Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by genetic mutations, but by ischemia and/or inflammation. Here, we describe an autosomal-recessive type of tetraplegic cerebral palsy with mental retardation, reduction of cerebral white matter, and atrophy of the...

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Veröffentlicht in:	American journal of human genetics 2009-07, Vol.85 (1), p.40-52
Hauptverfasser:	Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Protein Complex 4 - genetics Adaptor Protein Complex mu Subunits - genetics Biological and medical sciences Brain Brain - pathology Cell Line Cells, Cultured Cerebral palsy Cerebral Palsy - genetics Cerebral Palsy - pathology Cerebral Palsy - physiopathology Female Fibroblasts - pathology Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genes Genes, Recessive Genetics Genetics of eukaryotes. Biological and molecular evolution Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Male Medical genetics Medical sciences Molecular and cellular biology Mutation Nervous system (semeiology, syndromes) Neurology Neurons Pedigree Proteins Quadriplegia - genetics Quadriplegia - physiopathology T cell receptors Young Adult
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