✦ LIBER ✦

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS ( FUS ) resulting in the totally locked-in state

✍ Scribed by Mochizuki, Yoko; Kawata, Akihiro; Maruyama, Hirofumi; Homma, Taku; Watabe, Kazuhiko; Kawakami, Hideshi; Komori, Takashi; Mizutani, Toshio; Matsubara, Shiro

Book ID: 125469363
Publisher: John Wiley and Sons
Year: 2014
Tongue: English
Weight: 373 KB
Volume: 34
Category: Article
ISSN: 0919-6544
DOI: 10.1111/neup.12130

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A Japanese ALS6 family with mutation R52

A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: A clinical, pathological and genetic report

✍ Yukiko Yamamoto-Watanabe; Mitsunori Watanabe; Koichi Okamoto; Yukio Fujita; Mand 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 560 KB

The occurrence of mutations in FUS in a

The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS

✍ P. Van Damme; A. Goris; V. Race; N. Hersmus; B. Dubois; L. Van Den Bosch; G. Ma 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB

Novel mutation of the Notch3 gene in a J

Novel mutation of the Notch3 gene in a Japanese patient with CADASIL

✍ K. Oki; E. Nagata; A. Ishiko; A. Shimizu; K. Tanaka; K. Takahashi; T. Tabira; T. 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 552 KB

Absence of the OPTN mutation in a patien

Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

✍ P. Corcia; J. Praline; A.M. Guennoc; R.A. Thépault; P.H. Gordon; H. Blasco; C.R. 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 116 KB

A new c.2541delC mutation in the ATP2A2

A new c.2541delC mutation in the ATP2A2 gene in a Japanese patient with Darier's disease

✍ T Hamada; N Ishii; S Fukuda; A Takagi; S Yasumoto; S Ikeda; T Hashimoto 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 525 KB

Novel mutation of the KRT 10 gene in a J

Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis

✍ Teruhiko MAKINO; Megumi FURUICHI; Yukie ASANO; Tadamichi SHIMIZU 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 French ⚖ 264 KB