Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kazunari Monma"'
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
Autor:
Anna Cho, Ikuya Nonaka, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino, Kazunari Monma, Yasushi Oya
Publikováno v:
Scopus-Elsevier
Background GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fadb9f325e73313ed59e4df07b4e4db
https://doi.org/10.1136/jnnp-2013-305587
https://doi.org/10.1136/jnnp-2013-305587
Autor:
Masahiro Sonoo, Miho Murata, Yasushi Oya, Jun Shimizu, Madoka Mori-Yoshimura, Naoki Suzuki, Kazuma Sugie, Masashi Aoki, Keiko Tanaka, Ichizo Nishino, Yukiko K. Hayashi, May Christine V. Malicdan, Satoru Noguchi, Toshihide Kumamoto, Harumasa Nakamura, Hiroyuki Tomimitsu, Satoshi Nakano, Kazunari Monma
Publikováno v:
Journal of the Neurological Sciences. 318:100-105
Background Glucosamine (UDP-N-acetyl)-2-epimerase/ N -acetylmannosamine kinase (GNE) myopathy, also called distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (HIBM), is a rare, progressive autosomal recessive disorder c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c208cb547ea6ec0c243ab86a18d7a829
https://doi.org/10.1016/j.jns.2012.03.016
https://doi.org/10.1016/j.jns.2012.03.016
Autor:
Hideo Sugie, Yasushi Oya, Tokiko Fukuda, Ichizo Nishino, Kazunari Monma, Rie Tsuburaya, Ikuya Nonaka, Yukiko K. Hayashi, T. Nakayama
Publikováno v:
Neuromuscular disorders : NMD. 22(5)
Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e9c657c9e703073fb5b4bf0a96978b9
https://pubmed.ncbi.nlm.nih.gov/22196155
https://pubmed.ncbi.nlm.nih.gov/22196155
Publikováno v:
Neuromuscular Disorders. 18:802
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23db7d710448a49c32a03edc3e45d6da
https://doi.org/10.1016/j.nmd.2008.06.268
https://doi.org/10.1016/j.nmd.2008.06.268
Autor:
Anna Cho, Hayashi, Yukiko K., Kazunari Monma, Yasushi Oya, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Aug2014, Vol. 85 Issue 8, p912-915, 4p, 1 Color Photograph, 1 Diagram, 2 Charts