaccio
,
C. Badens
,
P. Cau
,
C. Lopez-Otin
,
N. Lévy
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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115
P.I.4 Biology and pathology of caveolins
Michael Lisanti
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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116
P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
J. Senderek
,
M. Krieger
,
C. Stendel
,
K. North
,
F. Muntoni
,
S. Quijano-Roy
,
F. Ebinger
,
J.M. Schröder
,
T. Voit
,
J. Weis
,
H. Topaloglu
,
K. Zerres
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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117
P.O.1 Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations
C. Godfrey
,
R. Mein
,
M. Brockington
,
E. Elson
,
H. Topaloglu
,
J. Smith
,
D. Escolar
,
E. Bertini
,
I. Merlini
,
E. Mercuri
,
K. Bushby
,
V. Straub
,
K. North
,
S. Abbs
,
F. Muntoni
Journal:
Neuromuscular Disorders
Year:
2006
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118
P.O.2 Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
M. Taniguchi
,
H. Kurahashi
,
S. Noguchi
,
J. Sese
,
T. Okinaga
,
T. Tsukahara
,
P. Guicheney
,
K. Ozono
,
I. Nishino
,
S. Morishita
,
T. Toda
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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119
P.O.3 Molecular pathogenesis of caveolinopathy in a mouse model of LGMD1C
Y. Sunada
,
Y. Ohsawa
,
H. Hagiwara
,
N. Naoe
,
Y. Kuroda
,
T. Kawase
,
T. Murakami
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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120
P.O.4 A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12
V. Bolduc
,
J. Jarry
,
M.F. Rioux
,
Y. Robitaille
,
V. Khoury
,
I. Thiffault
,
M. Tétreault
,
L. Loisel
,
J.P. Bouchard
,
B. Brais
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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121
T.P.1 01 RNA-based gene therapy for dominantly inherited neuromuscular disorders
J. Puymirat
,
R. Pelletier
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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122
T.P.1 02 A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium
V. Arechavala
,
K. Bushby
,
G. Dickson
,
I. Graham
,
M. Kinali
,
K. Liu
,
J. Morgan
,
F. Muntoni
,
L. Popplewell
,
T. Partridge
,
F. Thorogood
,
K. Wells
,
N. Wells
,
M. Wood
,
H. Yin
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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123
T.P.1 03 Gene expression profiling to monitor therapeutic and adverse effects of antisense-induced exon skipping for Duchenne muscular dystrophy
P.A.C. ’t Hoen
,
C.G.C. van der Wees
,
A. Aartsma-Rus
,
R. Turk
,
A. Goyenvalle
,
O. Danos
,
L. Garcia
,
G.J.B. van Ommen
,
J.C.T. van Deutekom
,
J.T. den Dunnen
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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124
T.P.1 04 Towards safe and efficient full-body delivery of antisense oligonucleotides for the treatment of Duchenne muscular dystrophy
J.A. Heemskerk
,
C.L. de Winter
,
N. Heuvelmans
,
P. van Kuik
,
S. de Kimpe
,
G. Platenbur
,
J.C.T. van Deutekom
Journal:
Neuromuscular Disorders
Year:
2006
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english
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125
T.P.1 05 Antisense oligonucleotide design for therapeutic antisense-mediated exon skipping for Duchenne muscular dystrophy
A. Aartsma-Rus
,
C.L. de Winter
,
W.E. Kaman
,
A.A.M. Janson
,
J.C.T. van Deutekom
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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126
T.P.1 06 Improvement of muscle mass after injection of AAV vectors expressing either myostatin shRNA or activin receptor IIb shRNA
J. Dumonceaux
,
S. Marie
,
L. Garcia
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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127
T.P.1 07 Therapeutic benefit of AAV-mediated injection of a mutated propeptide of myostatin in calpain 3 deficient mice
M. Bartoli
,
J. Poupiot
,
F. Fougerousse
,
L. Arandel
,
N. Daniele
,
F. Noulet
,
A. Vulin
,
L. Garcia
,
O. Danos
,
I. Richard
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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128
T.P.1 08 Autologous transplantation of muscle-derived AC133+ stem cells
M. Belicchi
,
C. Marchesi
,
R. Benchaouir
,
G. D’Antona
,
V. Mouly
,
G. Buttler-Browne
,
G. Cossu
,
N. Bresolin
,
L. Garcia
,
Y. Torrente
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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129
T.P.1 09 Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy
H. Hagiwara
,
Y. Ohsawa
,
S. Asakura
,
T. Murakami
,
T. Teshima
,
Y. Sunada
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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130
P.P.5 01 RYR1 genotype–phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations
H. Zhou
,
H. Jungbluth
,
S. Treves
,
E. Bertini
,
V. Straub
,
K. Bushby
,
C. Sewry
,
F. Muntoni
Journal:
Neuromuscular Disorders
Year:
2006
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english
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131
P.P.5 02 Muscle MRI in a family with congenital myopathy with cores and rods associated with a novel missense mutation in the ryanodine receptor 1 gene
M. von der Hagen
,
A.M. Kaindl
,
W. Kress
,
P. Mitzscherling
,
A. Hübner
,
C.R. Reible
,
G. Hahn
,
