The wide spectrum of tubulinopathies: What are the key features for the diagnosis?

Brain

Volumn 137, Issue 6, 2014, Pages 1676-1700

  Bahi Buisson, Nadia ^a,b,c,d   Poirier, Karine ^a   Fourniol, Franck ^e   Saillour, Yoann ^a   Valence, Stéphanie ^a   Lebrun, Nicolas ^a   Hully, Marie ^d   Bianco, Catherine Fallet ^f   Boddaert, Nathalie ^d,g   Elie, Caroline ^d   Lascelles, Karine ^h   Souville, Isabelle ⁱ   Beldjord, Cherif ⁱ   Chelly, Jamel ^a  

^a INSTITUT COCHIN   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSERM   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e London Research Institute   (United Kingdom)

^f UNIVERSITY OF MONTREAL   (Canada)

^g DIF   (France)

^h ST THOMAS HOSPITAL   (United Kingdom)

ⁱ université Paris Cité   (France)

Author keywords

lissencephaly; microcephaly; microlissencephaly; pachygyria; polymicrogyria; tubulin

Indexed keywords

MEMBRANE PROTEIN; TUBULIN; TUBULIN A1A; TUBULIN A8; TUBULIN B2B; TUBULIN B3; TUBULIN B5; TUBULIN G1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGYRIA; ARTICLE; BASAL GANGLION; CEREBELLUM HYPOPLASIA; CHILD; CORPUS CALLOSUM AGENESIS; CORTICAL DYSPLASIA; DYSPLASIA; FEMALE; GENE MUTATION; HUMAN; MACROGYRIA; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; METABOLIC DISORDER; MICROGYRIA; MICROLISSENCEPHALY; NEUROIMAGING; PATHOPHYSIOLOGY; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN EXPRESSION; TUBULINOPATHY;

LISSENCEPHALY; MICROCEPHALY; MICROLISSENCEPHALY; PACHYGYRIA; POLYMICROGYRIA; TUBULIN;

ADOLESCENT; ADULT; AGENESIS OF CORPUS CALLOSUM; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; LISSENCEPHALY; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICROCEPHALY; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; TUBULIN; YOUNG ADULT;

EID: 84901472048     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu082     Document Type: Article

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