Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Nature Genetics

Volumn 45, Issue 6, 2013, Pages 639-647

  Poirier, Karine ^a   Lebrun, Nicolas ^a   Broix, Loic ^a   Tian, Guoling ^b   Saillour, Yoann ^a   Boscheron, Cécile ^c   Parrini, Elena ^d,e   Valence, Stephanie ^a   Pierre, Benjamin Saint ^a   Oger, Madison ^a   Lacombe, Didier ^f   Geneviève, David ^g   Fontana, Elena ^h   Darra, Franscesca ^h   Cances, Claude ⁱ   Barth, Magalie ^j,k   Bonneau, Dominique ^j,k   Bernadina, Bernardo Dalla ^h   N'Guyen, Sylvie ^l   Gitiaux, Cyril ^a,m   Parent, Philippe ⁿ   Des Portes, Vincent ^o   Pedespan, Jean Michel ^p   Legrez, Victoire ^q   Castelnau Ptakine, Laetitia ^a   Nitschke, Patrick ^r   Hieu, Thierry ^r   Masson, Cecile ^r   Zelenika, Diana ^s   Andrieux, Annie ^c   Francis, Fiona ^t,u   Guerrini, Renzo ^d,e   Cowan, Nicholas J ^b   Bahi Buisson, Nadia ^a,m   Chelly, Jamel ^a   more..

^a INSTITUT COCHIN   (France)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^c GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^d UNIVERSITY OF FLORENCE   (Italy)

^e DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g UNIV MONTPELLIER   (France)

^h UNIVERSITY HOSPITAL OF VERONA   (Italy)

ⁱ TOULOUSE UNIVERSITY HOSPITAL   (France)

^j UNIVERSITÉ D'ANGERS   (France)

^k ANGERS UNIVERSITY HOSPITAL   (France)

^l NANTES UNIVERSITY HOSPITAL   (France)

^m HÔPITAL NECKER ENFANTS MALADES   (France)

ⁿ Service de Pédiatrie et de Génétique Médicale   (France)

^o UNIVERSITÉ LYON 1   (France)

^p HÔPITAL PELLEGRIN   (France)

^q BICÊTRE HOSPITAL   (France)

^r UNIVERSITÉ PARIS DESCARTES   (France)

^s CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^t INSTITUT DU FER À MOULIN   (France)

^u SORBONNE UNIVERSITÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DYNC1H1 PROTEIN; GAMMA TUBULIN; KIF2A PROTEIN; KIF5C PROTEIN; PROTEIN; TUBG1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL MIGRATION; CLINICAL ARTICLE; CORTICAL DYSPLASIA; GENE EXPRESSION; HUMAN; HYDROLYSIS; IN VIVO STUDY; MICROCEPHALY; MICROTUBULE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FOLDING; SACCHAROMYCES CEREVISIAE;

ANIMALS; CELL MOVEMENT; CERCOPITHECUS AETHIOPS; COS CELLS; CYTOPLASMIC DYNEINS; EXOME; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HUMANS; KINESIN; LISSENCEPHALY; MAGNETIC RESONANCE IMAGING; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICE; MICROCEPHALY; MODELS, MOLECULAR; MUTATION, MISSENSE; NEUROIMAGING; PEDIGREE; SEQUENCE ANALYSIS, DNA; TUBULIN;

SACCHAROMYCES CEREVISIAE;

EID: 84878717611     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2613     Document Type: Article

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