Martin Brockington
Great Ormond Street Hospital(GB)University College London(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Health, Medicine and Society, Hermeneutics and Narrative Identity, Aging, Elder Care, and Social Issues, Mitochondrial Function and Pathology
Most-Cited Works
- → 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(2001)596 cited
- → Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C(2001)493 cited
- → Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan(2007)439 cited
- → Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome(2001)364 cited
- → Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy(2005)249 cited
- → Phenotypic spectrum associated with mutations in the fukutin‐related protein gene(2003)237 cited
- → Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)(2002)213 cited
- → The phenotype of limb-girdle muscular dystrophy type 2I(2003)196 cited
- → Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples(1991)182 cited
- → Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies(2007)175 cited