Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Ryusuke Takaki"'
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa ty
Externí odkaz:
https://doaj.org/article/3a0726ebaba047179a558007b48386e6
Publikováno v:
Sleep Science, Vol , Iss
We herein describe the cases of two young Japanese adults who presented with excessive daytime sleepiness (EDS). Based on their history, the postprandial nature of the sleepiness was suspected, although the patients themselves were not aware of the a
Externí odkaz:
https://doaj.org/article/fab7eb7042554cea8467376e478e21c8
Autor:
Yoshihisa Takiyama, Takahiro Natori, Mai Tsuchiya, Hiroyuki Kinouchi, Ryusuke Takaki, Mitsuto Hanihara
Publikováno v:
Rinsho Shinkeigaku. 61:733-738
We report here a rare case of adult-onset multiloculated hydrocephalus (MLH) after Cryptococcal meningitis. A 63-year-old man had Cryptococcal ventriculitis in 2011, and he recovered with treatment of antimycotic drugs. However, he was admitted again
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f77c7d894f0da35507519349d9001a47
https://doi.org/10.5692/clinicalneurol.cn-001611
https://doi.org/10.5692/clinicalneurol.cn-001611
Autor:
Shinji Ohara, Kazumasa Shindo, Tetsuhiro Maruyama, Yasuhisa Baba, Haitian Nan, Ryusuke Takaki, Yoshihisa Takiyama
Publikováno v:
Parkinsonism & Related Disorders. 81:28-30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4665bcbbf7c891caf20bf99412c64de3
https://doi.org/10.1016/j.parkreldis.2020.10.006
https://doi.org/10.1016/j.parkreldis.2020.10.006
Autor:
Yoshihisa Takiyama, Kishin Koh, Yuta Ichinose, Keisuke Shimozono, Ryusuke Takaki, Haitian Nan
Publikováno v:
Internal Medicine. 58:2397-2400
Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. We herein report the first Japanese patient with FTDP-17 caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d343ec27f745a662444df711f8241157
https://doi.org/10.2169/internalmedicine.2761-19
https://doi.org/10.2169/internalmedicine.2761-19
Publikováno v:
Journal of human genetics. 66(7)
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs due to pyramidal tract dysfunction. REEP2 mutations have been ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7caed5eb8b6e9acad4fd91bb93b75ff7
https://pubmed.ncbi.nlm.nih.gov/33526816
https://pubmed.ncbi.nlm.nih.gov/33526816
Autor:
Yoshihisa Takiyama, Ryusuke Takaki, Takanori Hata, Yuta Ichinose, Kishin Koh, Haitian Nan, Mai Tsuchiya
Publikováno v:
Journal of the Peripheral Nervous System. 24:156-160
We report the first family with a glycyl-tRNA synthetase (GARS) mutation with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT). The proband and the proband's father presented with gait disturbance and hand weakness. Both patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b3de99ca3d3837afeaf3397e5de7c2d
https://doi.org/10.1111/jns.12289
https://doi.org/10.1111/jns.12289
Autor:
Kishin Koh, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama, Mai Tsuchiya, Ryusuke Takaki, Shuji Hanyu, Yuta Ichinose
Publikováno v:
Journal of the Neurological Sciences. 390:1-3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b27a202dc8fbfcffe409439d9b4deae0
https://doi.org/10.1016/j.jns.2018.03.031
https://doi.org/10.1016/j.jns.2018.03.031
Autor:
Haitian, Nan, Ryusuke, Takaki, Keisuke, Shimozono, Yuta, Ichinose, Kishin, Koh, Yoshihisa, Takiyama
Publikováno v:
Internal Medicine
Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. We herein report the first Japanese patient with FTDP-17 caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2fbd925280b6cbcf8993be146be8949f
https://pubmed.ncbi.nlm.nih.gov/30996196
https://pubmed.ncbi.nlm.nih.gov/30996196
Autor:
Nobuo, Yamashiro, Takamura, Nagasaka, Naoki, Ooishi, Mai, Tsuchiya, Ryusuke, Takaki, Fumikazu, Kobayashi, Kazumasa, Shindo, Yoshihisa, Takiyama
Publikováno v:
Brain and nerve = Shinkei kenkyu no shinpo. 70(3)
We report here the clinical presentation and subsequent autopsy of a 90-year-old man who developed small papules with pain and swelling in his right ear. On admission, he exhibited right facial nerve paralysis, neck stiffness and Kernig's sign. The c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7276367a12653e39721a3665ba5b1911
https://pubmed.ncbi.nlm.nih.gov/29519969
https://pubmed.ncbi.nlm.nih.gov/29519969