Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Shiroh MIURA"'
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:
Shiroh Miura, Shigeyoshi Hiruki, Tomohisa Okada, Satoko Itani Takei, Kensuke Senzaki, Yoko Okada, Masayuki Ochi, Yuki Tanabe, Hirofumi Ochi, Michiya Igase, Yasumasa Ohyagi, Hiroki Shibata
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, also known as amyotrophic lateral sclerosis 14, is an autosomal dominant, progressive neurodegenerative disorder caused by various mutations in the valosin-containing protein gene. In th
Externí odkaz:
https://doaj.org/article/81d60f78deb446ce9035b61a01e6f64e
Autor:
Shiroh Miura, Ryusuke Sawada, Akiko Yorita, Hiroshi Kida, Takashi Kamada, Yoshihiro Yamanishi
Publikováno v:
Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract In an open pilot trial, six patients with various hereditary forms of spinocerebellar ataxia (SCA) were assigned to topiramate (50 mg/day) for 24 weeks. Four patients completed the protocol without adverse events. Of these four patients, top
Externí odkaz:
https://doaj.org/article/7953f2e0edcf41089893dae70717983a
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
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Asymptomatic hyper-CK-emia (ASCK) is characterized by persistent elevation of creatine kinase (CK) in serum without any neurological symptoms. We ascertained a two-generation family of ASCK patients without clear neurological abnormalities e
Externí odkaz:
https://doaj.org/article/10cfb46a38294fa2bbfabe4f4ae40c04
Autor:
Takuya Morikawa, Masatomo Takahashi, Yoshihiro Izumi, Takeshi Bamba, Kosei Moriyama, Gohsuke Hattori, Ryuta Fujioka, Shiroh Miura, Hiroki Shibata
Publikováno v:
Biomedicines, Vol 11, Iss 4, p 1092 (2023)
Hereditary spastic paraplegia is a genetic neurological disorder characterized by spasticity of the lower limbs, and spastic paraplegia type 28 is one of its subtypes. Spastic paraplegia type 28 is a hereditary neurogenerative disorder with an autoso
Externí odkaz:
https://doaj.org/article/508eeeb5063f4cd4809863476cf1804c
Autor:
Yuji Akechi, Shiroh Miura, Masayuki Ochi, Moe Enoki, Takuya Matsuda, Riko Kitazawa, Taketsugu Fujibuchi, Hirofumi Ochi, Michiya Igase, Yasumasa Ohyagi
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-4 (2021)
Abstract Background Glomus tumors are soft tissue neoplasms comprised of glomus cells, vasculature, and smooth muscle cells, which occur commonly in a single subungual area of the digits, and their main clinical features include severe paroxysmal pai
Externí odkaz:
https://doaj.org/article/14b7970f87414065b3a065d8957b54c7
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, su
Externí odkaz:
https://doaj.org/article/e920c3d765784b88a2ba7552076bc6b7
Publikováno v:
Clinical Case Reports, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Essential tremor (ET) is one of the most common movement disorders. However, there are currently no accepted biomarkers for ET. This report suggested that concentration of plasma glutamic acid, aspartic acid, and taurine could be biomarkers
Externí odkaz:
https://doaj.org/article/884c1ad6006148658f20bb6bd25d0eca
Publikováno v:
eNeurologicalSci, Vol 23, Iss , Pp 100346- (2021)
Externí odkaz:
https://doaj.org/article/c387bac781b4432a93ee5e766e7f0d5c