G. Stoltenburg-Didinger
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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132
P.P.5 03 Generalized muscle hypertrophy, multi-minicores and ryanodine receptor type 1 gene mutation – case report
L.J. Negrão
,
A. Geraldo
,
O. Rebelo
,
A. Matos
,
M. Pires
,
C. Marques
,
R. Santos
Journal:
Neuromuscular Disorders
Year:
2006
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english
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133
P.P.5 04 Regulation of muscle contraction in a novel myopathy associated with a mutation in the beta-tropomyosin (TPM2) gene
J. Ochala
,
E. Kimber
,
H. Tajshargi
,
M. Tulinius
,
A. Oldfors
,
L. Larsson
Journal:
Neuromuscular Disorders
Year:
2006
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english
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134
P.P.5 05 A novel missense mutation in TPM2 associated with muscle weakness and distal arthrogryposis
H. Tajsharghi
,
E. Kimber
,
M. Tulinius
,
A. Oldfors
Journal:
Neuromuscular Disorders
Year:
2006
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english
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135
P.P.5 06 A mutation in the fast skeletal muscle Troponin I gene causes myopathy and distal arthrogryposis
E. Kimber
,
H. Tajsharghi
,
A.-K. Kroksmark
,
A. Oldfors
,
M. Tulinius
Journal:
Neuromuscular Disorders
Year:
2006
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english
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136
P.P.5 07 Congenital myopathy with internal myonuclei and perinuclear aggregates: Reducing body myopathy without cytoplasmic bodies?
B. Maiti
,
S.S. Chin
,
K.M. Flanigan
Journal:
Neuromuscular Disorders
Year:
2006
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english
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137
P.P.5 08 A novel MTM1 mutation in a very old manifesting carrier of myotubular myopathy
I. Pénisson-Besnier
,
V. Biancalana
,
P. Reynier
,
F. Dubas
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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138
P.P.5 09 A new combined phenotype of congenital myopathy, hypohydrotic ectodermal dysplasia and immunodeficiency in two brothers
J. Kirschner
,
U. Osmers
,
A. Rao
,
S. Ehl
,
S. Feske
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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139
P.P.5 11 Autosomal dominant congenital fibre type disproportion. Study of a family
A. Nucci
,
C.A. Chagas
,
A.V. Faria
,
E.M.B. Pacheco
,
L.S. Queiroz
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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140
G.P.5 01 Inflammatory muscle disease in dogs is associated with Leishmania infantum
O. Paciello
,
G. Oliva
,
L. Gradoni
,
L. Manna
,
S. Papparella
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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141
G.P.5 02 MRL/MpJ wound-healing phenotype increases the myofiber size in mdx mouse skeletal muscle
Y. Ohsawa
,
H. Hagiwara
,
N. Naoe
,
Y. Kuroda
,
T. Kawase
,
T. Murakami
,
Y. Sunada
Journal:
Neuromuscular Disorders
Year:
2006
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english
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142
G.P.5 03 Laser microdissection-based expression analysis of key muscle regeneration genes in degenerative–regenerative groups of mdx mice
M. Marotta
,
Y. Sarria
,
C. Ruiz
,
M. Roig-Quilis
Journal:
Neuromuscular Disorders
Year:
2006
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english
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143
G.P.5 04 T2 relaxation time mapping and diffusion weighted imaging (DWI) changes of exercised and non-exercised mdx and wild type mice
J. Collins
,
B. Wong
,
J. Quinlan
,
A. McCullough
,
B. Dardzinski
Journal:
Neuromuscular Disorders
Year:
2006
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english
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144
G.P.5 05 Skeletal muscle involvement in neuraminidase deficient mice
E. Zanoteli
,
G. Yogalingam
,
H. Hu
,
E. Bonten
,
A. d’Azzo
Journal:
Neuromuscular Disorders
Year:
2006
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english
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145
G.P.5 06 Dislocated neuronal nitric oxide synthase results in muscle atrophy during tail suspension
N. Suzuki
,
N. Motohashi
,
A. Uezumi
,
S. Fukada
,
Y. Miyagoe-Suzuki
,
T. Yoshimura
,
Y. Itoyama
,
M. Aoki
,
S. Takeda
Journal:
Neuromuscular Disorders
Year:
2006
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english
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146
G.P.5 07 Changes in fiber-type composition of re-innervated rat soleus muscle regenerating from notexin-induced necrosis
L. Mendler
,
S. Pintér
,
M. Kiricsi
,
L. Dux
Journal:
Neuromuscular Disorders
Year:
2006
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english
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147
G.P.5 08 Dystrophin-dependent muscle degeneration requires a fully functional contractile machinery to occur in Caenorhabditis elegans
M.C. Mariol
,
L. Ségalat
Journal:
Neuromuscular Disorders
Year:
2006
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english
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148
P.P.6 01 Exploring the pathogenesis of tibial muscular dystrophy/LGMD2J: Interactions of M-line titin
J. Sarparanta
,
