Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

Hiroshi Doi, Kunihiro Yoshida, Takao Yasuda, Mitsunori Fukuda, Yoko Fukuda, Hiroshi Morita, Shu Ichi Ikeda, Rumiko Kato, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Haruya Sakai, Satoko Miyatake, Masaaki Shiina, Nobuyuki Nukina, Shigeru Koyano, Shoji Tsuji, Yoshiyuki Kuroiwa, Naomichi Matsumoto

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    Medicine & Life Sciences