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Editorial Board
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| Oral presentations |
| Tuesday 29th March 2011 |
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Article Title |
Author(s) |
Pages |
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O01 Preventing transmission of mitochondrial disease
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P.M. Turnbull
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S1
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O02 Developing therapies for human mitochondrial diseases
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M. Murphy
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S1
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O03 Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease
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M.R. Duchen,
K. Heath,
N.B. Baruch,
M.G. Hanna,
F. Muntoni
et al.
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S1-S2
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O04 New molecular targets in hereditary neuropathies
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V. Timmerman
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S2
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O05 Clinical trials in peripheral neuropathies – where have we got?
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R. Hughes
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S2
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O06 Contribution of animal models to the pathogenesis and treatment of inherited neuropathies
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M.W. Sereda
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S2-S3
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O07 Neuregulin-1 is required for axoglial signalling following peripheral nerve injury to ensure normal re-myelination and functional recovery
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F.R. Flicker,
J. Brelstaff,
N. Zhu,
A.N. Garratt,
C. Birchmeier,
D.L.H. Bennett
et al.
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S3
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O08 Characterisation of novel mutations within heat shock protein 27 causing motor axonopathies
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A. Innes,
B. Kalmar,
H. Houlden,
M.M. Reilly,
L. Greensmith
et al.
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S3
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O09 The Second Morgan-Hughes-Thomas Lecture: The genetics of motor neuron disease: from molecules to medicines
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R.H. Brown
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S3-S4
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| Wednesday 30th March 2011 |
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O10 Quantitative magnetic resonance imaging of neuromuscular diseases in adults
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J.S. Thornton
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S4
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O11 Quantitative MRI in FSHD and DMD
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H. Kan
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S4
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O12 Assessing muscle pathology by MRI in LGMD2I
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T. Willis,
K.G. Hollingsworth,
M.-L. Sveen,
J.M. Morrow,
C.D.J. Sinclair,
J.S. Thornton,
J. Vandenheede,
T. Strojkovic,
M. Eagle,
A. Mayhew,
K. Bushby,
H. Lochmüller,
M.G. Hanna,
J. Vissing,
P. Carlier,
V. Straub
et al.
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S4-S5
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O13 Skeletal muscle MRI-determined fat fraction and myometric strength in inclusion body myositis and Charcot-Marie-Tooth disease Type 1A
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C.D.J. Sinclair,
J.M. Morrow,
A. Fischmann,
M.G. Hanna,
M.M. Reilly,
T.A. Yousry,
X. Golay,
J.S. Thornton
et al.
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S5
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O14 Magnetic resonance imaging in the non-dystrophic myotonias
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J.M. Morrow,
E. Matthews,
D.L. Raja Rayan,
I. Amer,
A. Fischmann,
C.D.J. Sinclair,
J.S. Thornton,
M.M. Reilly,
T.A. Yousry,
M.G. Hanna
et al.
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S5
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O15 Outcome measures in the mdx mouse
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P. Wells
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S5
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O16 Mouse models of SMA: implications for the timing and delivery of therapy
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K. Talbot
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S5-S6
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O17 Novel insight in muscle and brain involvement in dystroglycanopathies
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M.R. Ackroyd,
C. Whitmore,
M. Nikolic,
U. Mayer,
F. Muntoni,
S.C. Brown
et al.
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S6
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O18 A new mouse model of ALS carrying a point mutation in the mouse Sod1 gene
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P. Joyce,
P. Fratta,
V. Phatak,
P. McGoldrick,
L. Greensmith,
E.M.C. Fisher,
A. Acevedo-Arozena
et al.
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S6
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| Posters |
| Duchenne Muscular Dystrophy – Molecular Therapy |
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Article Title |
Author(s) |
Pages |
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P01 Quantification of exon skipping in Duchenne muscular dystrophy by qRT-PCR
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K. Anthony,
J.E. Morgan,
F. Muntoni
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S7
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P02 Human skeletal-muscle derived CD133+ cells as a promising tool for cell therapy of Duchenne muscular dystrophy
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R. Asfahani,
J. Meng,
F. Muntoni,
J.E. Morgan
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S7
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P03 Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment
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S. Cirak,
V. Arechavala-Gomeza,
M. Guglieri,
L. Feng,
S. Torelli,
K. Anthony,
M.E. Garralda,
D. Wells,
G. Dickson,
M.J.A. Wood,
S.D. Wilton,
V. Straub,
S.B. Shrewsbury,
C. Sewry,
J.E. Morgan,
K. Bushby,
F. Muntoni
et al.
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S7-S8
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P04 Correction of FKRP function via RNA trans-splicing
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S. Farmer,
S. Lorain,
A. Thrasher,
L. Garcia,
F. Muntoni,
F. Conti
et al.