A. Vihola
,
G. Blanco
,
I. Richard
,
P. Hackman
,
B. Udd
Journal:
Neuromuscular Disorders
Year:
2006
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english
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149
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies
A. Palladino
,
V.M. Ventriglia
,
L. Passamano
,
S. Aurino
,
R. Russo
,
F. d’Amico
,
V.R. Petretta
,
G. Piluso
,
L.I. Comi
,
V. Nigro
,
G. Nigro
,
L. Politano
Journal:
Neuromuscular Disorders
Year:
2006
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english
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150
P.P.6 03 Incidence of 550delA in the CAPN3 gene in German patients with limb-girdle muscular dystrophy and hyperCKemia
F. Hanisch
,
D. Grimm
,
L. Xue
,
C. Müller-Reible
,
S. Zierz
,
M. Deschauer
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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151
P.P.6 04 The clinical and molecular characterisation of calpain deficiency in patients with neuromuscular disorders
V. Tay
,
M. Chiotis
,
K. Reardon
,
H. Lo
,
K.N. North
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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152
P.P.6 05 CAPN3 mutations in patients with idiopathic eosinophilic myositis
M. Krahn
,
A. Lopez de Munain
,
N. Streichenberger
,
R. Bernard
,
C. Pécheux
,
H. Testard
,
J.L. Pena-Segura
,
N.R. Romero
,
S. Bouillot-Eimer
,
X. Ferrer
,
M. Goicoechea
,
F. Garcia-Bragado
,
F. Leturcq
,
J.A. Ur
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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153
P.P.6 06 Clinical and paraclinical characterization of pseudometabolic dystrophies
C.M. Vincitorio
,
P. Laforêt
,
A. Leroy-Willig
,
P.G. Carlier
,
J.Y. Hogrel
,
M. Chaussain
,
R. Cotrufo
,
B. Eymard
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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154
P.P.6 07 Symptomatic dysferlin gene mutation carriers: characterization of two cases
R. Dominguez-Perles
,
E. Gallardo
,
N. de Luna
,
R. Rojas-Garcia
,
C. Paradas
,
J. Palmer
,
C. Marquez
,
I. Illa
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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155
P.P.6 08 Clinical features of the limb-girdle muscular dystrophy type 2B
T. Takahashi
,
M. Aoki
,
H. Aiba
,
H. Sato
,
E. Abe
,
M. Ito
,
Y. Onodera
,
N. Suzuki
,
M. Tateyama
,
H. Konno
,
H. Onodera
,
Y. Itoyama
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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156
P.P.6 09 Damage-induced dysferlin translocation in C2C12 myotubes requires the full length protein
L. Klinge
,
S.H. Laval
,
V. Straub
,
K. Bushby
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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157
P.P.6 10 Sarcoglycanopathy – Can immunoanalyses accurately predict the genotype?
R. Charlton
,
L. Klinge
,
G. Dekomien
,
J.T. Epplen
,
K. Bushby
,
V. Straub
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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158
P.P.6 11 New mutations in the caveolin-3 gene in Italian families with hyperCKemia
A. Ruggeri
,
F. Blasevich
,
E. Mariani
,
F. Cornelio
,
M. Mora
,
L. Morandi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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159
G.P.6 01 Utrophin in the dystrophic muscle: evaluation of the contribution of connective tissue replacement
M. Vainzof
,
L.U. Yamamoto
,
D. Ayub
,
P. Kossugue
,
N.T. Man
,
G.E. Morris
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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160
G.P.6 02 Somatic and germinal mosaicism of an out-of-frame deletion in the dystrophin gene in an adult male patient with predominant dilated cardiomyopathy
Y.H. Hu
,
F. Leturcq
,
D. Héron
,
D. Logéart
,
S. Llense
,
J. Chelly
,
D. Récan
,
N.B. Romero
,
P. Lafôret
,
B. Eymard
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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161
G.P.6 03 NT-proBNP is not associated with dilated cardiomyopathy in Becker and Duchenne muscular dystrophies
S.M. Schade van Westrum
,
L. Dekker
,
E. Endert
,
R.J. de Haan
,
A.A.M. Wilde
,
M. de Visser
,
A.J. van der Kooi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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162
G.P.6 04 Autoantibodies to myocardium are elevated at high rate in patients with muscular dystrophy
T. Matsumura
,
T. Yoshio
,
T. Okazaki
,
T. Saito
,
H. Fujimura
,
S. Shinno
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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163
G.P.6 05 Revising the cardiac phenotype of Duchenne muscular dystrophy
L.W. Markham
,
A. Barone
,
K. Kinnett
,
R. Spicer
,
B. Wong
,
D.W. Benson
,
L. Cripe
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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164
G.P.6 07 An overview of mutations reported in the Leiden DMD mutation database that appear not to follow the reading frame rule
A. Aartsma-Rus
,
J.C.T. van Deutekom
,
I.F. Fokkema
,
J.T. den Dunnen
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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165
G.P.6 08 Mechanisms for dystrophin expression in BMD patients with premature stop codons and frameshift mutations in DMD exon 1
O.L. Gurvich
,
G. Aggarwal
,
C.B. Anderson
,
K. Hart
,
R.B. Weiss
,
M.T. Howard
,
K.M. Flanigan
