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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Muscular Dystrophies
Academic Article Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
Academic Article POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Academic Article Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Academic Article Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Congenital muscular dystrophies: clinical review and proposed classification.
Academic Article Cobblestone lissencephaly with normal eyes and muscle.
Academic Article Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Academic Article A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article Diagnostic criteria for Walker-Warburg syndrome.
Academic Article Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
Academic Article Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Academic Article Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
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  • Muscular Dystrophies