Results of an open label feasibility study of sodium valproate in people with McArdle disease

Authors: Scalco, Renata S., Stemmerik, Mads, Løkken, Nicoline, Vissing, Christoffer R., Madsen, Karen L., Michalak, Zuzanna, Pattni, Jatin, Godfrey, Richard, Samandouras, George, Bassett, Paul, Holton, Janice L., Krag, Thomas, Haller, Ronald G., Sewry, C., Wigley, Ralph, Vissing, John, Quinlivan, Ros

Source: In Neuromuscular Disorders September 2020 30(9):734-741

Investigating sodium valproate as a treatment for McArdle disease in sheep

Authors: Howell, J.McC. ^*, Dunton, E., Creed, K.E., Quinlivan, R., Sewry, C.

Source: In Neuromuscular Disorders February 2015 25(2):111-119

Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008

Authors: Hilton-Jones, D., Miller, A., Parton, M., Holton, J., Sewry, C., Hanna, M.G.

Source: In Neuromuscular Disorders 2010 20(2):142-147

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

Authors: Kinali, M., Beeson, D., Pitt, M.C., Jungbluth, H., Simonds, A.K., Aloysius, A., Cockerill, H., Davis, T., Palace, J., Manzur, A.Y., Jimenez-Mallebrera, C., Sewry, C., Muntoni, F., Robb, S.A.

Source: In Journal of Neuroimmunology 2008 201:6-12

Myopathology in congenital myopathies.

Authors: Sewry, C. A.^1,2, Wallgren-Pettersson, C.³

Source: Neuropathology & Applied Neurobiology. Feb2017, Vol. 43 Issue 1, p5-23. 19p.

Subject Terms: *MUSCLE diseases, *AGE of onset, *PHENOTYPES, *HUMAN genetic variation, *MUSCLE hypotonia

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

Authors: Bertini, E. ^∗, Biancalana, V., Bolino, A., Buj Bello, A., Clague, M., Guicheney, P., Jungbluth, H., Kress, W., Musaro', A., Nandurkar, H., Pirola, L., Romero, N., Senderek, J., Suter, U., Sewry, C., Tronchere, H., Wallgren-Pettersson, C., Wishart, M.J., Laporte, J.

Source: In Neuromuscular Disorders 2004 14(6):387-396

X-inactivation patterns in carriers of X-linked myotubular myopathy

Authors: Kristiansen, M ^∗, Knudsen, G.P, Tanner, S.M, McEntagart, M, Jungbluth, H, Muntoni, F, Sewry, C, Gallati, S, Ørstavik, K.H, Wallgren-Pettersson, C

Source: In Neuromuscular Disorders 2003 13(6):468-471

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Authors: Davis, M.R, Haan, E, Jungbluth, H, Sewry, C, North, K, Muntoni, F, Kuntzer, T, Lamont, P, Bankier, A, Tomlinson, P, Sánchez, A, Walsh, P, Nagarajan, L, Oley, C, Colley, A, Gedeon, A, Quinlivan, R, Dixon, J, James, D, Müller, C.R, Laing, N.G

Source: In Neuromuscular Disorders 2003 13(2):151-157

Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency

Authors: Deodato, F, Sabatelli, M, Ricci, E, Mercuri, E, Muntoni, F, Sewry, C, Naom, I, Tonali, P, Guzzetta, F

Source: In Neuromuscular Disorders 2002 12(4):392-398

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.35 Cross-Sectional phenotypic and genotypic analysis of a large cohort of patients with nemaline myopathies

Authors: Perry, L., Phadke, R., Mein, R., Clinch, Y., Robb, S., Munot, P., Feng, L., Sewry, C., Manzur, A., Quinlivan, R., Scoto, M., Baranello, G., Muntoni, F., Sarkozy, A.

