Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kei, Kasamo"'
Autor:
Masayuki Nakamura, Kei Kasamo
Publikováno v:
Neuroscience Research. 160:67-68
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e604feb76954d953934ed3e7f7b61042
https://doi.org/10.1016/j.neures.2020.07.009
https://doi.org/10.1016/j.neures.2020.07.009
Publikováno v:
Neuroscience research. 157
Chronic progressive external ophthalmoplegia (CPEO) is one of the most common mitochondrial disorders. It is characterized by bilateral, slowly progressing loss of extraocular muscle mobility, orbicularis oculi weakness, ptosis, and other neuromuscul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76bbec5862971bf453b611d708839201
https://pubmed.ncbi.nlm.nih.gov/31348995
https://pubmed.ncbi.nlm.nih.gov/31348995
Autor:
Yoshiaki, Nishida, Masayuki, Nakamura, Yuka, Urata, Kei, Kasamo, Hanae, Hiwatashi, Izumi, Yokoyama, Masahiro, Mizobuchi, Kotaro, Sakurai, Yasushi, Osaki, Yukari, Morita, Masako, Watanabe, Kenji, Yoshida, Kiyomi, Yamane, Natsuki, Miyakoshi, Ryouichi, Okiyama, Takehiro, Ueda, Noritaka, Wakasugi, Yuji, Saitoh, Takashi, Sakamoto, Yuji, Takahashi, Ken, Shibano, Hideki, Tokuoka, Atsushi, Hara, Kazunari, Monma, Katsuhisa, Ogata, Keita, Kakuda, Hideki, Mochizuki, Takeo, Arai, Manabu, Araki, Takeshi, Fujii, Kazuto, Tsukita, Haruhi, Sakamaki-Tsukita, Akira, Sano
Publikováno v:
Neurology: Genetics
Objective To identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc). Methods We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73304f1eea3a125cb07b05e3aa847e05
https://pubmed.ncbi.nlm.nih.gov/31192303
https://pubmed.ncbi.nlm.nih.gov/31192303
Autor:
Masako Watanabe, Kenji Yoshida, Kazuto Tsukita, Noritaka Wakasugi, Hideki Mochizuki, Ryouichi Okiyama, Yasushi Osaki, Atsushi Hara, Kiyomi Yamane, Katsuhisa Ogata, Kotaro Sakurai, Kei Kasamo, Yuka Urata, Kazunari Monma, Ken Shibano, Yukari Morita, Takehiro Ueda, Yuji Saitoh, Hanae Hiwatashi, Manabu Araki, Yuji Takahashi, Natsuki Miyakoshi, Masahiro Mizobuchi, Keita Kakuda, Akira Sano, Masayuki Nakamura, Haruhi Sakamaki-Tsukita, Takashi Sakamoto, Takeo Arai, Yoshiaki Nishida, Izumi Yokoyama, Takeshi Fujii, Hideki Tokuoka
Publikováno v:
Neurology Genetics. 5(3):e332-e332
ObjectiveTo identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc).MethodsWe performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a51e7aaa2b19ba7c02f702d9d25c2ea2
https://hdl.handle.net/20.500.14094/90006874
https://hdl.handle.net/20.500.14094/90006874