Myopathology in congenital myopathies
Sewry, C. A., Wallgren‐Pettersson, C.
Published in Neuropathology and applied neurobiology (01.02.2017)
Published in Neuropathology and applied neurobiology (01.02.2017)
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RYR1 mutations are a common cause of congenital myopathies with central nuclei
Wilmshurst, J.M., Lillis, S., Zhou, H., Pillay, K., Henderson, H., Kress, W., Müller, C.R., Ndondo, A., Cloke, V., Cullup, T., Bertini, E., Boennemann, C., Straub, V., Quinlivan, R., Dowling, J.J., Al- Sarraj, S., Treves, S., Abbs, S., Manzur, A.Y., Sewry, C.A., Muntoni, F., Jungbluth, H.
Published in Annals of neurology (01.11.2010)
Published in Annals of neurology (01.11.2010)
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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
Uusimaa, J, Jungbluth, H, Fratter, C, Crisponi, G, Feng, L, Zeviani, M, Hughes, I, Treacy, E P, Birks, J, Brown, G K, Sewry, C A, McDermott, M, Muntoni, F, Poulton, J
Published in Journal of medical genetics (01.10.2011)
Published in Journal of medical genetics (01.10.2011)
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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
Muntoni, F., Bonne, G., Goldfarb, L. G., Mercuri, E., Piercy, R. J., Burke, M., Yaou, R. Ben, Richard, P., Récan, D., Shatunov, A., Sewry, C. A., Brown, S. C.
Published in Brain (London, England : 1878) (01.05.2006)
Published in Brain (London, England : 1878) (01.05.2006)
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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
Jungbluth, H, Zhou, H, Hartley, L, Halliger-Keller, B, Messina, S, Longman, C, Brockington, M, Robb, S A, Straub, V, Voit, T, Swash, M, Ferreiro, A, Bydder, G, Sewry, C A, Müller, C, Muntoni, F
Published in Neurology (27.12.2005)
Published in Neurology (27.12.2005)
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Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
Jain, R K, Jayawant, S, Squier, W, Muntoni, F, Sewry, C A, Manzur, A, Quinlivan, R, Lillis, S, Jungbluth, H, Sparrow, J C, Ravenscroft, G, Nowak, K J, Memo, M, Marston, S B, Laing, N G
Published in Neurology (03.04.2012)
Published in Neurology (03.04.2012)
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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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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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A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy
Nguyen thi Man, Humphrey, E, Lam, L T, Fuller, H R, Lynch, T A, Sewry, C A, Goodwin, P R, Mackenzie, A E, Morris, G E
Published in Neurology (25.11.2008)
Published in Neurology (25.11.2008)
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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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Congenital muscular dystrophy: molecular and cellular aspects
Jimenez-Mallebrera, C, Brown, S C, Sewry, C A, Muntoni, F
Published in Cellular and molecular life sciences : CMLS (01.04.2005)
Published in Cellular and molecular life sciences : CMLS (01.04.2005)
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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
Jungbluth, H, Müller, C R, Halliger-Keller, B, Brockington, M, Brown, S C, Feng, L, Chattopadhyay, A, Mercuri, E, Manzur, A Y, Ferreiro, A, Laing, N G, Davis, M R, Roper, H P, Dubowitz, V, Bydder, G, Sewry, C A, Muntoni, F
Published in Neurology (23.07.2002)
Published in Neurology (23.07.2002)
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The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein
Manilal, S., Man, Nguyen thi, Sewry, C. A., Morris, G. E.
Published in Human molecular genetics (01.06.1996)
Published in Human molecular genetics (01.06.1996)
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Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study
Mercuri, E, Yuva, Y, Brown, S C, Brockington, M, Kinali, M, Jungbluth, H, Feng, L, Sewry, C A, Muntoni, F
Published in Neurology (14.05.2002)
Published in Neurology (14.05.2002)
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Central core disease: clinical, pathological, and genetic features
Quinlivan, R M, Muller, C R, Davis, M, Laing, N G, Evans, G A, Dwyer, J, Dove, J, Roberts, A P, Sewry, C A
Published in Archives of disease in childhood (01.12.2003)
Published in Archives of disease in childhood (01.12.2003)
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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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Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
Sewry, C. A., Brown, S. C., Mercuri, E., Bonne, G., Feng, L., Camici, G., Morris, G. E., Muntoni, F.
Published in Neuropathology and applied neurobiology (01.08.2001)
Published in Neuropathology and applied neurobiology (01.08.2001)
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Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions
Torelli, S., Brown, S. C., Jimenez-Mallebrera, C., Feng, L., Muntoni, F., Sewry, C. A.
Published in Neuropathology and applied neurobiology (01.10.2004)
Published in Neuropathology and applied neurobiology (01.10.2004)
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Distribution of Emerin and Lamins in the Heart and Implications for Emery-Dreifuss Muscular Dystrophy
Manilal, S., Sewry, C. A., Pereboev, A., thi Man, Nguyen, Gobbi, P., Hawkes, S., Love, D. R., Morris, G. E.
Published in Human molecular genetics (01.02.1999)
Published in Human molecular genetics (01.02.1999)
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