Alternative Links zum Volltext:DOIVerlag
Dokumentenart: | Artikel |
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Titel eines Journals oder einer Zeitschrift: | Aktuelle Neurologie |
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Verlag: | GEORG THIEME VERLAG KG |
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Ort der Veröffentlichung: | STUTTGART |
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Band: | 30 |
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Nummer des Zeitschriftenheftes oder des Kapitels: | 7 |
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Seitenbereich: | S. 328-334 |
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Datum: | 2003 |
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Institutionen: | Medizin > Lehrstuhl für Neurologie |
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Identifikationsnummer: | Wert | Typ |
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10.1055/s-2003-41886 | DOI |
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Stichwörter / Keywords: | CONGENITAL MUSCULAR-DYSTROPHY; CEREBRAL CORTICAL DEVELOPMENT; SUBCORTICAL BAND HETEROTOPIA; LINKED MENTAL-RETARDATION; WALKER-WARBURG-SYNDROME; ABSENT CORPUS-CALLOSUM; DOUBLE-CORTEX SYNDROME; PERIVENTRICULAR HETEROTOPIA; AMBIGUOUS GENITALIA; MUTATIONS; |
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Dewey-Dezimal-Klassifikation: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin |
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Status: | Veröffentlicht |
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Begutachtet: | Ja, diese Version wurde begutachtet |
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An der Universität Regensburg entstanden: | Ja |
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Dokumenten-ID: | 72076 |
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Zusammenfassung
Lissencephalies are a. clinically and genetically heterogeneous group of cerebral malformations characterized by the lack of cortical organization due to impaired neuronal migration during embryogenesis. Lissencephalies are divided into isolated forms and syndromic forms that are associated with additional cerebral malformations and multi-organ dysfunction. Clinically, epileptic seizures as well ...
Zusammenfassung
Lissencephalies are a. clinically and genetically heterogeneous group of cerebral malformations characterized by the lack of cortical organization due to impaired neuronal migration during embryogenesis. Lissencephalies are divided into isolated forms and syndromic forms that are associated with additional cerebral malformations and multi-organ dysfunction. Clinically, epileptic seizures as well as mental retardation are present in affected patients. Several genes were recently identified to be causally linked to different forms of isolated lissencephalies and systematic mutational analysis may reveal new lissencephally associated genes.