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S8
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P05 Utrophin upregulation in DMD therapy: current status and new tools for the future
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R.J. Fairclough,
D. Powell,
S. Squire,
A. Potter,
A. Bareja,
A.J. Russell,
S.G. Davies,
K.E. Davies
et al.
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S8
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P06 AAV-U7snRNA mediated multi exon-skipping for Duchenne muscular dystrophy
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A. Goyenvalle,
A. Babbs,
J. Wright,
L. Garcia,
K.E. Davies
et al.
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S8
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P07 The feasibility of exon skipping to restore the reading frame in DMD patients with duplications
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J. Kim,
K. Anthony,
V. Cloke,
M. Yau,
S. Abbs,
J.E. Morgan,
F. Muntoni
et al.
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S8-S9
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P08 Optimal dystrophin mini-construct for gene delivery to skeletal muscle
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M. Reza,
S. Laval,
J.E. Morgan,
F. Muntoni,
K. Bushby,
V. Straub,
H. Lochmüller
et al.
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S9
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P09 Patient-specific viral rescue therapies for Duchenne muscular dystrophy
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M. Ritso,
E. Dick,
M. Reza,
S. Laval,
V. Straub,
C. Denning,
H. Lochmüller
et al.
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S9
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P10 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy
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I. Zaharieva,
S. Cirak,
J.E. Morgan,
F. Muntoni
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S9
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| Animal Models of Neuromuscular Disease |
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P11 A reduction in the expression of Fukutin-related protein leads to the altered deposition of multiple laminin alpha chains in a mouse model for Muscle Eye Brain disease
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M.R. Ackroyd,
C. Whitmore,
U. Mayer,
S.C. Brown
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S9-S10
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P12 Generation of a new mouse model for therapeutic testing in the dystroglycanopathies
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C. Whitmore,
M.R. Ackroyd,
A. Ashraf,
F. Muntoni,
S.C. Brown
et al.
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S10
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P13 Investigating pathophysiology and therapeutic strategies in a mouse model of spinal and bulbar muscular atrophy (SBMA)
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A. Gray,
B. Malik,
K. Montague,
J. Dick,
M.G. Hanna,
L. Greensmith
et al.
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S10
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P14 In vivo myocardial calcium influx is increased in the delta sarcoglycan deficient mouse model of muscular dystrophy cardiomyopathy. Role of the L-type calcium channel
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E. Greally,
B.J. Davison,
A. Blain,
S.H. Laval,
A.M. Blamire,
V. Straub,
G. MacGowan
et al.
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S10
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P15 Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies
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Y.-Y. Lin,
R.J. White,
S. Torelli,
S. Cirak,
F. Muntoni,
D.L. Stemple
et al.
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S11
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P16 Investigating novel mutant mouse models of motor neuron disease
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P. McGoldrick,
J. Dick,
T. Ricketts,
P. Joyce,
P. Fratta,
A. Acevedo-Arozena,
E.M.C. Fisher,
L. Greensmith
et al.
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S11
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P17 Deposition of the inner limiting membrane in the eye of a mouse model for Muscle Eye Brain disease
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C. Whitmore,
M.R. Ackroyd,
A. Ashraf,
S.C. Brown
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S11
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P18 Transient mouse models for the preclinical evaluation of therapeutic dystrophin exon skipping strategies
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S.D. Wilton,
A. Adams,
C. Adkin,
K. Greer,
R. Johnsen,
S. Fletcher
et al.
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S11
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P19 Generating stable FKRP mutant zebrafish lines with zinc finger nucleases
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A.J. Wood,
C.D. Jepson,
S.H. Laval,
K. Bushby,
H. Lochmüller,
R. Barresi,
J. Müller,
V. Straub
et al.
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S11-S12
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| Muscle Satellite Cells |
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Article Title |
Author(s) |
Pages |
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P20 The host muscle environment has got a profound effect on satellite cell function
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L. Boldrin,
P.S. Zammit,
F. Muntoni,
J.E. Morgan
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S12
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P21 ErbB3 binding protein-1 (Ebp1) contributes to the control of proliferation and differentiation in adult muscle satellite cells
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N. Figeac,
P.S. Zammit
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S12
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P22 Age and sex related differences in satellite cell number, proliferation and self renewal
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A. Neal,
L. Boldrin,
J.E. Morgan
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S12
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| Muscle Channelopathies and Myasthenia Gravis |
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Article Title |
Author(s) |
Pages |
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P23 Fluorescent receptors to light up the neuromuscular junction
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J. Cossins,
R. Webster,
S. Maxwell,
A. Vincent,
D. Beeson
et al.
