Search Results - "Watanabe, Emina"

A Japanese family with dystonia due to a pathogenic variant in SGCE by Morikawa, Takuya, Miura, Shiroh, Fan, Luoming, Watanabe, Emina, Fujioka, Ryuta, Motooka, Hiromichi, Yasumoto, Shingo, Uchiyama, Yusuke, Shibata, Hiroki

“…Dystonia (DYT) is a heterogeneous neurological disorder, and there are many types of DYT depending on the responsible genes. DYT11 is an autosomal dominant DYT…”
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Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A by Miura, Shiroh, Watanabe, Emina, Senzaki, Kensuke, Hiruki, Shigeyoshi, Matsumoto, Sayaka, Morikawa, Takuya, Uchiyama, Yusuke, Kurata, Seiji, Ochi, Masayuki, Ohyagi, Yasumasa, Shibata, Hiroki

“…Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A . We examined a 20-year-old male with EA symptoms from a Japanese family with…”
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