Mutations in KCND3 cause spinocerebellar ataxia type 22

Annals of Neurology

Volumn 72, Issue 6, 2012, Pages 859-869

  Lee, Yi Chung ^a,b   Durr, Alexandra ^c,d,e,f   Majczenko, Karen ^g,h   Huang, Yen Hua ^a   Liu, Yu Chao ^a   Lien, Cheng Chang ^a   Tsai, Pei Chien ^a   Ichikawa, Yaeko ⁱ   Goto, Jun ⁱ   Monin, Marie Lorraine ^c,d,e   Li, Jun Z ^h   Chung, Ming Yi ^a,b   Mundwiller, Emeline ^c,d,e   Shakkottai, Vikram ^h   Liu, Tze Tze ^a   Tesson, Christelle ^c,d,e,j   Lu, Yi Chun ^b   Brice, Alexis ^c,d,e,f   Tsuji, Shoji ⁱ   Burmeister, Margit ^g,h,k   Stevanin, Giovanni ^c,d,e,f,j   Soong, Bing Wen ^a,b   more..

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c National Institute of Health and Medical Research   (France)

^d CNRS   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g UNIVERSITY OF MICHIGAN   (United States)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF TOKYO   (Japan)

^j PSL RESEARCH UNIVERSITY   (France)

^k UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL; VOLTAGE GATED POTASSIUM CHANNEL KV4.3;

ARTICLE; BRAIN MAPPING; CHROMOSOME 1P; CHROMOSOME 1Q; CONDUCTANCE; CONTROLLED STUDY; CYTOPLASM; ELECTROPHYSIOLOGY; EXOME; FEMALE; GENE DELETION; GENE SEQUENCE; HUMAN; IMMUNOFLUORESCENCE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATCH CLAMP; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SPINOCEREBELLAR ATAXIA 22; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GREEN FLUORESCENT PROTEINS; HEK293 CELLS; HUMANS; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MUTATION; PATCH-CLAMP TECHNIQUES; SHAL POTASSIUM CHANNELS; SPINOCEREBELLAR DEGENERATIONS; TRANSFECTION; YOUNG ADULT;

EID: 84871989725     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23701     Document Type: Article

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