Search Results - "Sewry, C A"

Myopathology in congenital myopathies by Sewry, C. A., Wallgren‐Pettersson, C.

“…Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle…”
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RYR1 mutations are a common cause of congenital myopathies with central nuclei by 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.

“…Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated…”
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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease by 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

“…Homoplasmic maternally inherited, m.14674T>C or m. 14674T>G mt-tRNA(Glu) mutations have recently been identified in reversible infantile cytochrome c oxidase…”
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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins by 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.

“…Individuals with the same genetic disorder often show remarkable differences in clinical severity, a finding generally attributed to the genetic background. We…”
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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene by JUNGBLUTH, H, ZHOU, H, SWASH, M, FERREIRO, A, BYDDER, G, SEWRY, C. A, MÜLLER, C, MUNTONI, F, HARTLEY, L, HALLIGER-KELLER, B, MESSINA, S, LONGMAN, C, BROCKINGTON, M, ROBB, S. A, STRAUB, V, VOIT, T

“…Minicore myopathy (multi-minicore disease [MmD]) is a congenital myopathy characterized by multifocal areas with loss of oxidative activity on muscle biopsy…”
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NEMALINE MYOPATHY WITH STIFFNESS AND HYPERTONIA ASSOCIATED WITH AN ACTA1 MUTATION by JAIN, R. K, JAYAWANT, S, RAVENSCROFT, G, NOWAK, K. J, MEMO, M, MARSTON, S. B, LAING, N. G, SQUIER, W, MUNTONI, F, SEWRY, C. A, MANZUR, A, QUINLIVAN, R, LILLIS, S, JUNGBLUTH, H, SPARROW, J. C

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom by 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

“…Abstract The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features…”
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RYR1 -related congenital myopathy with fatigable weakness, responding to pyridostigimine by 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

“…Highlights • We report two siblings with RYR1 -related myopathy, mimicking congenital myasthenia. • In this sibship, fatiguability responded dramatically to…”
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A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy by 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

“…Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor neurons during early or postnatal development. Severity…”
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Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement by 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

“…Abstract Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the “core myopathies”) have been mainly associated with mutations in the skeletal muscle…”
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Congenital muscular dystrophy: molecular and cellular aspects by Jimenez-Mallebrera, C, Brown, S C, Sewry, C A, Muntoni, F

“…The congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular disorders. Each form has a characteristic phenotype,…”
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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores by JUNGBLUTH, H, MÜLLER, C. R, LAING, N. G, DAVIS, M. R, ROPER, H. P, DUBOWITZ, V, BYDDER, G, SEWRY, C. A, MUNTONI, F, HALLIGER-KELLER, B, BROCKINGTON, M, BROWN, S. C, FENG, L, CHATTOPADHYAY, A, MERCURI, E, MANZUR, A. Y, FERREIRO, A

“…Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three…”
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The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein by Manilal, S., Man, Nguyen thi, Sewry, C. A., Morris, G. E.

“…A large fragment of emerin cDNA was prepared by PCR and expressed as a recombinant protein in Escherichia coli. Using this as immunogen, we prepared a panel of…”
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Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study by MERCURI, E, YUVA, Y, BROWN, S. C, BROCKINGTON, M, KINALI, M, JUNGBLUTH, H, FENG, L, SEWRY, C. A, MUNTONI, F

“…Ullrich congenital muscular dystrophy (UCMD) is a form of merosin-positive congenital muscular dystrophy characterized by proximal contractures, distal laxity,…”
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Central core disease: clinical, pathological, and genetic features by Quinlivan, R M, Muller, C R, Davis, M, Laing, N G, Evans, G A, Dwyer, J, Dove, J, Roberts, A P, Sewry, C A

“…Central core disease (CCD) is a dominantly inherited congenital myopathy allelic to malignant hyperthermia (MH) caused by mutations in the RYR1 gene on…”
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Flow cytometry analysis: A quantitative method for collagen VI deficiency screening by Kim, J, Jimenez-Mallebrera, C, Foley, A.R, Fernandez-Fuente, M, Brown, S.C, Torelli, S, Feng, L, Sewry, C.A, Muntoni, F

“…Abstract Mutations in COL6A1 , COL6A2 and COL6A3 genes result in collagen VI myopathies: Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM)…”
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Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations by Sewry, C. A., Brown, S. C., Mercuri, E., Bonne, G., Feng, L., Camici, G., Morris, G. E., Muntoni, F.

“…We present our observations on the skeletal muscle pathology of nine cases from seven families of autosomal dominant Emery‐Dreifuss muscular dystrophy (ADEDMD)…”
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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 by Torelli, S., Brown, S. C., Jimenez-Mallebrera, C., Feng, L., Muntoni, F., Sewry, C. A.

“…Immunohistochemistry using antibodies to dystrophin is the pathological basis for the diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD). While…”
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Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies by Sewry, C.A., Feng, L., Chambers, D., Matthews, E., Phadke, R.

“…•Embryonic myosin heavy chains are down-regulated by or soon after birth in human quadriceps muscle.•Fetal myosin heavy chains are down-regulated by 4–6 months…”
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Distribution of Emerin and Lamins in the Heart and Implications for Emery-Dreifuss Muscular Dystrophy by Manilal, S., Sewry, C. A., Pereboev, A., thi Man, Nguyen, Gobbi, P., Hawkes, S., Love, D. R., Morris, G. E.

“…Emerin is a nuclear membrane protein which is missing or defective in Emery-Dreifuss muscular dystrophy (EDMD). It is one member of a family of…”
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