Walker-Warburg congenital muscular dystrophy

Known as: Diseases, POMT1-Related Muscle-Eye-Brain, CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME, Syndromes, HARD 
Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT… (More)
National Institutes of Health

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Highly Cited
2012
Highly Cited
2012
Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain… (More)
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Highly Cited
2012
Highly Cited
2012
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities… (More)
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Highly Cited
2012
Highly Cited
2012
Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal… (More)
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Highly Cited
2007
Highly Cited
2007
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies… (More)
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Highly Cited
2007
Highly Cited
2007
BACKGROUND Outcomes-based education in the health professions has emerged as a priority for curriculum planners striving to align… (More)
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2006
2006
The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in… (More)
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Highly Cited
2005
Highly Cited
2005
BACKGROUND Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy… (More)
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Highly Cited
2000
Highly Cited
2000
OBJECTIVES The purposes of this study were to report the neurodevelopmental, neurosensory, and functional outcomes of 1151… (More)
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Highly Cited
2000
Highly Cited
2000
OBJECTIVE This study was undertaken to determine the prevalence of mental disorders among obstetric-gynecologic patients and to… (More)
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1993
1993
We compared the neuropathological findings in two cases of the Walker-Warburg syndrome (WWS) with those in 6 of Fukuyama-type… (More)
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