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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166
G.P.6 09 Normal distribution of Ins(1,4,5)P3 receptors is disrupted in Duchenne muscular dystrophy
J.A. Bevilacqua
,
C. Cardenas
,
R. Figueroa
,
A.L. Taratuto
,
J. Molgó
,
E. Jaimovich
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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167
G.P.6 10 Impaired platelet adhesion on collagen surfaces and secretion defect in Duchenne muscular dystrophy patients
V. Labarque
,
N. Goemans
,
K. Freson
,
M.F. Hoylaerts
,
C. Van Geet
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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168
G.P.7 01 Whole-body muscular MRI in early-onset muscle diseases
P. Cuvelier
,
S. Quijano-Roy
,
S. Chaabane
,
A. Ferreiro
,
D. Fisher
,
D. Orlikowski
,
N. Pellegrini
,
M. Hamida
,
N.B. Romero
,
P. Guicheney
,
P. Richard
,
B. Estournet
,
R.Y. Carlier
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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169
G.P.7 02 Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation
C. Rodolico
,
O. Musumeci
,
A. Toscano
,
A. Mazzeo
,
C. Pastura
,
D. Maimone
,
G. Vita
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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170
G.P.7 03 A new scale to measure activity limitations in children and adults with neuromuscular disorders
L. Vandervelde
,
P.Y.K. Van den Bergh
,
N. Goemans
,
J.L. Thonnard
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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171
G.P.7 04 Development of neurogenic and myogenic conditions in critical illness neuromuscular disorders: follow-up histopathological study
Z. Lukáš
,
J. Maňák
,
J. Bednařík
,
M. Schreiber
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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172
G.P.7 05 Reliable and controllable antibody fragment selections from Camelid non-immune libraries
P. Verheesen
,
A. Roussis
,
Y. Huang
,
H. de Haard
,
A. de Groot
,
J.C. Stam
,
J.T. den Dunnen
,
R.R. Frants
,
A. Verkleij
,
C.T. Verrips
,
S.M. van der Maarel
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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173
G.P.7 06 AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance
F. Hanisch
,
J.R. Pushpa
,
S. Zierz
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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174
G.P.7 07 Epidemiology of neuromuscular disorders in Portugal at pediatric age
M.A. Santos
,
I. Fineza
,
T. Moreno
,
P. Cabral
,
J.C. Ferreira
,
R.L. Silva
,
J.P. Vieira
,
A. Moreira
,
A. Dias
,
E. Calado
,
J.P. Monteiro
,
M.J. Fonseca
,
C. Moço
,
F. Furtado
,
M. Campos
,
R. Gomes
,
C. Barbosa
,
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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175
T.P.2 01 Longer-term (>3 months) IVIG treatment to optimize clinical benefit and cellular protection usually requires an individualized adjustable schedule – not fixed regimentation
W.K. Engel
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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176
T.P.2 02 The mitotic clock in skeletal muscle: Immortalization of human myoblasts and consequences for studying muscle disease
G.S. Butler-Browne
,
K. Mamchaoui
,
R.N. Cooper
,
W.E. Wright
,
V. Mouly
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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177
T.P.2 03 Myogenic potential of human stem cells
E. Negroni
,
I. Riederer
,
V. Mouly
,
Y. Torrente
,
J. Di Santo
,
G.S. Butler-Browne
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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178
T.P.2 04 Analyses of early cell death after human myoblast injection into RAG−/−gammaC−/− mice
I. Riederer
,
E. Negroni
,
M. Bencze
,
J. Di Santo
,
W. Savino
,
V. Mouly
,
S.D. Silva-Barbosa
,
G.S. Butler-Browne
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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179
T.P.2 05 The therapeutic effect of myostatin-blockade on muscular dystrophic mice and gene expression analysis of the treated muscles
S. Noguchi
,
M. Fujita
,
T. Sasaoka
,
I. Nishino
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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180
T.P.2 07 Correlation between MMPs and TIMPs expression and C2C12 myogenic cell migration and fusion in vitro and in vivo
J. Morgan
,
P. Bausero
,
J. Gross
,
M. Fiszman
,
H. Alameddine
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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181
T.P.2 08 Calcium influx triggers calpain- and proteasome-mediated proteolytic activity in cultured muscle cells
A. Briguet
,
I. Courdier-Fruh
,
M. Erb
,
C. Lescop
,
H. Siendt
,
T. Meier
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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182
T.P.2 09 Overcoming the transcription defect in Friedreich ataxia with designed DNA ligands
M. Raï
,
J. Gottesfeld
,
P. Dervan
,
M. Pandolfo
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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183
T.P.2 10 The effects of prednisone on exercised-induced muscle damage in mdx mice
J. Collins
,
B. Wong
,
A. McCullough
,
J. Quinlan
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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184
