神戸大学大学院医学研究科

神経内科学分野

業績集

2017

さらに詳細は分子脳科学の HP も参照して下さい

原著論文：
2017 年

英文

WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort
study.
Yuan JH, Hashiguchi A, Yoshimura A, Sakai N, Takahashi MP, Ueda T, Taniguchi A, Okamoto S, Kanazawa N,Yamamoto Y, Saigoh K, Kusunoki S, Ando M, Hiramatsu Y, Okamoto Y, Takashima H.
Clin Genet. 2017; 92(6): 659-63.

Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular
dystrophy.
Yoshioka M, Kobayashi K, Toda T.
Brain Dev. 2017; 39(10): 869-72.

Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy.
Yamamoto T, Taniguchi-Ikeda M, Awano H, Matsumoto M, Lee T, Harada R, Imanishi T, Hayashi N, Sakai Y,
Morioka I, Takeshima Y, Iijima K, Saegusa J, Toda T.
Brain Dev. 2017; 39(10): 861-868.

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophyin Japan.
Kobayashi K, Kato R, Kondo-Iida E, Taniguchi-Ikeda M, Osawa M, Saito K, Toda T.
J Hum Genet. 2017; 62(11): 945-8.

Intravenous immunoglobulin for maintenance treatment of chronic inflammatory demyelinating polyneuropathy: amulticentre, open-label, 52-week phase III trial.
Kuwabara S, Mori M, Misawa S, Suzuki M, Nishiyama K, Mutoh T, Doi S, Kokubun N, Kamijo M, Yoshikawa H,Abe K, Nishida Y, Okada K, Sekiguchi K, Sakamoto K, Kusunoki S, Sobue G, Kaji R;
Glovenin-I CIDP Study Group.
J Neurol Neurosurg Psychiatry. 2017; 88(10): 832-8.

Less Limb Muscle Involvement in Myositis Patients with Anti-Mitochondrial Antibodies.

Uenaka T, Kowa H, Ohtsuka Y, Seki T, Sekiguchi K, Kanda F, Toda T.
Eur Neurol. 2017; 78(5-6): 290-5.

Validation of the R2CHADS2 and CHADS2 Scores for Predicting Post-stroke Cognitive Impairment.
Washida K, Kowa H, Hamaguchi H, Kanda F, Toda T.
Intern Med. 2017; 56(20): 2719-25.

Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the foundermutation in Japan.
Ueda T, Kanda F, Nishiyama M, Nishigori C, Toda T.
J Neurol Sci. 2017; 381: 103-6.

Xeroderma pigmentosum clinical practice guidelines.
Moriwaki S, Kanda F, Hayashi M, Yamashita D, Sakai Y, Nishigori C;
Xeroderma pigmentosum clinical practice guidelines revision committee.
J Dermatol. 2017; 44(10): 1087-96.

The Ror1 receptor tyrosine kinase plays a critical role in regulating satellite cell proliferation during regenerationof injured muscle.
Kamizaki K, Doi R, Hayashi M, Saji T, Kanagawa M, Toda T, Fukada SI, Ho HH, Greenberg ME, Endo M,Minami Y.
J Biol Chem. 2017; 292(38): 15939-51.

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y,Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K.
J Hum Genet. 2017; 62(9): 869.

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y,Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K.
J Hum Genet. 2017; 62(9): 851-5.

Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
Endo H, Uenaka T, Satake W, Suzuki Y, Tachibana H, Chihara N, Ueda T, Sekiguchi K, Mariko TI, Kowa H,Kanda F, Toda T.
Neurol Clin Neurosci. 2017; 5(4): 131-3.

Ultrasonographic findings of proximal median neuropathy: A case series of suspected distal neuralgic amyotrophy.
Noda Y, Sekiguchi K, Tokuoka H, Oda T, Hamaguchi H, Kanda F, Toda T.
J Neurol Sci. 2017; 377: 1-5.

Brain uptake and safety of Flutemetamol F 18 injection in Japanese subjects with probable Alzheimer's disease,subjects with amnestic mild cognitive impairment and healthy volunteers.
Miki T, Shimada H, Kim JS, Yamamoto Y, Sugino M, Kowa H, Heurling K, Zanette M, Sherwin PF, Senda M.
Ann Nucl Med. 2017; 31(3): 260-272.

Paranodal lesions in chronic inflammatory demyelinating polyneuropathy associated with anti-Neurofascin 155
antibodies.
Vallat JM, Yuki N, Sekiguchi K, Kokubun N, Oka N, Mathis S, Magy L, Sherman DL, Brophy PJ, Devaux JJ.
Neuromuscul Disord. 2017; 27(3): 290-293.

Ichiro Kanazawa, MD, PhD, 1941-2016.
Toda T.
J Hum Genet. 2017; 62(2): 133-4.

Muscular

Dystrophy

withRibitol-Phosphate

Deficiency:

A

Novel

Post-Translational

Mechanism

in

Dystroglycanopathy.
Kanagawa M, Toda T.
J Neuromuscul Dis. 2017; 4(4): 259-67.

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysisof a large multicenter study.
Wang L, Heckman MG, Aasly JO, Annesi G, Bozi M, Chung SJ, Clarke C, Crosiers D, Eckstein G, Garraux G,Hadjigeorgiou GM, Hattori N, Jeon B, Kim YJ, Kubo M, Lesage S, Lin JJ, Lynch T, Lichtner P, Mellick GD,Mok V, Morrison KE, Quattrone A, Satake W, Silburn PA, Stefanis L, Stockton JD, Tan EK, Toda T, Brice A,Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Gasser T, Krüger R,Farrer MJ, Ross OA, Sharma M; GEOPD Consortium.
Neurobiol Aging. 2017; 49: 217.e1-217.e4.

Dopamine transporter imaging as a diagnostic modality for atypical Alzheimer's disease mimicking corticobasal
degeneration.
Washida K, Kowa H, Yamamoto Y, Kanda F, Toda T.
Psychogeriatrics. 2017; 17(1): 73-5.

総説、解説：2017 年

和文【パーキンソン病の新展開-発症の分子機構と新規治療】 分子機構解明の新しい展開

ゲノムワイド関連解析(GWAS)からの新展開
戸田 達史, 佐竹 渉
医学のあゆみ 262 巻 6 号 Page 617-621 (2017.08)【認知症 1,000 万人時代を目前に控えて-最新の診断,マネジメント,そして分子標的治療へ】認知症診療の最前線兵庫県ならびに神戸市における認知症診療体制の現状
古和 久朋
内科 120 巻 2 号 Page 225-228 (2017.08)

神経筋電気診断 Case of the Issue(No.12) 「首下がり症候群」への筋電図によるアプローチ 体幹部の筋電図検査の重要性について
関口 兼司
臨床神経生理学 45 巻 4 号 Page 190-197 (2017.08)【最新遺伝医学研究と遺伝カウンセリング シリーズ 2 最新精神・神経遺伝医学研究と遺伝カウンセリング】(第 1 章)総論 孤発性疾患のリスク遺伝子の発見 ゲノムワイド関連解析の現状、進化と今後
佐竹 渉, 戸田 達史
遺伝子医学 MOOK 別冊最新精神・神経遺伝医学研究と遺伝カウンセリング Page 39-44 (2017.04)【パーキンソン病-基礎・臨床の最新情報-】 総論 パーキンソン病の原因遺伝子
戸田 達史
日本臨床 75 巻 1 号 Page 21-27 (2017.01)