De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

Journal of Human Genetics

Volumn 60, Issue 12, 2015, Pages 739-742

  Ohba, Chihiro ^a,b   Haginoya, Kazuhiro ^c   Osaka, Hitoshi ^d,e   Kubota, Kazuo ^f   Ishiyama, Akihiko ^f   Hiraide, Takuya ^f   Komaki, Hirofumi ^f   Sasaki, Masayuki ^f   Miyatake, Satoko ^a   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Tanaka, Fumiaki ^b   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c Takuto Rehabilitation Center for Children   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e JICHI MEDICAL UNIVERSITY   (Japan)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

KIF1A PROTEIN; KINESIN; UNCLASSIFIED DRUG; KIF1A PROTEIN, HUMAN;

ADULT; ARM; ARTICLE; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXOME; FAMILY; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC SCREENING; HUMAN; INTELLECTUAL IMPAIRMENT; LEG; LOWER LIMB SPASTICITY; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; NERVE CONDUCTION; NERVE CONDUCTION VELOCITY TEST; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; SPASTICITY; SYMPTOM; TENDON REFLEX; VISUAL DISORDER; WHOLE EXOME SEQUENCING; AMINO ACID SUBSTITUTION; GENETICS; LOWER LIMB; MISSENSE MUTATION; PATHOLOGY; PATHOPHYSIOLOGY;

AMINO ACID SUBSTITUTION; CEREBELLAR DISEASES; FEMALE; HUMANS; INTELLECTUAL DISABILITY; KINESIN; LOWER EXTREMITY; MALE; MUSCLE SPASTICITY; MUTATION, MISSENSE; VISION DISORDERS;

EID: 84951175392     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.108     Document Type: Article

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