Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

Nature Genetics

Volumn 39, Issue 12, 2007, Pages 1434-1436

  Houlden, Henry ^a   Johnson, Janel ^a,b   Gardner Thorpe, Christopher ^c   Lashley, Tammaryn ^a   Hernandez, Dena ^b   Worth, Paul ^d   Singleton, Andrew B ^b   Hilton, David A ^e   Holton, Janice ^a   Revesz, Tamas ^a   Davis, Mary B ^a   Giunti, Paolo ^a   Wood, Nicholas W ^a  

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

^b NATIONAL INSTITUTE ON AGING   (United States)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^d NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^e DERRIFORD HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 11; MICROTUBULE ASSOCIATED PROTEIN; PROTEIN; TAU TUBULIN KINASE 2; UNCLASSIFIED DRUG;

ARTICLE; BRAIN TISSUE; CEREBELLUM DEGENERATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MICROTUBULE; PHOSPHORYLATION; PRIORITY JOURNAL;

AGED; AGED, 80 AND OVER; ANIMALS; BRAIN; CODON, NONSENSE; FRAMESHIFT MUTATION; HUMANS; MICE; PHOSPHORYLATION; PROTEIN-SERINE-THREONINE KINASES; RATS; SPINOCEREBELLAR DEGENERATIONS; TAU PROTEINS;

EID: 36549023424     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2007.43     Document Type: Article

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