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遺伝性末梢神経障害のリハビリテーション医療 (特集 末梢神経障害のリハビリテーション医療)

遺伝性末梢神経障害のリハビリテーション医療 (特集 末梢神経障害のリハビリテーション医療)
紙記事
大竹 弘哲<Z19-283>The Japanese journal of rehabilitation medicine = リハビリテーション医学 / 日本リハビリテーション医学会 編60(3)=513:2023.3p.197-201
国立国会図書館全国の図書館
  • 並列タイトル等（連結）Rehabilitation Medicine for Hereditary Peripheral Neuropathies
  • 並列タイトル等Rehabilitation Medicine for Hereditary Peripheral Neuropathies

ミトコンドリア関連核遺伝子の新規変異による複合遺伝性末梢神経障害

書影書影書影
ミトコンドリア関連核遺伝子の新規変異による複合遺伝性末梢神経障害
デジタル博士論文障害者向け資料あり
平松, 有Springer2022-07-19
国立国会図書館
  • 件名Peripheral neuropathy Whole-exome sequen...
  • 一般注記... disorders and peripheral neuropathy is ......s in suspected hereditary peripheral neuropathy pat......ally suspected hereditary peripheral neuropathy pat......s with complex hereditary axonal polyneu......kashimaComplex hereditary peripheral neuropathies caused by novel variants in m...
  • 並列タイトル等（連結）Complex hereditary peripheral neuropathies caused by novel variants in m...

GARS変異による遺伝性末梢神経障害7例の臨床的特徴

GARS変異による遺伝性末梢神経障害7例の臨床的特徴
紙記事
橋口 昭大, 吉村 明子, 安藤 匡宏, 樋口 雄二郎, 中村 友紀, 岡本 裕嗣, 松浦 英治, 髙嶋 博<Z19-3643>末梢神経 = Peripheral nerve31(1):2020p.98-104
国立国会図書館全国の図書館
  • 件名...nal neuropathy hereditary motor neuropathy aminoacyl tR...
  • 並列タイトル等（連結）Clinical characteristics of 7 cases of hereditary peripheral neuropathy caused by GARS mut...
  • 並列タイトル等Clinical characteristics of 7 cases of hereditary peripheral neuropathy caused by GARS mut...

The Gale encyclopedia of neurological disorders Fourth edition

The Gale encyclopedia of neurological disorders Fourth edition
デジタル電子書籍・電子雑誌図書
Brigham Narins, editorGale[2023]
国立国会図書館
  • 内容細目...ke in children Hereditary spastic parapl......se Nutritional neuropathies Obsessive-comp......odic paralysis Peripheral nervous system Peripheral neuropathy Periventricular le...

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
デジタル記事
2022-03-02Journal of Neurology269 8p.4129-4140
全国の図書館
  • 要約等... disorders and peripheral neuropathy is ......s in suspected hereditary peripheral neuropathy pat......ally suspected hereditary peripheral neuropathy pat......s with complex hereditary axonal polyneuropathy, accomp...
  • 参照...utation causes hereditary motor and sens......eler transform Peripheral neuropathy is ......thyroidism and peripheral polyneuropathy......ic atrophy and peripheral neuropathy Nov......ssociates with peripheral neuropathy Def...... an adult with peripheral neuropathy and......tic neuropathy Peripheral neuropathy in ......d Requirements Peripheral neuropathy, ep......ly with distal hereditary motor neuropathy and a K141Q ...

遺伝性ニューロパチーCharcot-Marie-Tooth病原因遺伝子を標的とした抗がん剤誘発性末梢神経障害の発現機序解明

遺伝性ニューロパチーCharcot-Marie-Tooth病原因遺伝子を標的とした抗がん剤誘発性末梢神経障害の発現機序解明
紙記事
山下 郁太<Z74-C235>福岡大学薬学集報 = Pharmaceutical bulletin of Fukuoka University / 福岡大学薬学集報編集委員会 編19(43):2019.3p.13-22
国立国会図書館全国の図書館
  • 件名oxaliplatin paclitaxel vincristine peripheral neuropathy Charcot-Marie-Toot...
  • 並列タイトル等（連結）...r drug-induced peripheral neuropathy targeted to hereditary neuropathy Charcot-Marie-Toot...
  • 並列タイトル等...r drug-induced peripheral neuropathy targeted to hereditary neuropathy Charcot-Marie-Toot...

The Gale encyclopedia of neurological disorders Third edition.

