Showing 1–12 of 12 results
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
- Stephan Züchner
- , Irina V Mersiyanova
- , Maria Muglia
- , Nisrine Bissar-Tadmouri
- , Julie Rochelle
- , Elena L Dadali
- , Mario Zappia
- , Eva Nelis
- , Alessandra Patitucci
- , Jan Senderek
- , Yesim Parman
- , Oleg Evgrafov
- , Peter De Jonghe
- , Yuji Takahashi
- , Shoij Tsuji
- , Margaret A Pericak-Vance
- , Aldo Quattrone
- , Esra Battologlu
- , Alexander V Polyakov
- , Vincent Timmerman
- , J Michael Schröder
- & Jeffery M Vance
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
- Hiroyuki Ishiura
- , Shota Shibata
- , Jun Yoshimura
- , Yuta Suzuki
- , Wei Qu
- , Koichiro Doi
- , M. Asem Almansour
- , Junko Kanda Kikuchi
- , Makiko Taira
- , Jun Mitsui
- , Yuji Takahashi
- , Yaeko Ichikawa
- , Tatsuo Mano
- , Atsushi Iwata
- , Yasuo Harigaya
- , Miho Kawabe Matsukawa
- , Takashi Matsukawa
- , Masaki Tanaka
- , Yuichiro Shirota
- , Ryo Ohtomo
- , Hisatomo Kowa
- , Hidetoshi Date
- , Aki Mitsue
- , Hiroyuki Hatsuta
- , Satoru Morimoto
- , Shigeo Murayama
- , Yasushi Shiio
- , Yuko Saito
- , Akihiko Mitsutake
- , Mizuho Kawai
- , Takuya Sasaki
- , Yusuke Sugiyama
- , Masashi Hamada
- , Gaku Ohtomo
- , Yasuo Terao
- , Yoshihiko Nakazato
- , Akitoshi Takeda
- , Yoshio Sakiyama
- , Yumi Umeda-Kameyama
- , Jun Shinmi
- , Katsuhisa Ogata
- , Yutaka Kohno
- , Shen-Yang Lim
- , Ai Huey Tan
- , Jun Shimizu
- , Jun Goto
- , Ichizo Nishino
- , Tatsushi Toda
- , Shinichi Morishita
- & Shoji Tsuji
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
- Hiroyuki Ishiura
- , Koichiro Doi
- , Jun Mitsui
- , Jun Yoshimura
- , Miho Kawabe Matsukawa
- , Asao Fujiyama
- , Yasuko Toyoshima
- , Akiyoshi Kakita
- , Hitoshi Takahashi
- , Yutaka Suzuki
- , Sumio Sugano
- , Wei Qu
- , Kazuki Ichikawa
- , Hideaki Yurino
- , Koichiro Higasa
- , Shota Shibata
- , Aki Mitsue
- , Masaki Tanaka
- , Yaeko Ichikawa
- , Yuji Takahashi
- , Hidetoshi Date
- , Takashi Matsukawa
- , Junko Kanda
- , Fumiko Kusunoki Nakamoto
- , Mana Higashihara
- , Koji Abe
- , Ryoko Koike
- , Mutsuo Sasagawa
- , Yasuko Kuroha
- , Naoya Hasegawa
- , Norio Kanesawa
- , Takayuki Kondo
- , Takefumi Hitomi
- , Masayoshi Tada
- , Hiroki Takano
- , Yutaka Saito
- , Kazuhiro Sanpei
- , Osamu Onodera
- , Masatoyo Nishizawa
- , Masayuki Nakamura
- , Takeshi Yasuda
- , Yoshio Sakiyama
- , Mieko Otsuka
- , Akira Ueki
- , Ken-ichi Kaida
- , Jun Shimizu
- , Ritsuko Hanajima
- , Toshihiro Hayashi
- , Yasuo Terao
- , Satomi Inomata-Terada
- , Masashi Hamada
- , Yuichiro Shirota
- , Akatsuki Kubota
- , Yoshikazu Ugawa
- , Kishin Koh
- , Yoshihisa Takiyama
- , Natsumi Ohsawa-Yoshida
- , Shoichi Ishiura
- , Ryo Yamasaki
- , Akira Tamaoka
- , Hiroshi Akiyama
- , Taisuke Otsuki
- , Akira Sano
- , Akio Ikeda
- , Jun Goto
- , Shinichi Morishita
- & Shoji Tsuji
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
- Kelly L. Williams
- , Simon Topp
- , Shu Yang
- , Bradley Smith
- , Jennifer A. Fifita
- , Sadaf T. Warraich
- , Katharine Y. Zhang
- , Natalie Farrawell
- , Caroline Vance
- , Xun Hu
- , Alessandra Chesi
- , Claire S. Leblond
- , Albert Lee
- , Stephanie L. Rayner
- , Vinod Sundaramoorthy
- , Carol Dobson-Stone
- , Mark P. Molloy
- , Marka van Blitterswijk
- , Dennis W. Dickson
- , Ronald C. Petersen
- , Neill R. Graff-Radford
- , Bradley F. Boeve
- , Melissa E. Murray
- , Cyril Pottier
- , Emily Don
- , Claire Winnick
- , Emily P. McCann
- , Alison Hogan
- , Hussein Daoud
- , Annie Levert
- , Patrick A. Dion
- , Jun Mitsui
- , Hiroyuki Ishiura
- , Yuji Takahashi
- , Jun Goto
- , Jason Kost
- , Cinzia Gellera
- , Athina Soragia Gkazi
- , Jack Miller
- , Joanne Stockton
- , William S. Brooks
- , Karyn Boundy
- , Meraida Polak
- , José Luis Muñoz-Blanco
- , Jesús Esteban-Pérez
- , Alberto Rábano
- , Orla Hardiman
- , Karen E. Morrison
- , Nicola Ticozzi
- , Vincenzo Silani
- , Jacqueline de Belleroche
- , Jonathan D. Glass
- , John B. J. Kwok
- , Gilles J. Guillemin
- , Roger S. Chung
- , Shoji Tsuji
- , Robert H. Brown Jr
- , Alberto García-Redondo
- , Rosa Rademakers
- , John E. Landers
- , Aaron D. Gitler
- , Guy A. Rouleau
- , Nicholas J. Cole
- , Justin J. Yerbury
- , Julie D. Atkin
- , Christopher E. Shaw
- , Garth A. Nicholson
- & Ian P. Blair
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