G.P.8 01 Development of the multiplex ligation-dependent probe amplification (MLPA) method for the detection of large deletions in the nebulin gene
V.L. Lehtokari
,
K. Pelin
,
E. Nuutinen
,
C. Wallgren-Pettersson
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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185
G.P.8 02 Identification of exonic splicing enhancers in the nebulin gene
S. Ranta
,
K. Pelin
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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186
G.P.8 03 Cap disease – a variant of nemaline myopathy
M. Ohlsson
,
H. Tajsharghi
,
C. Lindberg
,
A. Oldfors
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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187
G.P.8 04 TPM3 (Arg167His) autosomal dominant nemaline myopathy: variable clinical and histopathological phenotypes
I. Pénisson-Besnier
,
N. Monnier
,
A. Toutain
,
P. Corcia
,
N. Laing
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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188
G.P.8 05 Explorations on the molecular basis of desminopathy
H. Bär
,
S. Sharma
,
H. Herrmann
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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189
G.P.8 06 Very early onset myopathy with structural changes in the diaphragm at autopsy consistent with myofibrillar myopathy
M. Rasmussen
,
D. Scheie
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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190
G.P.8 07 Phenotypic variability associated with desmin gene mutations
A. Sarkozy
,
L. Goldfarb
,
R. Charlton
,
M. Eagle
,
P.M. Chinnery
,
V. Straub
,
K. Bushby
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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191
G.P.8 08 Identification of a desmin gene mutation in scapuloperoneal syndrome type Kaeser
M.C. Walter
,
P. Reilich
,
A. Huebner
,
D. Fischer
,
M. Vorgerd
,
C. Born
,
J.R. Frey
,
H.E. Kaeser
,
H. Lochmüller
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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192
G.P.8 09 Tubular aggregates in muscle biopsies. A screening study from the National Neuromuscular Centre of Norway
S. Lindal
,
K. Myreng
,
G.I. Sørensen
,
I. Lund
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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193
G.P.8 10 Myopathy with tubular aggregates: a family report
N. Fahmy
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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194
G.P.8 11 Towards the identification of new morphological subtypes of congenital myopathy
J.A. Bevilacqua
,
M. Bitoun
,
S. Maugenre
,
A. Oldfors
,
B. Eymard
,
P. Laforêt
,
M. Olivé
,
J. Colomer
,
E. Lacène
,
A. Rouche
,
G. Brochier
,
M. Fardeau
,
P. Guicheney
,
N.B. Romero
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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195
G.P.8 12 Centronuclear myopathy: clinical and morphological phenotype/genotype correlations
J.A. Bevilacqua
,
M. Bitoun
,
A. Oldfors
,
F. Lubieniecki
,
S. Monges
,
A.L. Taratuto
,
A. Urtizberea
,
L. Cartier
,
E. Uro-Coste
,
C. Cances
,
M. Fardeau
,
P. Guicheney
,
N.B. Romero
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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196
G.P.9 01 Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with an intracellularly expressed camelid-derived antibody domain
P. Verheesen
,
A. de Kluijver
,
S. van Koningsbruggen
,
H. de Haard
,
G.J. van Ommen
,
C.T. Verrips
,
S.M. van der Maarel
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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197
G.P.9 02 Long expansion and deletion of the polyalanine domain in PABPN1 lead to a modified aggregation pattern
A.F. Klein
,
M. Ebihara
,
M.J. Dicaire
,
A. Abu-Baker
,
G.A. Rouleau
,
B. Brais
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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198
G.P.9 03 Clinical variables to assess phenotype severity in (GCG)9 OPMD cases
C. Alexander
,
A.M. Laberge
,
G.A. Rouleau
,
J. Mathieu
,
J.P. Bouchard
,
B. Brais
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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199
G.P.9 04 Premature senescence of myoblasts in oculopharyngeal muscular dystrophy
B. Bouazza
,
S. Perié
,
K. Mamchaoui
,
V. Mouly
,
J. Lacau St-Guily
,
G. Butler Browne
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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200
G.P.9 05 Histopathological features of Drosophila model of oculopharyngeal muscular dystrophy
B.M. van der Sluijs
,
H. Ter Laak
,
L. Eshuis
,
K. Verrijp
,
A. Chartier
,
M. Simonelig
,
B.G.M. van Engelen
,
M. Lammens
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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201
G.P.9 06 Characterization of the DUX4c gene located within a repeated element close to the FSHD locus
E. Ansseau
,
D. Laoudj-Chenivesse
,
A. Marcowycz
,
S. Sauvage
,
M. Barro
,
A. Tassin
,
C. Mattéotti
,
A. van Acker
,
A. Leroy
,
I. Leclercq
,
O. Leo
,
D. Figlewicz
,
A. Belayew
,
F. Coppée
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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202
G.P.9 07 D4Z4 repeat exchanges between chromosomes 4 and 10 in different Brazilian ethnic groups: implications for FSHD prevalence?
