TUBB4A de novo mutations cause isolated hypomyelination

Neurology

Volumn 83, Issue 10, 2014, Pages 898-902

  Pizzino, Amy ^a   Pierson, Tyler Mark ^b   Guo, Yiran ^c   Helman, Guy ^a   Fortini, Sebastian ^d   Guerrero, Kether ^e   Saitta, Sulagna ^b,j   Murphy, Jennifer Louise Patrick ^a   Padiath, Quasar ^f   Xie, Yi ^g,h   Hakonarson, Hakon ^c,i   Xu, Xun ^g,h   Funari, Tara ^b   Fox, Michelle ^j   Taft, Ryan J ^k   Van Der Knaap, Marjo S ^l   Bernard, Geneviève ^e   Schiffmann, Raphael ^m   Simons, Cas ^k   Vanderver, Adeline ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^e MONTREAL CHILDREN S HOSPITAL   (Canada)

^f UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^g BGI Shenzhen   (China)

^h BGI SHENZHEN   (China)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k UNIVERSITY OF QUEENSLAND   (Australia)

^l VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^m BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BASAL GANGLION; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE; GENE MUTATION; HUMAN; HYPOMYELINATING LEUKODYSTROPHY; LEUKODYSTROPHY; MALE; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TUBB4A GENE; ATROPHY; CEREBELLUM; DEMYELINATING DISEASE; GENETICS; MUTATION; PATHOLOGY; REGISTER;

TUBB4A PROTEIN, HUMAN; TUBULIN;

ADOLESCENT; ATROPHY; BASAL GANGLIA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; REGISTRIES; TUBULIN;

EID: 84922260233     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000754     Document Type: Article

References (10)

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