Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23

American Journal of Human Genetics

Volumn 87, Issue 5, 2010, Pages 593-603

  Bakalkin, Georgy ^a   Watanabe, Hiroyuki ^a   Jezierska, Justyna ^b   Depoorter, Cloë ^b   Verschuuren Bemelmans, Corien ^b   Bazov, Igor ^a   Artemenko, Konstantin A ^a   Yakovleva, Tatjana ^a   Dooijes, Dennis ^c   Van De Warrenburg, Bart P C ^d   Zubarev, Roman A ^e   Kremer, Berry ^b   Knapp, Pamela E ^f   Hauser, Kurt F ^f   Wijmenga, Cisca ^b   Nyberg, Fred ^a   Sinke, Richard J ^b,c   Verbeek, Dineke S ^b  

^a UPPSALA UNIVERSITY   (Sweden)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e KAROLINSKA INSTITUTE   (Sweden)

^f VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYNORPHIN A; GLUTAMIC ACID; PRODYNORPHIN; PROTEIN PRECURSOR;

ADULT; AGED; ARTICLE; ATAXIA; CONTROLLED STUDY; FEMALE; GENE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NETHERLANDS; NEUROTOXICITY; NUCLEOTIDE SEQUENCE; PDYN GENE; PRIORITY JOURNAL; PROTEIN DOMAIN; PURKINJE CELL; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR ATAXIA TYPE 23; SPINOCEREBELLAR DEGENERATION;

CEREBELLUM; DYNORPHINS; ENKEPHALINS; FEMALE; GLUTAMATE PLASMA MEMBRANE TRANSPORT PROTEINS; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN PRECURSORS; PURKINJE CELLS; SPINOCEREBELLAR DEGENERATIONS;

EID: 78249278153     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.001     Document Type: Article

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