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S12-S13
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P24 Genetic heterogeneity and mechanisms of phenotypic variability in human skeletal muscle channelopathies – a new S4 mutation not associated with HypoPP
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S. Durran,
E. Matthews,
D.L. Raja Rayan,
R. Sud,
J. Polke,
A. Haworth,
J.L. Holton,
M.G. Sweeney,
M.G. Hanna
et al.
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S13
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P25 Double-blind, placebo-controlled, parallel group, phase III study comparing dichlorphenamide vs. placebo for the treatment of periodic paralysis (HYP HOP trial)
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J. Burge,
A. Horga,
R.C. Griggs,
M.G. Hanna
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S13
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P26 Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates
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J. Müller,
J. Senderek,
M. Dusl,
V. Guergueltcheva,
S. Laval,
K. Bushby,
V. Straub,
D. Beeson,
A. Abicht,
H. Lochmüller
et al.
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S13-S14
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P27 Genotype-phenotype correlation and longitudinal three year natural history study in the non-dystrophic myotonias in the UK
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D.L. Raja Rayan,
E. Matthews,
S. Rajakulendran,
G. Barreto,
S.V. Tan,
L. Dewar,
J. Burge,
R.C. Griggs,
R. Barohn,
M.G. Hanna
et al.
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S14
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P28 Assessing the efficacy of Mexiletine in UK patients with non-dystrophic myotonia
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D.L. Raja Rayan,
E. Matthews,
G. Barreto,
S.V. Tan,
L. Dewar,
J. Burge,
R. Barohn,
M.G. Hanna,
on behalf of the CINCH group
et al.
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S14
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P29 Genotype-phenotype correlation and longitudinal study of Andersen-Tawil Syndrome in the UK
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D.L. Raja Rayan,
S. Rajakulendran,
G. Barreto,
S.V. Tan,
L. Dewar,
R.C. Griggs,
M.G. Hanna,
on behalf of the CINCH group
et al.
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S14
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P30 Large scale chloride channel gene DNA rearrangements are an important cause of recessive myotonia congenitaimplications for diagnostic screening
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D.L. Raja Rayan,
A. Haworth,
R. Sud,
J. Burge,
S. Portaro,
A. Toscano,
M.G. Hanna
et al.
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S14-S15
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P31 Synaptic mechanisms in P/Q deficient neuromuscular junctions
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J.E. Spillane,
M.G. Hanna,
D.M. Kullmann
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S15
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P32 Myasthenic crisis in the intensive care unit – a ten year review
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J.E. Spillane,
N.P. Hirsch,
D.M. Kullmann,
U. Reddy,
C. Taylor,
R. Howard
et al.
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S15
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P33 Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
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R. Webster,
J. Cossins,
D. Lashley,
S. Maxwell,
D. Beeson
et al.
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S15
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| Peripheral Nerve Disease |
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Article Title |
Author(s) |
Pages |
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P34 Clinical phenotype and novel mutations in Alsin related motorneuron disease
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S. Cirak,
A. Ölmez,
H. Karasoy,
B. Bakouche,
M. Heise,
F. Muntoni,
J. Winkler,
H. Topaloglu,
G. Uyanik
et al.
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S15-S16
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P35 Microfluidic chambers provide a novel method to study the functional properties of sensory neuron terminals in culture
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A. Clark,
M. Koltzenburg
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S16
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P36 TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy
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K. Fawcett,
S.M. Murphy,
J. Polke,
M.M. Reilly,
H. Houlden
et al.
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S16
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P37 Phenotype in E410K beta-tubulin isotype 3 mutations: striking facial weakness and other extraocular manifestations in addition to CFEOM
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N.J. Gutowski,
E. Young,
M. Sabah,
A. Fryer,
S. Ellard
et al.
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S16-S17
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P38 Charcot-Marie-Tooth disease and related disorders: a natural history study
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M. Laurá,
S.M. Murphy,
A. Rossor,
A. Hiscock,
M. Main,
M.E. Shy,
F. Muntoni,
M.M. Reilly
et al.
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S17
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P39 Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease
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Y.-T. Liu,
S.M. Murphy,
H. Houlden,
M.M. Reilly
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S17
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P40 A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance
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S. Aharoni,
G. Harlalka,
A. Offiah,
A. Shuper,
A.H. Crosby,
M. McEntagart
et al.
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S17
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P41 Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN)
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S.M. Murphy,
G.L. Davidson,
M. Laurá,
M. Salih,
F. Muntoni,
M. Lunn,
J. Blake,
S. Brandner,
J. Polke,
M. Davies,
H. Houlden,
M.M. Reilly
et al.
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S17-S18
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