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Updated: Jul 4, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

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CACNA1A D1634N変異の階層モデリングは,アタキシア,,認知欠陥と関連している

Jacqueline Niu1, Chi-Kun Tong1, Ekniel Francois2

  • 1Department of Physiology and Cellular Biophysics, Columbia University Irving Medical Centre, New York, NY 10032, USA.

Brain : a journal of neurology
|February 17, 2026
PubMed
まとめ

新種のCACNA1A変異により,CaV2.1カルシウムチャネルの機能が失われ,アタキシアやなどの神経疾患が生じます. この研究は,治療開発のための新しい疾患モデルを開発しています.

キーワード:
CACNA1AA (カクナ1A) とはアタキシアアタキシアとはカルシウムチャネルのカルシウムチャネル小脳は小脳である.チャネル病変症 (チャネル病変症) とはエピレプシー エピレプシー

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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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