Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Brain

Volumn 136, Issue 2, 2013, Pages 536-548

  Cushion, Thomas D ^a   Dobyns, William B ^b   Mullins, Jonathan G L ^a   Stoodley, Neil ^c   Chung, Seo Kyung ^a   Fry, Andrew E ^d   Hehr, Ute ^e   Gunny, Roxana ^f   Aylsworth, Arthur S ^g   Prabhakar, Prab ^f   Uyanik, Gökhan ^h   Rankin, Julia ⁱ   Rees, Mark I ^a,d   Pilz, Daniela T ^d  

^a SWANSEA UNIVERSITY   (United Kingdom)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c FRENCHAY HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^e UNIVERSITY OF REGENSBURG   (Germany)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

ⁱ ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

corpus callosum; lissencephaly; neuronal migration; polymicrogyria; tubulinopathy

Indexed keywords

ALPHA TUBULIN; BETA TUBULIN; TUBULIN ALPHA 1A; TUBULIN BETA 2B; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGYRIA; ARTICLE; BASAL GANGLION; BRAIN MALFORMATION; CAPSULA INTERNA; CHILD; CLINICAL ARTICLE; CONFORMATIONAL TRANSITION; CORTICAL DYSPLASIA; FEMALE; GANGLION; GENE SEQUENCE; GENETIC VARIABILITY; GRAY MATTER; HUMAN; MALE; MICROGYRIA; MICROTUBULE; MISSENSE MUTATION; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD;

EID: 84874342214     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws338     Document Type: Article

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