The Gale encyclopedia of neurological disorders Third edition.
デジタル電子書籍・電子雑誌図書
project editor, Deirdre S. Hiam.Gale, a Cengage Company[2017]
国立国会図書館
  • 内容細目...and paraplegia Hereditary spastic parapl......se Nutritional neuropathies Occipital neur......odic paralysis Peripheral nervous system Peripheral neuropathy Periventricular le...

Hereditary peripheral neuropathies of childhood: An overview for clinicians

Hereditary peripheral neuropathies of childhood: An overview for clinicians
デジタル記事
2011-11Neuromuscular Disorders21 11p.763-775
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Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies

Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies
デジタル記事
2013-08Biochimie95 8p.1582-1592
全国の図書館
  • 参照A family with distal hereditary motor neuropathy and a K141Q ...

症例報告 小脳性運動失調と拡張型心筋症とを伴うミトコンドリアDNA11778番塩基対変異を有するLeber遺伝性視神経症の1例

症例報告 小脳性運動失調と拡張型心筋症とを伴うミトコンドリアDNA11778番塩基対変異を有するLeber遺伝性視神経症の1例
紙デジタル記事
渡邉 由佳, 小鷹 昌明, 平田 幸一<Z19-266>Brain and nerve61(3) 2009.3p.309～312
国立国会図書館全国の図書館
  • 件名Leber's hereditary optic neuropat......cardiomyopathy peripheral neuropathy mitochondrial DNA ...
  • 並列タイトル等（連結）...ase of Leber's hereditary optic neuropat......iomyopathy and peripheral neuropathy
  • 並列タイトル等...ase of Leber's hereditary optic neuropat......iomyopathy and peripheral neuropathy

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
デジタル記事
2019-01-12Journal of Neurology266 3p.735-744
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Gene dosage effects in hereditary peripheral neuropathy

Gene dosage effects in hereditary peripheral neuropathy
デジタル記事
1997-12Neurology49 6p.1635-1640
全国の図書館
  • 並列タイトル等（連結）Expression of peripheral myelin protein......se type 1A and hereditary neuropathy with liability to ...
  • 並列タイトル等Expression of peripheral myelin protein......se type 1A and hereditary neuropathy with liability to ...

遺伝性ニューロパチー Charcot-Marie-Tooth 病原因遺伝子を標的とした抗がん剤誘発性末梢神経障害の発現機序解明

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デジタル記事
Yamashita, Yuta, 山下, 郁太福岡大学研究推進部2019-03福岡大学薬学集報19p.13-22
全国の図書館
  • 件名oxaliplatin paclitaxel vincristine peripheral neuropathy Charcot-Marie-Toot...
  • 並列タイトル等（連結）...r drug-induced peripheral neuropathy targeted to hereditary neuropathy Charcot-Marie-Toot...
  • 並列タイトル等...r drug-induced peripheral neuropathy targeted to hereditary neuropathy Charcot-Marie-Toot...

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)
デジタル記事
2007-09The American Journal of Human Genetics81 3p.552-558
全国の図書館

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)
デジタル記事
2019-03Neuromuscular Disorders29 3p.213-220
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Clinical features and molecular genetics of hereditary peripheral neuropathies

Clinical features and molecular genetics of hereditary peripheral neuropathies
記事
2002J Neurol249p.1629-1650
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Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
記事
2007Am J Hum Genet81p.552-558
全国の図書館

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy
デジタル記事
2015-11Journal of the Neurological Sciences358 1-2p.422-427
全国の図書館

Hereditary Peripheral Neuropathies: Clinical Forms, Genetics, and Molecular Mechanisms

Hereditary Peripheral Neuropathies: Clinical Forms, Genetics, and Molecular Mechanisms
デジタル記事
1999-02Annual Review of Medicine50 1p.263-275
全国の図書館
  • 要約等<jats:p> Hereditary peripheral neuropathies, among the mos......oration of the peripheral nerves. This g......rders includes hereditary neuropathy with liability to ...
  • 参照... for analyzing peripheral nerve differentiation and dis...

A Commom Disease Mechanism for Hereditary Neuropathies Due to Point Mutations in the Peripheral Myelin Protein 22 (ETH Diss. ; Nr. 13530)

A Commom Disease Mechanism for Hereditary Neuropathies Due to Point Mutations in the Peripheral Myelin Protein 22 (ETH Diss. ; Nr. 13530)
マイクロ博士論文
Roland Naef.Eidgenössische Technische Hochschule Zürich2000.<LS-DISE-13530>
国立国会図書館