M.M.O. Tonini
,
R.J.L.F. Lemmers
,
P. Arashiro
,
C. van Teijlingen
,
M. Lazar
,
R.R. Frants
,
S.M. van der Maarel
,
M. Zatz
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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203
G.P.9 08 Facioscapulohumeral dystrophy presenting as monomelic amyotrophy with rimmed vacuoles – case report
A. Matos
,
L. Negrão
,
A. Geraldo
,
O. Rebelo
,
C. Bacanhim
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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204
G.P.9 09 The D4Z4 subtelomeric element behaves as a CTCF-dependent insulator and anchors telomeres to the nuclear periphery
A. Ottaviani
,
S. Rival-Gervier
,
A. Förster
,
E. Gilson
,
F. Magdinier
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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205
P.P.7 01 Confocal imaging and electron microscopy analysis to identify secondary collagen VI defects
S. Petrini
,
A. d’Amico
,
P. Sale
,
L. Lucarini
,
P. Sabatelli
,
B. Giusti
,
M. Verardo
,
R. Carrozzo
,
E. Mattioli
,
M. Scarpelli
,
M.L. Chu
,
G. Pepe
,
M.A. Russo
,
E. Bertini
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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206
P.P.7 02 Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutations in Ullrich congenital muscular dystrophy
P. Sabatelli
,
Y. Zou
,
S. Squarzoni
,
C. Bönnemann
,
L. Merlini
,
G. Pepe
,
B. Giusti
,
S. Petrini
,
E. Bertini
,
D. Sudano
,
M.L. Chu
,
N.M. Maraldi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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207
P.P.7 03 Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype
A.K. Lampe
,
D. Hicks
,
J. Hudson
,
S.H. Laval
,
K.M. Flanigan
,
C. Bönnemann
,
R. Charlton
,
V. Straub
,
K.M.D. Bushby
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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208
P.P.7 04 A homozygous COL6A1 splice site mutation in siblings with Ullrich congenital muscular dystrophy
S. Makri
,
V. Allamand
,
P. Richard
,
C. Gartioux
,
N. Terki
,
S. Maugenre
,
M. Ait-Kaci
,
P. Guicheney
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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209
P.P.7 05 Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle
Y. Zou
,
R. Zhang
,
M. Chu
,
C.G. Bönnemann
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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210
P.P.7 06 Pronounced phenotypic variability of heterozygote deletion mutations in collagen VI – Evidence for a UCMD-BM spectrum
Y. Hu
,
Y. Zou
,
S. Quijano-Roy
,
A. Lampe
,
A. Barois
,
G. Tennekoon
,
R.S. Finkel
,
K. Flanigan
,
P. Guicheney
,
M.-L. Chu
,
A. Ferreiro
,
C.G. Bönnemann
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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211
P.P.7 07 Identification and characterization of a novel putative secretory protein highly upregulated in dermal fibroblasts from patients with collagen VI deficiency
A.I. Magold
,
J. Kirschner
,
Y. Zou
,
D. Sudano
,
J. Roma
,
C.G. Bönnemann
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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212
P.P.7 08 Early changes in muscle fiber size and type distribution in congenital muscular dystrophy type Ullrich
J. Schessl
,
A.I. Magold
,
Y. Zou
,
C.G. Bönnemann
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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213
P.P.7 09 Increased level of matrilin-2 gene expression in regenerating skeletal muscle model
E. Korpos
,
M. Kiricsi
,
L. Mendler
,
L. Mátés
,
I. Kiss
,
L. Dux
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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214
P.P.7 10 Quantitative muscle function in Ehlers-Danlos syndrome
N.C. Voermans
,
T.M. Altenburg
,
B.C. Hamel
,
A. de Haan
,
B.G. van Engelen
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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215
P.P.7 11 Recurrent neuropathy associated with Ehlers-Danlos syndrome
N.C. Voermans
,
G. Drost
,
A. van Kampen
,
A.A. Gabreëls-Festen
,
M. Lammens
,
B.C. Hamel
,
J. Schalkwijk
,
B.G. van Engelen
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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216
G.P.10 01 Quantitative ultrasound measurements of bone density DMD and SMA patients
A. Berardinelli
,
K. Gorni
,
L. Pedrotti
,
R. Mora
,
B. Bertani
,
E. Fazzi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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217
G.P.10 02 Bone health in Duchenne muscular dystrophy
B.L. Wong
,
M.Y. Shao
,
M. Hurtubise
,
A. El-Bohy
,
M. Knue
,
P. Morehart
,
J.E. Heubi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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218
G.P.10 03 Functional ability monitoring in Duchenne muscular dystrophy using posture and walking time recording in a home environment
C. Bloetzer
,
B. Najafi
,
K. Aminian
,
P.Y. Jeannet
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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219
G.P.10 04 Is there a relationship between hamstring length and function in ambulant boys with Duchenne muscular dystrophy?
C. Nicholson
,
M. Main
,
E. Mercuri
,
F. Muntoni
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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220
G.P.10 05 Predictive factors for the development of scoliosis in Duchenne muscular dystrophy
M. Kinali
,
R.K. Knight
,
M. Main
,
E. Mercuri
,
S. Messina
,
A.Y. Manzur
,
F. Muntoni
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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221
G.P.10 06 Does deflazacort treatment impact the surgical outcomes for boys with Duchenne muscular dystrophy?
