An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

Movement Disorders

Volumn 25, Issue 13, 2010, Pages 2176-2182

  Novak, Marianne J U ^a,b   Sweeney, Mary G ^a   Li, Abi ^b   Treacy, Colm ^a   Chandrashekar, Hoskote S ^a   Giunti, Paola ^a   Goold, Robert G ^b   Davis, Mary B ^a   Houlden, Henry ^a,b   Tabrizi, Sarah J ^a,b  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Cerebellum; Linkage (genetics); Magnetic resonance imaging; Movement disorders; Spinocerebellar ataxias

Indexed keywords

ATAXIN 1; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR;

ADULT; ARTICLE; ATAXIA; BALANCE IMPAIRMENT; BRAIN SIZE; CASE REPORT; CEREBELLUM ATROPHY; CHROMOSOME 3; CONTROLLED STUDY; DYSARTHRIA; EXON; EYE MOVEMENT; FEMALE; GENE DELETION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HEARING LOSS; HUMAN; HUMAN CELL; JAPANESE; LABYRINTHITIS; LYMPHOBLASTOID CELL LINE; MALE; MYOCLONUS; NAUSEA AND VOMITING; NUCLEAR MAGNETIC RESONANCE; OUTCOME ASSESSMENT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; RADIODIAGNOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLURRED SPEECH; SPINOCEREBELLAR DEGENERATION; UNSTEADINESS; VERTIGO; WESTERN BLOTTING;

ADULT; FAMILY HEALTH; FEMALE; GENE DELETION; GENETIC TESTING; HUMANS; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SPINOCEREBELLAR ATAXIAS;

EID: 78649385770     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23223     Document Type: Article

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