Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Maggi, L, Scoto, M, Cirak, S, Robb, S.A, Klein, A, Lillis, S, Cullup, T, Feng, L, Manzur, A.Y, Sewry, C.A, Abbs, S, Jungbluth, H, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2013)
Published in Neuromuscular disorders : NMD (01.03.2013)
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Journal Article
RYR1 -related congenital myopathy with fatigable weakness, responding to pyridostigimine
Illingworth, M.A, Main, M, Pitt, M, Feng, L, Sewry, C.A, Gunny, R, Vorstman, E, Beeson, D, Manzur, A, Muntoni, F, Robb, S.A
Published in Neuromuscular disorders : NMD (01.08.2014)
Published in Neuromuscular disorders : NMD (01.08.2014)
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Journal Article
CACNA1S related congenital myopathy with periodic paralysis and goodresponse to acetazolamide
Munot, P, Zaharieva, I, Feng, L, Phadke, R, Sewry, C.A, Matthews, E, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
G.P.27
Le, L.T, Nguyen, T.M, Sewry, C.A, Morris, G.E
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
Cullup, T, Lamont, P.J, Cirak, S, Damian, M.S, Wallefeld, W, Gooding, R, Tan, S.V, Sheehan, J, Muntoni, F, Abbs, S, Sewry, C.A, Dubowitz, V, Laing, N.G, Jungbluth, H
Published in Neuromuscular disorders : NMD (01.12.2012)
Published in Neuromuscular disorders : NMD (01.12.2012)
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Journal Article
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene ( ACTA1 )
Sewry, C.A, Holton, J.L, Dick, D.J, Muntoni, F, Hanna, M.G
Published in Neuromuscular disorders : NMD (01.05.2015)
Published in Neuromuscular disorders : NMD (01.05.2015)
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Journal Article
Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008
Clement, E.M, Feng, L, Mein, R, Sewry, C.A, Robb, S.A, Manzur, A.Y, Mercuri, E, Godfrey, C, Cullup, T, Abbs, S, Muntoni, F
Published in Neuromuscular disorders : NMD (01.06.2012)
Published in Neuromuscular disorders : NMD (01.06.2012)
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Journal Article
A semi-automated image processing method for quantify dystrophin coverage at the sarcolemma membrane of each individual muscle fibre
Sardone, V, Jones, A, Ellis, M, Torelli, S, Feng, L, Chambers, D, Phadke, R, Sewry, C.A, Morgan, J.E, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
G.P.147
Holt, I, Nguyen, T.D, Le, L.T, Zhang, Q, Sewry, C.A, Shanahan, C.M, Morris, G.E
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
Kim, J, Jimenez-Mallebrera, C, Foley, A.R, Fernandez-Fuente, M, Brown, S.C, Torelli, S, Feng, L, Sewry, C.A, Muntoni, F
Published in Neuromuscular disorders : NMD (01.02.2012)
Published in Neuromuscular disorders : NMD (01.02.2012)
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Journal Article
P.10.16 The presence of developmental and fetal/neonatal myosin in neonatal human muscle
Feng, L, Scoto, M, Chambers, D, Phadke, R, Muntoni, F, Sewry, C.A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
G.P.273
Ravenscroft, G, Todd, E.J, Yau, K.S, Sewry, C.A, McLean, C.A, Ryan, M.M, Allcock, R.J, Laing, N.G
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.261
Zaharieva, I.T, Colombo, I, Sframeli, M, Sigurðsson, J.H, Feng, L, Phadke, R, Sewry, C.A, Morgan, J.E, Muntoni, F
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia
Zaharieva, I, Sarkozy, A, Manzur, A, Munot, P, O’Grady, G, Rendu, J, Amthor, H, Servais, L, Malfatti, E, Dixon, J, Poke, G, Donkervoort, S, Foley, A.R, Neto, O.L.A, Davis, M.R, Urtizberea, J.A, Bastaki, L, Romero, N.B, Oates, E.C, Holmes, C, Williams, G, Sframeli, M, Yum, S, Medne, L, Roy, S.Q, Fauré, J, Feng, L, Morgan, J.E, Bönnemann, C.G, Phadke, R, Sewry, C.A, Treves, S, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
P17 Whole exome sequencing in patients with congenital myopathies
Zaharieva, I, Colombo, I, Sframeli, M, Sigurdsson, J.H, Feng, L, Phadke, R, Sewry, C.A, Morgan, J.E, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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Journal Article
P78 Getting to the core of the matter: cores as a common muscle pathology finding in the collagen VI-related myopathies
Foley, A.R, Phadke, R, Feng, L, Sewry, C.A, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
P.10.20 Recent and future additions to the MDA Monoclonal Antibody Resource for Neuromuscular Disorders
Le Thanh Lam, L, Holt, I, Humphrey, E, Sewry, C.A, Nguyen thi Man, M, Morris, G.E
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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