A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

Toshitaka Kawarai; Atsushi Tajima; Yukiko Kuroda; Naoki Saji; Antonio Orlacchio; Hideo Terasawa; Hirotaka Shimizu; Yasushi Kita; Yuishin Izumi; Takao Mitsui; Issei Imoto; Ryuji Kaji

doi:10.1136/jnnp-2014-309828

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Neurogenetics

Research paper

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

Authors

Toshitaka Kawarai Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan PubMed articles Google scholar articles
Atsushi Tajima Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan Department of Bioinformatics and Genomics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan PubMed articles Google scholar articles
Yukiko Kuroda Department of Clinical Research, Tokushima National Hospital, National Hospital Organization, Tokushima, Japan PubMed articles Google scholar articles
Naoki Saji Department of Stroke Medicine, Kawasaki Medical School, Kurashiki, Okayama, Japan PubMed articles Google scholar articles
Antonio Orlacchio Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy Dipartimento di Medicina dei Sistemi, Università di Roma “Tor Vergata”, Rome, Italy PubMed articles Google scholar articles
Hideo Terasawa Department of Neurology, Hyogo Brain and Heart Centre, Himeji City, Hyogo, Japan PubMed articles Google scholar articles
Hirotaka Shimizu Department of Neurology, Hyogo Brain and Heart Centre, Himeji City, Hyogo, Japan PubMed articles Google scholar articles
Yasushi Kita Department of Neurology, Hyogo Brain and Heart Centre, Himeji City, Hyogo, Japan PubMed articles Google scholar articles
Yuishin Izumi Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan PubMed articles Google scholar articles
Takao Mitsui Department of Clinical Research, Tokushima National Hospital, National Hospital Organization, Tokushima, Japan PubMed articles Google scholar articles
Issei Imoto Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan PubMed articles Google scholar articles
Ryuji Kaji Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan PubMed articles Google scholar articles

Correspondence to Dr Toshitaka Kawarai, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Tokushima 770-8503, Japan; tkawarai{at}tokushima-u.ac.jp

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Citation

Kawarai T, Tajima A, Kuroda Y, et al

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

Journal of Neurology, Neurosurgery & Psychiatry 2016;87:656-662.

Publication history

Received October 30, 2014
Revised May 15, 2015
Accepted June 15, 2015
First published July 8, 2015.

Online issue publication

May 13, 2016

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