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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
Your tags:
english, 2012
2
Editorial Board
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 55 KB
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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
Your tags:
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
Your tags:
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
Your tags:
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
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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
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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
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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
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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
Your tags:
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
Your tags:
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
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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
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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
Your tags:
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
Your tags:
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
Your tags:
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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:
PDF, 50 KB
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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
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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
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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
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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
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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
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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
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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
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english
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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
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english
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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
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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
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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
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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
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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
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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
File:
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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:
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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
File:
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70
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
File:
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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:
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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:
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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:
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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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75
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:
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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:
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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
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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:
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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:
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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:
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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:
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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
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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
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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:
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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:
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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
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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
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english, 2012
108
Author index
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 93 KB
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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
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english, 2012
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