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Updated: May 11, 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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アタクシアの遺伝子検査に関する実践的勧告

Sharan R Srinivasan1, Amy D Mook1, Michelle Rochman2

  • 1Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.

Annals of clinical and translational neurology
|August 30, 2025
PubMed
まとめ

この研究はアタキシアの遺伝子カウンセリングと検査のための 最初の標準化されたガイドラインを提供します. 推薦書は,説明がつかないアタクシアの患者を早期に診断し,治療するための臨床医の評価を支援します.

キーワード:
アタキシア遺伝子カウンセリング遺伝子検査ゲノム学遺伝性

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