Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Emina Watanabe"'
Autor:
Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract 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 hereditary EA. Cerebellar atrophy was not evident, but single photon emission compu
Externí odkaz:
https://doaj.org/article/a1d8e99ecb164101ac3002e4d1d6beab
Autor:
Takuya Morikawa, Shiroh Miura, Luoming Fan, Emina Watanabe, Ryuta Fujioka, Hiromichi Motooka, Shingo Yasumoto, Yusuke Uchiyama, Hiroki Shibata
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract 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 caused by functional variants in the SGCE gene. We examined a Japanese patient wi
Externí odkaz:
https://doaj.org/article/1241a7c11c5b43969a0d66c0cda05e80