Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Nature Genetics

Volumn 36, Issue 9, 2004, Pages 1008-1013

  Ferland, Russell J ^a   Eyaid, Wafaa ^b   Collura, Randall V ^c   Tully, Laura D ^a   Hill, R Sean ^a   Al Nouri, Doha ^b   Al Rumayyan, Ahmed ^b   Topcu, Meral ^d   Gascon, Generoso ^e,f   Bodell, Adria ^a   Shugart, Yin Yao ^g   Ruvolo, Maryellen ^c   Walsh, Christopher A ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b KING FAHAD NATIONAL GUARD HOSPITAL   (Saudi Arabia)

^c HARVARD UNIVERSITY   (United States)

^d HACETTEPE UNIVERSITY   (Turkey)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^f BROWN UNIVERSITY   (United States)

^g JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AHI1 GENE; ANIMAL TISSUE; ARTICLE; BEHAVIOR DISORDER; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CEREBELLUM; CEREBELLUM DEVELOPMENT; CEREBELLUM VERMIS; CHILD; CHROMOSOME 6Q; COGNITIVE DEFECT; DEVELOPMENTAL COORDINATION DISORDER; DEVELOPMENTAL DISORDER; EVOLUTION; GAIT DISORDER; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC SELECTION; HUMAN; JOUBERT SYNDROME; LOCOMOTION; MOTOR DYSFUNCTION; MOUSE; NERVE FIBER; NERVE FIBER DECUSSATION; NERVE TRACT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHYLOGENY; PRIORITY JOURNAL; PYRAMIDAL TRACT; SUPERIOR CEREBELLUM PEDUNCLE;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; BRAIN; BRAIN STEM; CEREBELLUM; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHYLOGENY; SYNDROME;

ANIMALIA;

EID: 4444311117     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1419     Document Type: Article

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