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walker-warburg syndrome - pathology (34) 34
laminin (33) 33
dna mutational analysis (32) 32
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Neurobiology of Disease, ISSN 0969-9961, 2015, Volume 86, pp. 75 - 85
Journal Article
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 21, pp. 2177 - 2182
OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial... 
ALPHA-DYSTROGLYCAN | CELLS | DISEASE | MUSCULAR-DYSTROPHIES | MUSCLE | MUTATIONS | CLINICAL NEUROLOGY | Dystroglycans - deficiency | Frameshift Mutation | Humans | Arabs - genetics | Dystroglycans - genetics | Female | Infant | Consanguinity | Walker-Warburg Syndrome - genetics | Israel | Infant, Newborn | Walker-Warburg Syndrome - pathology | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 468 - 474
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial... 
NEURONAL MIGRATION | DYSTROGLYCANOPATHIES | POPULATION | GENES | GENETICS & HEREDITY | LAMINATION | CORTICAL DEVELOPMENT | RADIAL GLIA | DYSTROPHIES | EXPRESSION | DEFICIENCY | Neurons - pathology | Sequence Deletion | Neuroglia - pathology | Humans | Cerebral Cortex - pathology | Male | Walker-Warburg Syndrome - genetics | Brain - abnormalities | Muscular Dystrophies - genetics | Basement Membrane - pathology | Encephalocele - metabolism | Cerebral Cortex - metabolism | Brain - metabolism | Nervous System Malformations - metabolism | Walker-Warburg Syndrome - metabolism | Female | Neurons - metabolism | Nervous System Malformations - genetics | Encephalocele - genetics | Walker-Warburg Syndrome - pathology | Genetic Predisposition to Disease | Muscular Dystrophies - metabolism | Nervous System Malformations - pathology | Cerebellum - metabolism | Muscular Dystrophies - pathology | Basement Membrane - metabolism | Cerebellum - pathology | Laminin - genetics | Homozygote | Encephalocele - pathology | Brain - pathology | Neuroglia - metabolism | Brain | Gene mutations | Neurons | Neuroglia | Abnormalities | Physiological aspects | Causes of | Genetic aspects | Research | Medical colleges | Neurosciences | Genetic disorders | Laminin | Medical genetics | Genetic research | Eye diseases | Mutation | Muscular dystrophy | Cells | Brain diseases | Index Medicus | Report
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 127 - 131
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 04/2015, Volume 290, Issue 16, pp. 10256 - 10273
Journal Article
neurogenetics, ISSN 1364-6745, 11/2013, Volume 14, Issue 3, pp. 205 - 213
Journal Article
Journal Article