Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Yosuke, Kokunai"'
Autor:
Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W. Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S. Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P. Takahashi, Nicolas Charlet-Berguerand
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al. show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternat
Externí odkaz:
https://doaj.org/article/72afc8d9128643c28fcf74d35cc00642
Autor:
Damien Sternberg, Maki Nakaza, Tatsuya Abe, Masanori P. Takahashi, Bertrand Fontaine, Daisuke Watanabe, Stephen C. Cannon, Fenfen Wu, Norito Kokubun, Yosuke Kokunai, Mitsuru Furuta, Tomoya Kubota, Savine Vicart
Publikováno v:
Brain Communications
Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2021, 2 (2), ⟨10.1093/braincomms/fcaa103⟩
Brain Communications, 2021, 2 (2), ⟨10.1093/braincomms/fcaa103⟩
Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2021, 2 (2), ⟨10.1093/braincomms/fcaa103⟩
Brain Communications, 2021, 2 (2), ⟨10.1093/braincomms/fcaa103⟩
Familial hypokalaemic periodic paralysis is a rare skeletal muscle disease caused by the dysregulation of sarcolemmal excitability. Hypokalaemic periodic paralysis is characterized by repeated episodes of paralytic attacks with hypokalaemia, and seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8bf78870df1435c217b8e950b24ea6e
https://pubmed.ncbi.nlm.nih.gov/33005891
https://pubmed.ncbi.nlm.nih.gov/33005891
Autor:
Shigehisa Mitake, Hiroyuki Yuasa, Tomomasa Ikeda, Carine Dalle, Masanori P. Takahashi, Hideki Mochizuki, Yosuke Kokunai, Yuto Uchida, Bertrand Fontaine, Tomoya Kubota, Hideki Kato, Yuta Madokoro, Sophie Nicole
Publikováno v:
Journal of the Neurological Sciences. 369:254-258
Non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (CLCN1) or sodium channel (SCN4A) gene. They exhibit several distinct phenotypes, including myotonia congenita, paramyotonia congenita and sodium channel myotonia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c570207669fcc0efc33957f79f258d4
https://doi.org/10.1016/j.jns.2016.08.030
https://doi.org/10.1016/j.jns.2016.08.030
Autor:
Yosuke, Kokunai, Carine, Dalle, Savine, Vicart, Damien, Sternberg, Valérie, Pouliot, Said, Bendahhou, Emmanuel, Fournier, Mohamed, Chahine, Bertrand, Fontaine, Sophie, Nicole
Publikováno v:
Scientific Reports
Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited form of hyperPP is caused by overactivity of Nav1.4 — the s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f27b51a6cef510ee2e2cb0921a11ed48
https://pubmed.ncbi.nlm.nih.gov/30420713
https://pubmed.ncbi.nlm.nih.gov/30420713
Autor:
Tsuyoshi Matsumura, Masanori P. Takahashi, Harutoshi Fujimura, Hideki Mochizuki, Yosuke Kokunai, Takashi Kimura, Katsuhisa Ogata, Saburo Sakoda, Masayuki Nakamori
Publikováno v:
Neurology and Clinical Neuroscience. 2:97-103
Background and Aim Myotonic dystrophy type 1 (DM1) is a multisystemic disease, and patients often visit a variety of specialists before being correctly diagnosed. Identifying DM1 is not an easy task, particularly for non-neurologists. We tried to dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76b63618dd2f2c95d821002931647659
https://doi.org/10.1111/ncn3.93
https://doi.org/10.1111/ncn3.93
Autor:
Didier Auboeuf, Masayuki Nakamori, Fernande Freyermuth, Chantal Sellier, Arnaud Jollet, Yosuke Kokunai, Muriel Philipps, Nicolas Charlet-Berguerand, Yoshihiro Kino, Amandine Campan-Fournier, Masanori P. Takahashi, John W. Day, Takashi Kimura, Denis Duboc, Kuang-Yung Lee, Shoichi Ishiura, Vincent Lacroix, Eric T. Wang, Harutoshi Fujimura, Shin Inada, Takashi Ashihara, Vincent Navratil, Bernard Jost, Thomas Zimmer, Hideki Mochizuki, Thomas Linke, Ludovic Arandel, Adolfo López de Munain, Maurice S. Swanson, Kazuo Nakazawa, Nobuyuki Nukina, Karim Wahbi, Emilie Chautard, Serge Vicaire, Hideki Itoh, Frédérique Rau, Denis Furling, Keiji Imoto, Christelle Thibault, François Deryckere, Tsuyoshi Matsumura, Bjarne Udd, Minoru Horie
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2016, 7, pp.11067. ⟨10.1038/ncomms11067⟩
Nature Communications, 2016, 7, pp.11067. ⟨10.1038/ncomms11067⟩
Nature Communications, Nature Publishing Group, 2016, 7 (1), ⟨10.1038/ncomms11067⟩
Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Nature Communications, Nature Publishing Group, 2016, 7, <10.1038/ncomms11067>
Nature Communications, Nature Publishing Group, 2016, 7, pp.11067. ⟨10.1038/ncomms11067⟩
Nature Communications, 2016, 7, pp.11067. ⟨10.1038/ncomms11067⟩
Nature Communications, Nature Publishing Group, 2016, 7 (1), ⟨10.1038/ncomms11067⟩
Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Nature Communications, Nature Publishing Group, 2016, 7, <10.1038/ncomms11067>
Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4971af93611524cd46e81663a351134e
https://hal.sorbonne-universite.fr/hal-01301863/document
https://hal.sorbonne-universite.fr/hal-01301863/document
Autor:
Damien Sternberg, Carine Dalle, Savine Vicart, Sophie Nicole, Bertrand Fontaine, Yosuke Kokunai
Publikováno v:
Journal of the Neurological Sciences. 381:659-660
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9bc4c8c9fd14896db51e134de4d155cc
https://doi.org/10.1016/j.jns.2017.08.1856
https://doi.org/10.1016/j.jns.2017.08.1856
Autor:
Ichizo Nishino, Takashi Kimura, Adrian R. Krainer, Yosuke Kokunai, Masanori P. Takahashi, Xavier Roca, Saburo Sakoda, Tomoya Kubota
Publikováno v:
Human Mutation. 32:773-782
Many mutations in the skeletal-muscle sodium-channel gene SCN4A have been associated with myotonia and/or periodic paralysis, but so far all of these mutations are located in exons. We found a patient with myotonia caused by a deletion/insertion loca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d62d4cab7247545e4b28d8314aaccb5
https://doi.org/10.1002/humu.21501
https://doi.org/10.1002/humu.21501
Publikováno v:
Rinsho Shinkeigaku. 51:192-196
We treated a 25-year-old woman with encephalitis. Following delivery, the patient developed fever, consciousness disturbance, cognitive dysfunction, and progressive motor dysfunction. In addition, mycobacterium tuberculosis was found in the lung, tho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3239066bceeb6beb316b30f4370d1357
https://doi.org/10.5692/clinicalneurol.51.192
https://doi.org/10.5692/clinicalneurol.51.192
Autor:
Masanori P. Takahashi, Damien Sternberg, Tomoya Kubota, Savine Vicart, Norito Kokubun, Bertrand Fontaine, Mitsuru Furuta, Yosuke Kokunai, Maki Nakaza, Daisuke Watanabe, Tatsuya Abe
Publikováno v:
Biophysical Journal. 114:636a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42aabc8ba67bb569d673835e80c37172
https://doi.org/10.1016/j.bpj.2017.11.3435
https://doi.org/10.1016/j.bpj.2017.11.3435