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
- 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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DOI
10.1016/S0022-510X(03)00008-X 
https://dx.doi.org/10.1016/S0022-510X(03)00008-X
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