Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Annals of Neurology

Volumn 73, Issue 4, 2013, Pages 546-553

  Hersheson, Joshua ^a   Mencacci, Niccolo E ^a,b   Davis, Mary ^a   MacDonald, Nicola ^c   Trabzuni, Daniah ^a,e   Ryten, Mina ^a   Pittman, Alan ^a   Paudel, Reema ^a   Kara, Eleanna ^a   Fawcett, Katherine ^a   Plagnol, Vincent ^a   Bhatia, Kailash P ^a   Medlar, Alan J ^d   Stanescu, Horia C ^d   Hardy, John ^a   Kleta, Robert ^d   Wood, Nicholas W ^a   Houlden, Henry ^a  

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

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BETA TUBULIN; BETA TUBULIN 4A; GLUTAMIC ACID; ISOLEUCINE; METHIONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOREGULATION; CHROMOSOME 19P; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; IN VITRO STUDY; LINKAGE ANALYSIS; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION;

ADULT; ANIMALS; AUSTRALIA; BRAIN; DYSTONIC DISORDERS; ENGLAND; EXOME; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TUBULIN;

EID: 84878408023     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23832     Document Type: Article

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