NOTCH2NLCリピート拡張を有する神経核内封入体症患者における遺伝的、臨床的、画像的特徴の異質性

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Summary, etc.：: Abstract: Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinuc...

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Material Type: 博士論文
Title: NOTCH2NLCリピート拡張を有する神経核内封入体症患者における遺伝的、臨床的、画像的特徴の異質性
Author/Editor: アディフィトラ, ユスラン
Author Heading: アディフィトラ, ユスラン
Alternative Title: Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLCRepeat Expansion
Degree grantor/type: 新潟大学
Date Granted: 2023-09-20
Dissertation Number: 甲第5232号
Degree Type: 博士（医学）
Text Language Code: eng
Subject Heading: neuronal intranuclear inclusion disease
GGC repeat expansion
NOTCH2NLC
clinical presentations
neuroimaging
genotype–phenotype correlation
Target Audience: 一般
Note (General): Brain Sciences. 2023, 13(6), 955.
新大院博（医）第1153号
Format (IMT): application/pdf
Source: 本文（fulltext）
https://niigata-u.repo.nii.ac.jp/record/2001403/files/r5nmk1153.pdf
Access Restrictions: インターネット公開
Related Material (DOI): 10.3390/brainsci13060955
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 新潟大学 : 新潟大学学術リポジトリ