W.D. Biggar
,
V.A. Harris
,
B.A. Alman
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
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222
G.P.10 07 CINRG pilot trial of oxatomide in steroid-naive Duchenne muscular dystrophy
G.M. Buyse
,
D.M. Escolar
,
N. Goemans
,
E. Henricson
,
M. van den Hauwe
,
A. Jara Vallejos
,
C. Shao
,
K.M. Patel
,
R. McCarter
,
R. Leshner
,
J. Florence
,
J. Mayhew
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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223
G.P.10 08 Lower urinary tract symptoms in patients with Duchenne muscular dystrophy
E. van Wijk
,
E.J. Messelink
,
I.J.M. de Groot
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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224
G.P.10 09 Depression and functional evaluation in Duchenne muscular dystrophy according to family functionality
R.E. Escobar
,
A. Miranda
,
M. Alfaro
,
C.K. Rocha
,
F. Calderon
,
E. Espejel
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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225
G.P.10 10 Newborn screening for Duchenne muscular dystrophy. The experience in the province of Antwerp
F. Eyskens
,
E. Philips
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 41 KB
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226
T.I. 1 Protease inhibitors as potential treatment strategy for muscular dystrophies
T. Meier
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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227
T.I. 2 Molecular and cellular therapies for amyotrophic lateral sclerosis
W. Robberecht
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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228
T.I. 3 Treatment of pompe disease
A.T. van der Ploeg
,
M.L.C. Hagemans
,
N. van Beek
,
C. van Capelle
,
P.A. van Doorn
,
A.J. Reuser
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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229
T.O. 1 Antisense-induced exon skipping in Duchenne muscular dystrophy patients
A.A.M. Janson
,
I.H.B. Ginjaar
,
A. Aartsma-Rus
,
G.-J.B. van Ommen
,
A. van der Kooi
,
S. de Kimpe
,
P. Ekhart
,
G. Platenburg
,
J.J.G.M. Verschuuren
,
J.C.T. van Deutekom
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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230
T.O. 2 Rescue of dystrophin in the GRMD dog by multi-exon skipping using engineered U7 snRNAs
A. Vulin
,
A. Goyenvalle
,
I. Barthélémy
,
F. Leturcq
,
J.C. Kaplan
,
J. Chelly
,
O. Danos
,
S. Blot
,
L. Garcia
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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231
T.O. 3 Rescue of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a homozygous mutation in the selenocysteine codon of SEPN1
V. Allamand
,
P. Richard
,
C. Ledeuil
,
D. Chaigne
,
P. Guicheney
,
A. Krol
,
A. Lescure
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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232
T.O. 4 Vascular endothelial growth factor gene transfer using adeno-associated viral vectors stimulates skeletal muscle regeneration and enhances muscle function in mdx mice
S. Messina
,
M. Aguennouz
,
A. Bitto
,
A. Migliorato
,
M. Giacca
,
F. Squadrito
,
G. Vita
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
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233
T.O. 5 Lack of myostatin results in satellite independent muscle fibre hypertrophy and mitochondrial depletion
H. Amthor
,
M. Schuelke
,
A. Otto
,
K. Patel
,
T. Partridge
,
T. Voit
,
P. Zammit
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 46 KB
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english, 2006
234
T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV
C. Vitiello
,
A. Auricchio
,
S. Faraso
,
N. Sorrentino
,
D. Di Napoli
,
S. Castaldo
,
E. Nusco
,
S. Aurino
,
V. Saccone
,
G. Piluso
,
V. Nigro
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 46 KB
Your tags:
english, 2006
235
G.O. 7 Pharmacological chaperones as an alternate treatment for Pompe disease
B.A. Wustman
,
R. Khanna
,
A.C. Powe Jr.
