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- POMT2, a key enzyme in Walker-Warburg-Syndrome: somatic sPOMT2 but...
The most severe of these autosomal recessive conditions is Walker-Warburg-Syndrome (WWS) with severe brain and ocular involvement. - Severe muscle-eye-brain disease is associated with a homozygous
A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker-Warburg syndrome. - POMT1 and POMT2 mutations in CMD patients: A multicentric Italian...
Mutations in POMT1 and POMT2 genes were originally identified in Walker-Warburg syndrome (WWS) and subsequently reported in patients with milder - Developmental defects in a zebrafish model for muscular dystrophies...
Fukuyama type congenital muscular dystrophy (FCMD), Muscle-Eye-Brain disease (MEB) and Walker–Warburg syndrome (WWS), which are associated... - Synaptic defects in a Drosophila model of congenital muscular...
...for the glycosylation of alpha-dystroglycan, and mutations in the POMT1 gene can lead to both Walker-Warburg syndrome (WWS) and limb girdle... - Two new patients bearing mutations in the fukutin gene confirm the
...patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker–Warburg syndrome.Clin Genet 2008: 73: 139–145... - Novel synonymous substitution in POMGNT1 promotes exon skipping in a...
Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy type 1C, and... - Differential activation of mononuclear phagocytes in cerebellar...
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. Neuropathology. - 83 - eponyms in medicine - (501to1000)
518 - Terson’s syndrome is intra-vitreous hemorrhage associated with subarachnoid hemorrhage.