Mutations in potassium channel KCND3 cause spinocerebellar ataxia type 19

Annals of Neurology

Volumn 72, Issue 6, 2012, Pages 870-880

  Duarri, Anna ^a   Jezierska, Justyna ^a   Fokkens, Michiel ^a   Meijer, Michel ^a   Schelhaas, Helenius J ^b   Den Dunnen, Wilfred F A ^a   Van Dijk, Freerk ^c   Verschuuren Bemelmans, Corien ^a   Hageman, Gerard ^d   Van De Vlies, Pieter ^a   Küsters, Benno ^b   Van De Warrenburg, Bart P ^b   Kremer, Berry ^a   Wijmenga, Cisca ^a   Sinke, Richard J ^a   Swertz, Morris A ^a   Kampinga, Harm H ^a   Boddeke, Erik ^a   Verbeek, Dineke S ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d MEDISCH SPECTRUM TWENTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEIC ACID BINDING PROTEIN; POTASSIUM CHANNEL KCND 3; SHAL POTASSIUM CHANNEL; SPINOCEREBELLAR ATAXIA TYPE 19 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOPSY; CELL MEMBRANE; CHROMOSOME 1P; ENDOPLASMIC RETICULUM; EXOME; GENE EXPRESSION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; PURKINJE CELL; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION;

AGED; AGED, 80 AND OVER; BRAIN; CASE-CONTROL STUDIES; CHROMATIN IMMUNOPRECIPITATION; CYCLOHEXIMIDE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEK293 CELLS; HELA CELLS; HUMANS; LUMINESCENT PROTEINS; MALE; MEMBRANE POTENTIALS; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PROTEIN SYNTHESIS INHIBITORS; SHAL POTASSIUM CHANNELS; SILVER STAINING; SPINOCEREBELLAR DEGENERATIONS; TIME FACTORS; TRANSFECTION;

EID: 84871998158     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23700     Document Type: Article

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