,
R. Dhulipala
,
E. Benjamin
,
C.W. Pine
,
W. Liang
,
K. Mascioli
,
H.-H. Chang
,
M. Toth
,
P. Huertas
,
K. Valenzano
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 59 KB
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english, 2006
236
G.O. 8 Gene therapy trials in the ovine model of McArdle’s disease
J. McC Howell
,
K.R. Walker
,
J. Nalbantoglou
,
N. Laing
,
G. Karpati
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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english, 2006
237
G.O. 9 Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy
K.G. Claeys
,
S. Züchner
,
M. Kennerson
,
K. Verhoeven
,
C. Ceuterick
,
J.J. Martin
,
J. Berciano
,
J.M. Vance
,
G. Nicholson
,
V. Timmerman
,
P. De Jonghe
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 45 KB
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english, 2006
238
G.O. 10 Dynamin 2 mutations and impairment of EGF-induced MAPK activation
M. Bitoun
,
J.A. Bevilacqua
,
B. Prudhon
,
S. Maugenre
,
F. Lubieniecki
,
S. Monges
,
A.L. Taratuto
,
M. Fardeau
,
B. Eymard
,
E. Uro-Coste
,
N.B. Romero
,
P. Guicheney
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 47 KB
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english, 2006
239
Development of polyglucosan inclusions in skeletal muscle
Beth A. Valentine
,
Barry J. Cooper
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 256 KB
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english, 2006
240
Sleep disorders in childhood-onset myotonic dystrophy type 1
Maria-Antonia Quera Salva
,
Marc Blumen
,
Aurelia Jacquette
,
Marie-Christine Durand
,
Sonia Andre
,
Martine De Villiers
,
Bruno Eymard
,
Frédéric Lofaso
,
Delphine Heron
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 338 KB
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english, 2006
241
Severe phenotype in infantile facioscapulohumeral muscular dystrophy
Lars Klinge
,
Michelle Eagle
,
Irene D. Haggerty
,
Catherine E. Roberts
,
Volker Straub
,
Kate M. Bushby
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 134 KB
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english, 2006
242
Reduced necrosis of dystrophic muscle by depletion of host neutrophils, or blocking TNFα function with Etanercept in mdx mice
Stuart Hodgetts
,
Hannah Radley
,
Marilyn Davies
,
Miranda D. Grounds
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 717 KB
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english, 2006
243
Severe fascioscapulohumeral muscular dystrophy presenting with Coats’ disease and mental retardation
Laurence A. Bindoff
,
Nanette Mjellem
,
Kristian Sommerfelt
,
Bård K. Krossnes
,
Fiona Roberts
,
Jørgen Krohn
,
Randi Skarpaas Tranheim
,
Irene D. Haggerty
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 2.86 MB
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english, 2006
244
“So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager”
Michael W. Beresford
,
Morteza Pourfarzam
,
Joyce E. Davidson
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 52 KB
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english, 2006
245
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
Adele D’Amico
,
Claudio Graziano
,
Giuseppe Pacileo
,
Stefania Petrini
,
Kristen J. Nowak
,
Renata Boldrini
,
Adam Jacques
,
Juan-Juan Feng
,
Berardino Porfirio
,
Caroline A. Sewry
,
Filippo M. Santorelli
,
Gius
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 720 KB
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english, 2006
246
Chest infections in young neuromuscular patients: The critical importance of preserving Vital Capacity
Andrea Vianello
,
Barbara Trani
,
Chiara Greggio
,
Alessia Donà
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2006
247
Reply to Vianello et al.
C. Dohna-Schwake
,
T. Voit
,
U. Mellies
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 57 KB
Your tags:
english, 2006
248
WMS11
Journal:
Neuromuscular Disorders
Year:
2006
File:
PDF, 94 KB
Your tags:
2006
249
Welcome to Bruges
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 58 KB
Your tags:
english, 2006
250
11th WMS Congress – 2006 - Programme (Summary)
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 58 KB
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english, 2006
251
Programme of the 11th WMS Congress – 2006
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 532 KB
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english, 2006
252
Table of Location
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 28 KB
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english, 2006
253
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy
R.J.L.F. Lemmers
,
M.J.R. van der Wielen
,
E. Bakker
,
R.R. Frants
,
S.M. van der Maarel
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 70 KB
Your tags:
english, 2006
254
Reply to Lemmers et al.
K. Goto
,
I. Nishino
,
Y.K. Hayashi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 473 KB
Your tags:
english, 2006
255
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
C. Jimenez-Mallebrera
,
M.A. Maioli
,
J. Kim
,
S.C. Brown
,
L. Feng
,
A.K. Lampe
,
K. Bushby
,
D. Hicks
,
K.M. Flanigan
,
C. Bonnemann
,
C.A. Sewry
,
F. Muntoni
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 2.17 MB
Your tags:
english, 2006
256
Workshop on the nuclear envelope and Emery–Dreifuss muscular dystrophy 29th March 2006, Oswestry, UK
K. Natalie Randles
,
Glenn E. Morris
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2006
257
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
William Wallefeld
,
Sabine Krause
,
Kristen J. Nowak
,
Danielle Dye
,
Rita Horváth
,
Zoltán Molnár
,
Miklós Szabó
,
Kazuhiro Hashimoto
,
Cristina Reina
,
Jose De Carlos
,
Jordi Rosell
,
Ana Cabello
,
Carmen Navar
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 558 KB
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english, 2006
258
Editorial Board
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 70 KB
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english, 2006
259
Instructions to Authors
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 52 KB
Your tags:
english, 2006
260
WMS application form
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 67 KB
Your tags:
english, 2006
261
12th International WMS Congress, 17-20 October 2007
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 99 KB
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english, 2006
262
Forthcoming Meetings
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 31 KB
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english, 2006
263
Ramblings Flyer (Colour Image & text)
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 17.51 MB
Your tags:
english, 2006
264
P.P.5 10 A sarcoplasmic body myopathy
B. Hedberg
,
H. Stibler
,
F. Xiang
,
G. Åhlberg
,
M. Engvall
,
T. Ansved
,
L. Edström
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 43 KB
Your tags:
english, 2006
265
G.P.6 06 Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients
R.L. El Sherif
,
N. Fahmy
,
M.A. Etribi
Journal:
Neuromuscular Disorders
Year:
2006
Language:
english
File:
PDF, 57 KB
Your tags:
english, 2006
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