Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Keisuke, Shimozono"'
Autor:
Keisuke Shimozono, Haitian Nan, Takanori Hata, Kozo Saito, Yeon-Jeong Kim, Hiroaki Nagatomo, Toshihisa Ohtsuka, Schuichi Koizumi, Yoshihisa Takiyama
Publikováno v:
Journal of Human Genetics. 67:679-686
SPG80 is a neurodegenerative disorder characterized by a pure type of juvenile-onset hereditary spastic paraplegia and is caused by a heterozygous mutation of the UBAP1 (ubiquitin-associated protein 1) gene. UBAP1 is one of the subunits of the endoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371769b47e712db1bb5438276e6e3f4f
https://doi.org/10.1038/s10038-022-01073-6
https://doi.org/10.1038/s10038-022-01073-6
Autor:
Yuta Ichinose, Yoshihisa Takiyama, Andrea Cortese, Mai Tsuchiya, Keisuke Shimozono, Toshihisa Ohtsuka, Yeon-Jeong Kim, Kishin Koh, Haitian Nan, Takanori Hata, Lihua Gao
Publikováno v:
Journal of Human Genetics. 65:1143-1147
Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 (RFC1) gene was reported to cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In Europeans, the expansion accounted for 22% of sporad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50605806ceddb7db8024cd1f3af45462
https://doi.org/10.1038/s10038-020-0807-x
https://doi.org/10.1038/s10038-020-0807-x
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
Autor:
Masaki Hiraide, Keisuke Shimozono, Yuta Ichinose, Mai Tsuchiya, Yoshihisa Takiyama, Kishin Koh, Haitian Nan
Publikováno v:
Internal Medicine. 58:719-722
SPG5 is a rare subtype of autosomal recessive hereditary spastic paraplegia caused by a homozygous mutation in the oxysterol 7α-hydroxylase gene, CYP7B1. We describe the first Japanese patient with SPG5 with a novel mutation in the CYP7B1 gene. On e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f27a644d55aca8b155e62728996b99ad
https://doi.org/10.2169/internalmedicine.1839-18
https://doi.org/10.2169/internalmedicine.1839-18
Autor:
Mai, Tsuchiya, Haitian, Nan, Kishin, Koh, Yuta, Ichinose, Lihua, Gao, Keisuke, Shimozono, Takanori, Hata, Yeon-Jeong, Kim, Toshihisa, Ohtsuka, Andrea, Cortese, Yoshihisa, Takiyama
Publikováno v:
Journal of human genetics. 65(12)
Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 (RFC1) gene was reported to cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In Europeans, the expansion accounted for 22% of sporad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37494cf731646d510d9d4d3f4914cddb
https://pubmed.ncbi.nlm.nih.gov/32694621
https://pubmed.ncbi.nlm.nih.gov/32694621
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:
Haitian, Nan, Keisuke, Shimozono, Yuta, Ichinose, Mai, Tsuchiya, Kishin, Koh, Masaki, Hiraide, Yoshihisa, Takiyama
Publikováno v:
Internal Medicine
SPG5 is a rare subtype of autosomal recessive hereditary spastic paraplegia caused by a homozygous mutation in the oxysterol 7α-hydroxylase gene, CYP7B1. We describe the first Japanese patient with SPG5 with a novel mutation in the CYP7B1 gene. On e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b538ed9c4969e35028f70af5c1650afc
https://pubmed.ncbi.nlm.nih.gov/30333426
https://pubmed.ncbi.nlm.nih.gov/30333426