KIF1A mutation in a patient with progressive neurodegeneration

Journal of Human Genetics

Volumn 59, Issue 11, 2014, Pages 639-641

  Okamoto, Nobuhiko ^a   Miya, Fuyuki ^b   Tsunoda, Tatsuhiko ^b   Yanagihara, Keiko ^a   Kato, Mitsuhiro ^c   Saitoh, Shinji ^d   Yamasaki, Mami ^e   Kanemura, Yonehiro ^f   Kosaki, Kenjiro ^g  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b Institute of Physical and Chemical Research   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

^d NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^e Takatsuki   (Japan)

^f OSAKA NATIONAL HOSPITAL   (Japan)

^g KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

KINESIN; KIF1A PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHILD; CLONIC SEIZURE; DEGENERATIVE DISEASE; GENE; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KIF1A GENE; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NERVE DEGENERATION; NEUROGENIC BLADDER; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; SCHOOL CHILD; SENSORY NEUROPATHY; SPASTIC PARAPLEGIA; SPASTICITY; DISEASE PROGRESSION; EXOME; GENETIC PREDISPOSITION TO DISEASE; GENETICS; HUMANS; METHODS; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; PATHOLOGY; SEQUENCE ANALYSIS, DNA;

CHILD; DISEASE PROGRESSION; EXOME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KINESIN; MALE; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84925235788     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.80     Document Type: Article

References (6)

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