Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

DOI Hiroshi; KOYANO Shigeru; MIYATAKE Satoko; MIYATAKE Satoko; NAKAJIMA Shinji; NAKAZAWA Yuka; KUNII Misako; TOMITA-KATSUMOTO Atsuko; ODA Kayoko; YAMAGUCHI Yukie; FUKAI Ryoko; IKEDA Shingo; KATO Rumiko; OGATA Katsuhisa; KUBOTA Shun; HAYASHI Noriko; TAKAHASHI Keita; TADA Mikiko; TANAKA Kenichi; NAKASHIMA Mitsuko; TSURUSAKI Yoshinori; MIYAKE Noriko; SAITSU Hirotomo; OGI Tomoo; AIHARA Michiko; TAKEUCHI Hideyuki; MATSUMOTO Naomichi; TANAKA Fumiaki

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J-GLOBAL ID：201802240254503708 Reference number：18A0768443

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

ERCC4変異を有する患者における小脳性運動失調優性表現型

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Material：
Volume： 63 Issue： 4 Page： 417-423 Publication year： Apr. 2018
JST Material Number： Z0756A ISSN： 1434-5161 Document type： Article
Article type：原著論文 Country of issue： United Kingdom (GBR) Language： ENGLISH (EN)

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Nervous system diseases

Reference (18)：

Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, et al. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet. 2013;92:245-51.
Pyle A, Griffin H, Yu-Wai-Man P, Duff J, Eglon G, Pickering-Brown S, et al. Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. Arch Neurol. 2012;69:1351-4.
Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, et al. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. Intern Med. 2013;52:1629-33.
Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, et al. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. Eur J Neurol. 2013;20:486-92.
Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, et al. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell. 1996;86:811-22.

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