Source: In Neuromuscular Disorders October 2021 31 Supplement 1:S60-S60

Minicore myopathy in children: a clinical and histopathological study of 19 cases

Authors: Jungbluth, H ^*, Sewry, C, Brown, S.C, Manzur, A.Y, Mercuri, E, Bushby, K, Rowe, P, Johnson, M.A, Hughes, I, Kelsey, A, Dubowitz, V, Muntoni, F

Source: In Neuromuscular Disorders 2000 10(4):264-273

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Authors: Sewry, C. A.^1,2,3, Brown, S. C.², Mercuri, E.², Bonne, G.³, Feng, L.², Camici, G.², Morris, G. E.⁴, Muntoni, F.²

Source: Neuropathology & Applied Neurobiology. Aug2001, Vol. 27 Issue 4, p281-290. 10p. 22 Black and White Photographs, 1 Chart.

Subject Terms: *MUSCULAR dystrophy, *STRIATED muscle physiology, *IMMUNOCYTOCHEMISTRY

Increased Calcium In Dystrophic Muscle

Authors: Maunder-Sewry, C. A., Dubowitz, V., Emery, Alan, Burt, D.

Source: The British Medical Journal, 1980 May 01. 280(6223), 1147-1147.

Access URL: https://www.jstor.org/stable/25439780

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

Authors: Philpot, J ^a, Cowan, F ^b, Pennock, J ^b, Sewry, C ^a, Dubowitz, V ^a, Bydder, G ^b, Muntoni, F ^{a, *}

Source: In Neuromuscular Disorders 1999 9(2):81-85

CONGENITAL MUSCULAR DYSTROPHIES: P.198 TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

Authors: Munot, P., McCrea, N., Torelli, S., Manzur, A., Sewry, C., Chambers, D., Feng, L., Ala, P., Zaharieva, I., Ragge, N., Roper, H., Marton, T., Cox, P., Milev, M., Sacher, M., Liang, W., Maruyama, S., Nishino, I., Phadke, R., Muntoni, F.

Source: In Neuromuscular Disorders October 2020 30 Supplement 1:S105-S105

Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy.

Authors: Sewry, C. A., Philpot, J., Sorokin, L. M.

Source: Lancet; March 2 1996, Vol. 347, p582-584, 3p

Immunolocalization of complement component C9 on necrotic and non-necrotic muscle fibres in myositis using monoclonal antibodies: a primary role of complement in autoimmune cell damage.

Authors: Morgan, B. P.¹, Sewry, C. A.², Siddle, K.³, Luzio, J. P.³, Campbell, A. K.¹

Source: Immunology. May84, Vol. 52 Issue 1, p181-188. 8p.

Subject Terms: *MONOCLONAL antibodies, *LEUKOCYTES, *MYOSITIS, *MUSCLE diseases, *AUTOIMMUNE diseases, *IMMUNOGLOBULINS

P.387A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1

Authors: Beck, M., Aguti, S., Ala, P., Richard-Loendt, A., Chambers, D., Scaglioni, D., Ardicli, D., Feng, L., Mein, R., Zhou, H., Sewry, C., Sarkozy, A., Torelli, S., Muntoni, F., Phadke, R.

Source: In Neuromuscular Disorders October 2019 29 Supplement 1:S194-S194

P.333LAMA2-related congenital muscular dystrophy: clinical course in a large paediatric cohort

Authors: Zambon, A., Main, M., Mein, R., Phadke, R., Sewry, C., Feng, L., Munot, P., Manzur, A., Quinlivan, R., Robb, S., Sarkozy, A., Muntoni, F.

Source: In Neuromuscular Disorders October 2019 29 Supplement 1:S164-S164

P.254The clinical and genetic spectrum of a UK cohort of paediatric and adult patients with MYH7 gene related skeletal myopathies

Authors: Pula, S., Brennan, K., Bertoli, M., Quinlivan, R., Manzur, A., Robb, S., Mein, R., Munot, P., Main, M., Feng, L., Barresi, R., Polvikoski, T., Sewry, C., Phadke, R., Straub, V., Muntoni, F., Sarkozy, A.

Source: In Neuromuscular Disorders October 2019 29 Supplement 1:S141-S141