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A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family

Author
MATSUYAMA, Zenjiro1 ; MURASE, Masahiko2 ; SHIMIZU, Hirotaka2 ; AOKI, Yoko1 ; HAYASHI, Misato1 ; HOZUMI, Isao1 ; INUZUKA, Takashi1
[1] Department of Neurology and Geriatrics, Gifu University, School of Medicine, Tsukasa-Machi Gifu, 500-8705, Japan
[2] Department of First Internal Medicine, Gifu University, School of Medicine, Tsukasa-Machi, Gifu, 500-8705, Japan
Source

Journal of the neurological sciences. 2003, Vol 210, Num 1-2, pp 91-93, 3 p ; ref : 9 ref

CODEN
JNSCAG
ISSN
0022-510X
Scientific domain
Neurology
Publisher
Elsevier Science, Shannon
Publication country
Ireland
Document type
Article
Language
English
Author keyword
A Japanese family Acetazolamide Episodic ataxia type 2 (EA-2) Gene analysis
Keyword (fr)
Acétazolamide Ataxie Etude familiale Exploration Génétique Homme Mutation insertion Sulfonamide Ataxie épisodique Encéphale pathologie Système nerveux central pathologie Système nerveux pathologie Trouble neurologique
Keyword (en)
Acetazolamide Ataxia Family study Exploration Genetics Human Insertion mutation Sulfonamide Cerebral disorder Central nervous system disease Nervous system diseases Neurological disorder
Keyword (es)
Acetazolamida Ataxia Estudio familiar Exploración Genética Hombre Mutación inserción Sulfonamida Encéfalo patología Sistema nervosio central patología Sistema nervioso patología Trastorno neurológico
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A01 Nervous system as a whole

Discipline
Neurology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
14746081

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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