Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

European Journal of Paediatric Neurology

Volumn 17, Issue 4, 2013, Pages 361-365

  Zanni, Ginevra ^a   Colafati, Giovanna S ^a   Barresi, Sabina ^a   Randisi, Francesco ^a   Talamanca, Lorenzo Figà ^a   Genovese, Elisabetta ^a   Bellacchio, Emanuele ^a   Bartuli, Andrea ^a   Bernardi, Bruno ^a   Bertini, Enrico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Cerebellar hypoplasia; Cortical dysgenesis; Polymicrogyria; Tubulin 1A

Indexed keywords

ALPHA TUBULIN; TUBA1A PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CORPUS CALLOSUM AGENESIS; DIFFUSION TENSOR IMAGING; FEMALE; FRACTIONAL ANISOTROPY; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; LATERAL BRAIN VENTRICLE; MICROGYRIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RHOMBENCEPHALON;

ANIMALS; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LISSENCEPHALY; MAGNETIC RESONANCE IMAGING; MALFORMATIONS OF CORTICAL DEVELOPMENT; MODELS, MOLECULAR; MUTATION; TUBULIN;

EID: 84878831109     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.12.006     Document Type: Article

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