Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nari Shiokawa"'
Autor:
Yuka Urata, Masayuki Nakamura, Nari Shiokawa, Aiko Yasuniwa, Nagisa Takamori, Kensuke Imamura, Takehiro Hayashi, Takanori Ishizuka, Motofumi Kasugai, Akira Sano
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1). Mild intellectual defici
Externí odkaz:
https://doaj.org/article/5fb9dbbc9b14498799b56bdd2e76b93b
Autor:
Takehiro Hayashi, Nagisa Takamori, Masayuki Nakamura, Motofumi Kasugai, Nari Shiokawa, Yuka Urata, Takanori Ishizuka, Aiko Yasuniwa, Akira Sano, Kensuke Imamura
Publikováno v:
Frontiers in Neurology
Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology, Vol 11 (2020)
Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1). Mild intellectual defici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3799e9de0967f7291650c15c2d1c40c1
https://doi.org/10.3389/fneur.2020.00012
https://doi.org/10.3389/fneur.2020.00012
Autor:
Saeko Yokotsuka, Masayuki Nakamura, Akira Sano, Takanori Ishizuka, Kazutaka Sainohira, Nari Shiokawa, Motofumi Kasugai, Kaoru Arai, Kentaro Tabata
Publikováno v:
Kyushu Neuropsychiatry. 63:88-93
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa642c8a6ac9f27536512050a6f98e02
https://doi.org/10.11642/kyushuneurop.63.2_88
https://doi.org/10.11642/kyushuneurop.63.2_88
Autor:
Yuka, Urata, Masayuki, Nakamura, Natsuki, Sasaki, Nari, Shiokawa, Yoshiaki, Nishida, Kaoru, Arai, Hanae, Hiwatashi, Izumi, Yokoyama, Shinsuke, Narumi, Yasuo, Terayama, Takenobu, Murakami, Yoshikazu, Ugawa, Hiroki, Sakamoto, Satoshi, Kaneko, Yusuke, Nakazawa, Ryo, Yamasaki, Shoko, Sadashima, Toshiaki, Sakai, Hiroaki, Arai, Akira, Sano
Publikováno v:
Neurology: Genetics
Objective To identify XK pathologic mutations in 6 patients with suspected McLeod syndrome (MLS) and a possible interaction between the chorea-acanthocytosis (ChAc)- and MLS-responsible proteins: chorein and XK protein. Methods Erythrocyte membrane p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a50760b3578700f55aed7d59659fdea
https://pubmed.ncbi.nlm.nih.gov/31086825
https://pubmed.ncbi.nlm.nih.gov/31086825
Autor:
Nari Shiokawa, Masayuki Nakamura, Akira Sano, Yuka Urata, Hitoshi Sakimoto, Omi Nagata, Natsuki Sasaki
Publikováno v:
Biochemical and biophysical research communications. 503(2)
Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis caused by loss-of-function mutations in the Vacuolar Protein Sorting 13 Homolog A (VPS13A) gene, which enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae88b04a64726a222fea5dd2992b4a5
https://pubmed.ncbi.nlm.nih.gov/29928881
https://pubmed.ncbi.nlm.nih.gov/29928881
Autor:
Yusuke Nakazawa, Nari Shiokawa, Yoshiaki Nishida, Yuka Urata, Masayuki Nakamura, Kaoru Arai, Shoko Sadashima, Yoshikazu Ugawa, Natsuki Sasaki, Toshiaki Sakai, Ryo Yamasaki, Hiroki Sakamoto, Izumi Yokoyama, Yasuo Terayama, Shinsuke Narumi, Akira Sano, Takenobu Murakami, Hiroaki Arai, Hanae Hiwatashi, Satoshi Kaneko
Publikováno v:
Neurology Genetics. 5:e328
ObjectiveTo identify XK pathologic mutations in 6 patients with suspected McLeod syndrome (MLS) and a possible interaction between the chorea-acanthocytosis (ChAc)- and MLS-responsible proteins: chorein and XK protein.MethodsErythrocyte membrane prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbdbe3cd8820e6bef1c856ef60648cdd
https://doi.org/10.1212/nxg.0000000000000328
https://doi.org/10.1212/nxg.0000000000000328
Autor:
Akira Sano, Akiko Deguchi, Mieko Sameshima, Natsuki Sasaki, Nari Shiokawa, Takehiro Hayashi, Masayuki Nakamura
Publikováno v:
Biochemical and Biophysical Research Communications. 441:96-101
Chorea-acanthocytosis (ChAc) is an autosomal, recessive hereditary disease characterized by striatal neurodegeneration and acanthocytosis, and caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene. VPS13A enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3edf30e8fce964ac8324d29a25a3f91
https://doi.org/10.1016/j.bbrc.2013.10.011
https://doi.org/10.1016/j.bbrc.2013.10.011
Autor:
Yuka Urata, Masayuki Nakamura, Takehiro Hayashi, Akira Sano, Nari Shiokawa, Natsuki Sasaki, Akiko Kodama
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 30(11)
The autophagy pathway has recently been implicated in several neurodegenerative diseases. Recently, it was reported that chorein-depleted cells showed accumulation of autophagic markers and impaired autophagic flux. Here, we demonstrate that chorein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b785b52ac44a66944dd8c41a75498cbc
https://pubmed.ncbi.nlm.nih.gov/27468757
https://pubmed.ncbi.nlm.nih.gov/27468757
Autor:
Nari Shiokawa, Yoko Tomiyasu, Masayuki Nakamura, Mieko Matsuda, Fujio Umehara, Takehiro Hayashi, Kimiyoshi Arimura, Satsuki Mori, Takanori Ishizuka, Mio Ichiba, Yukie Inamori, Akira Sano, Yuji Okamoto, Yoshiaki Nakabeppu, Akiyuki Tomiyasu, Maiko Kato, Hirochika Shimo
Publikováno v:
Psychiatry and Clinical Neurosciences. 65:105-108
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old fem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74c1215ad4cb912d7de0a700971df9ba
https://doi.org/10.1111/j.1440-1819.2010.02169.x
https://doi.org/10.1111/j.1440-1819.2010.02169.x
Autor:
Takehiro, Hayashi, Masayuki, Nakamura, Mio, Ichiba, Mieko, Matsuda, Maiko, Kato, Nari, Shiokawa, Hirochika, Shimo, Akiyuki, Tomiyasu, Satsuki, Mori, Yoko, Tomiyasu, Takanori, Ishizuka, Yukie, Inamori, Yuji, Okamoto, Fujio, Umehara, Kimiyoshi, Arimura, Yoshiaki, Nakabeppu, Akira, Sano
Publikováno v:
Psychiatry and clinical neurosciences. 65(1)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old fem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9becf1b348bc96c85b6e75bafda9c58e
https://pubmed.ncbi.nlm.nih.gov/21265945
https://pubmed.ncbi.nlm.nih.gov/21265945