Martin Brockington

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini et al. · The American Journal of Human Genetics · 2001 · 596 citations · Full text

Mendelian Disorder, Abnormal Glycosylation, Medicine +10

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

Martin Brockington · Human Molecular Genetics · 2001 · 493 citations · Full text

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 433 citations · Full text

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard et al. · Nature Genetics · 2001 · 364 citations

Rare Diseases, Developmental Biology, Mendelian Disorder +9

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek, Michael J. B. Krieger, Claudia Stendel et al. · Nature Genetics · 2005 · 248 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +5