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Muscular dystrophies due to glycosylation defects
Muntoni F, Torelli S, Brockington M
Neurotherapeutics, 2008, 5, 4, p. 627-632
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
Clement EM, Godfrey C, Tan J, et al.
Archives of neurology, 2008, 65, 1, p. 137-141
LARGE overexpression in transgenic mice : implications for therapeutic interventions in muscular dystrophy (Poster)
Collectif, Brockington M, Torelli S, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 737
Muscular dystrophies due to defective glycosylation of dystroglycan
Muntoni F, Brockington M, Godfrey C, et al.
Acta myologica, 2007, XXVI, 3, p. 129-135
Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Godfrey C, Clement E, Mein R, et al.
Brain, 2007, 130, 10, p. 2725-2735
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Zhou H, Jungbluth H, Sewry CA, et al.
Brain, 2007, 130, 8, p. 2024-2036
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
Zhou H, Brockington M, Jungbluth H, et al.
American journal of human genetics (The), 2006, 79, 5, p. 859-868
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
Godfrey C, Escolar D, Brockington M, et al.
Annals of neurology, 2006, 60, 5, p. 603-610
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
Mercuri E, Topaloglu H, Brockington M, et al.
Archives of neurology, 2006, 63, p. 251-257
The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies
Brockington M, Muntoni F
Acta myologica, 2005, XXIV, 3, p. 217-221
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3
Sellick GS, Longman C, Brockington M, et al.
Human genetics, 2005, 117, 2-3, p. 207-212
Localization and functional analysis of the LARGE family of glycosyltransferases : significance for muscular dystrophy
Brockington M, Torelli S, Prandini P, et al.
Human molecular genetics, 2005, 14, 5, p. 657-665
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
van Reeuwijk J, Janssen M, van den Elzen C, et al.
Journal of medical genetics, 2005, 42, 12, p. 907-912
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
Senderek J, Krieger M, Stendel C, et al.
Nature genetics, 2005, 37, 12, p. 1312-1314
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
Jungbluth H, Zhou H, Hartley C, et al.
Neurology, 2005, 65, 12, p. 1930-1935
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
Torelli S, Brown SC, Brockington M, et al.
Neuromuscular disorders : NMD, 2005, 15, 12, p. 836-843
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers
Vainzof M, Richard P, Herrmann R, et al.
Neuromuscular disorders : NMD, 2005, 15, 9-10, p 588
Glycosylation eases muscular dystrophy
Muntoni F, Brockington M, Brown SC
Nature medicine, 2004, 10, 7, p. 676-677
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
Brown SC, Torelli S, Brockington M, et al.
American journal of pathology (The), 2004, 164, 2, p. 727-737
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease
Longman C, Mercuri E, Cowan F, et al.
Archives of neurology, 2004, 61, 8, p. 1301-1306
Defective glycosylation in congenital muscular dystrophies
Muntoni F, Brockington M, Torelli S, et al.
Current opinion in neurology, 2004, 17, p. 205-209
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
Voit T, Longman C, Steinbrecher A, et al.
Journal of medical genetics, 2004, 41, 5, e61 (), 5 p.
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity
Mercuri E, Lampe A, Straub V, et al.
Neuropediatrics, 2004, 35, 4, p. 224-229
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry
Brockington M, Brown SC, Lampe A, et al.
Prenatal diagnosis, 2004, 24, 6, p. 440-444
114th ENMC International Workshop on congenital muscular dystrophy (CMD) (8th Workshop of the International Consortium on CMD ; 3rd Workshop of the MYO-CLUSTER project GENRE)
Collectif, Valero de Bernabe B, Bittner R, et al.
Neuromuscular disorders : NMD, 2003, 13, 7-8, p. 579-588
