S. Robb

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

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ACUTE DISSEMINATED ENCEPHALOMYELITIS

Jürg Kesselring, David H. Miller, S. Robb et al. · Brain · 1990 · 393 citations

Medicine, Neurology, Neuroscience +15

Uniparental paternal disomy in Angelman's syndrome

S Malcolm, Jill Clayton‐Smith, M. Nichols et al. · The Lancet · 1991 · 330 citations

Life Sciences, Genetics, Cytogenetics +6

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Kinji Ohno, Akira Tsujino, Joan M. Brengman et al. · Proceedings of the National Academy of Sciences · 2001 · 265 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

Valeria Ricotti, Deborah Ridout, E. Scott et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 260 citations

Medicine, Endocrinology, Musculoskeletal Rehabilitation +13