1 - 25 of 33 results for author:"Sewry C.A." in Literature citations
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| A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. Sewry C.A., Quinlivan R.C., Squier W., Morris G.E., Holt I. Neuromuscul. Disord. 22:225-230(2012) · Mapped (5) |
| Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Robb S.A., Sewry C.A., Dowling J.J., Feng L., Cullup T., Lillis S., Abbs S., Lees M.M., Laporte J., Manzur A.Y. et al. Neuromuscul. Disord. 21:379-386(2011) · Mapped (3) |
| 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., Muller C.R., Ndondo A., Cloke V., Cullup T. et al. Ann. Neurol. 68:717-726(2010) · Mapped (6) |
| Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development. Randles K.N., Lam l.e. T., Sewry C.A., Puckelwartz M., Furling D., Wehnert M., McNally E.M., Morris G.E. Dev. Dyn. 239:998-1009(2010) · Mapped (54) |
| Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. Nowak K.J., Ravenscroft G., Jackaman C., Filipovska A., Davies S.M., Lim E.M., Squire S.E., Potter A.C., Baker E., Clement S. et al. J. Cell Biol. 185:903-915(2009) · Mapped (10) |
| Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. Holt I., Jacquemin V., Fardaei M., Sewry C.A., Butler-Browne G.S., Furling D., Brook J.D., Morris G.E. Am. J. Pathol. 174:216-227(2009) · Mapped (16) |
| A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Jimenez-Mallebrera C., Torelli S., Feng L., Kim J., Godfrey C., Clement E., Mein R., Abbs S., Brown S.C., Campbell K.P. et al. Brain Pathol. 19:596-611(2009) · Mapped (2) |
| 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. Neurology 71:1757-1763(2008) · Mapped (10) |
| De novo LMNA mutations cause a new form of congenital muscular dystrophy. Quijano-Roy S., Mbieleu B., Bonnemann C.G., Jeannet P.Y., Colomer J., Clarke N.F., Cuisset J.M., Roper H., De Meirleir L., D'Amico A. et al. |
| Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Clement E.M., Godfrey C., Tan J., Brockington M., Torelli S., Feng L., Brown S.C., Jimenez-Mallebrera C., Sewry C.A., Longman C. et al. Arch. Neurol. 65:137-141(2008) · UniProtKB (1) |
| Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Godfrey C., Clement E., Mein R., Brockington M., Smith J., Talim B., Straub V., Robb S., Quinlivan R., Feng L. et al. |
| Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Jungbluth H., Zhou H., Sewry C.A., Robb S., Treves S., Bitoun M., Guicheney P., Buj-Bello A., Bonnemann C., Muntoni F. Neuromuscul. Disord. 17:338-345(2007) · Mapped (6) |
| Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Godfrey C., Escolar D., Brockington M., Clement E.M., Mein R., Jimenez-Mallebrera C., Torelli S., Feng L., Brown S.C., Sewry C.A. et al. Ann. Neurol. 60:603-610(2006) · UniProtKB (1) |
| Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Zhou H., Brockington M., Jungbluth H., Monk D., Stanier P., Sewry C.A., Moore G.E., Muntoni F. Am. J. Hum. Genet. 79:859-868(2006) · Mapped (6) |
| Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. D'Amico A., Graziano C., Pacileo G., Petrini S., Nowak K.J., Boldrini R., Jacques A., Feng J.-J., Porfirio B., Sewry C.A. et al. Neuromuscul. Disord. 16:548-552(2006) · UniProtKB (1) |
| 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. et al. |
| Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Torelli S., Brown S.C., Brockington M., Dolatshad N.F., Jimenez C., Skordis L., Feng L.H., Merlini L., Jones D.H., Romero N. et al. Neuromuscul. Disord. 15:836-843(2005) · Mapped (1) |
| The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking. Tunnah D., Sewry C.A., Vaux D., Schirmer E.C., Morris G.E. J. Mol. Histol. 36:337-344(2005) · Mapped (5) |
| A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours. Sewry C.A., Nowak K.J., Ehmsen J.T., Davies K.E. Neuromuscul. Disord. 15:779-785(2005) · Mapped (11) |
| Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Jungbluth H., Davis M.R., Muller C., Counsell S., Allsop J., Chattopadhyay A., Messina S., Mercuri E., Laing N.G., Sewry C.A. et al. Neuromuscul. Disord. 14:785-790(2004) · Mapped (6) |
| Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Kinali M., Jungbluth H., Eunson L.H., Sewry C.A., Manzur A.Y., Mercuri E., Hanna M.G., Muntoni F. Neuromuscul. Disord. 14:689-693(2004) · Mapped (1) |
| 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. Arch. Dis. Child. 88:1051-1055(2003) · UniProtKB (1) |
| Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Longman C., Brockington M., Torelli S., Jimenez-Mallebrera C., Kennedy C., Khalil N., Feng L., Saran R.K., Voit T., Merlini L. et al. Hum. Mol. Genet. 12:2853-2861(2003) · UniProtKB (1) · Mapped (2) |
| Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Mercuri E., Brockington M., Straub V., Quijano-Roy S., Yuva Y., Herrmann R., Brown S.C., Torelli S., Dubowitz V., Blake D.J. et al. Ann. Neurol. 53:537-542(2003) · UniProtKB (1) |
| Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Jungbluth H., Sewry C.A., Buj-Bello A., Kristiansen M., Orstavik K.H., Kelsey A., Manzur A.Y., Mercuri E., Wallgren-Pettersson C., Muntoni F. Neuromuscul. Disord. 13:55-59(2003) · Mapped (7) |