Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13

Cerebellum

Volumn 12, Issue 6, 2013, Pages 932-936

  Subramony, S H ^a,f   Advincula, Joel ^b   Perlman, Susan ^c   Rosales, Raymond L ^d   Lee, Lillian V ^e   Ashizawa, Tetsuo ^a,f   Waters, Michael F ^a,f  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b WEST VISAYAS STATE UNIVERSITY   (Philippines)

^c UCLA MEDICAL CENTER   (United States)

^d UNIVERSITY OF SANTO TOMAS   (Philippines)

^e Philippine Children's Medical Center   (Philippines)

^f UNIVERSITY OF FLORIDA   (United States)

Author keywords

Ataxia; Neurodegeneration; Neurogenetics; Spinocerebellar ataxia type 13; Voltage gated potassium channel

Indexed keywords

ACHILLES REFLEX; ADULT; AGED; ARTICLE; ATAXIA; ATAXIC GAIT; CEREBELLUM ATROPHY; CLINICAL ARTICLE; DIAGNOSTIC TEST; DISEASE DURATION; DYSARTHRIA; FEMALE; FILIPINO; HAPLOTYPE; HUMAN; LIMB ATAXIA; LIMB DISEASE; MALE; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SPINOCEREBELLAR DEGENERATION; SPINOCEREBELLAR DEGENERATION TYPE 13;

ADULT; ARGININE; CEREBELLUM; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENOTYPE; HISTIDINE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PHILIPPINES; SHAW POTASSIUM CHANNELS; SPINOCEREBELLAR DEGENERATIONS;

EID: 84892445530     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-013-0507-6     Document Type: Article

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