Zobrazeno 1 - 10
of 110
pro vyhledávání: '"e815k"'
Autor:
Ashley R. Helseth, Arsen S. Hunanyan, Syed Adil, Molly Linabarger, Monisha Sachdev, Elie Abdelnour, Eric Arehart, Marlee Szabo, Jordan Richardson, William C. Wetsel, Ute Hochgeschwender, Mohamad A. Mikati
Publikováno v:
Neurobiology of Disease, Vol 119, Iss , Pp 100-112 (2018)
De novo mutations causing dysfunction of the ATP1A3 gene, which encodes the α3 subunit of Na+/K+-ATPase pump expressed in neurons, result in alternating hemiplegia of childhood (AHC). AHC manifests as paroxysmal episodes of hemiplegia, dystonia, beh
Externí odkaz:
https://doaj.org/article/66f13110be214ed7ba820e4483357442
Akademický článek
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Autor:
Eric Arehart, Monisha Sachdev, Molly Linabarger, Syed M Adil, Ute Hochgeschwender, Jordan Richardson, Ashley Helseth, Elie Abdelnour, William C. Wetsel, Arsen S. Hunanyan, Marlee Szabo, Mohamad A. Mikati
Publikováno v:
Neurobiology of Disease, Vol 119, Iss, Pp 100-112 (2018)
De novo mutations causing dysfunction of the ATP1A3 gene, which encodes the α3 subunit of Na+/K+-ATPase pump expressed in neurons, result in alternating hemiplegia of childhood (AHC). AHC manifests as paroxysmal episodes of hemiplegia, dystonia, beh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d262c1fdc5ce01b722bb1817a4e01aae
http://www.sciencedirect.com/science/article/pii/S0969996118303504
http://www.sciencedirect.com/science/article/pii/S0969996118303504
Autor:
Kusunoki, Shouichirou1 (AUTHOR), Kido, Jun1 (AUTHOR), Momosaki, Ken1 (AUTHOR), Sawada, Takaaki1 (AUTHOR), Kashiki, Tomoko1 (AUTHOR), Matsumoto, Shirou1 (AUTHOR), Nakamura, Kimitoshi1 (AUTHOR)
Publikováno v:
Case Reports in Neurology. 2020, Vol. 12 Issue 3, p299-306. 8p.
Autor:
Shouichirou Kusunoki, Jun Kido, Ken Momosaki, Takaaki Sawada, Tomoko Kashiki, Shirou Matsumoto, Kimitoshi Nakamura
Publikováno v:
Case Reports in Neurology, Vol 12, Iss 3, Pp 299-306 (2020)
Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing par
Externí odkaz:
https://doaj.org/article/4ba39fbc37914b10b98b37a1d7e77a1c
Autor:
Takaaki Sawada, Kimitoshi Nakamura, Tomoko Kashiki, Ken Momosaki, Shirou Matsumoto, Shouichirou Kusunoki, Jun Kido
Publikováno v:
Case Reports in Neurology
Case Reports in Neurology, Vol 12, Iss 3, Pp 299-306 (2020)
Case Reports in Neurology, Vol 12, Iss 3, Pp 299-306 (2020)
Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee5204014bc9d9147dac25afe2f01aaa
https://doi.org/10.1159/000509287
https://doi.org/10.1159/000509287
Autor:
Viollet, Louis1, Glusman, Gustavo2, Murphy, Kelley J.1, Newcomb, Tara M.1, Reyna, Sandra P.1, Sweney, Matthew1, Nelson, Benjamin1, Andermann, Frederick3, Andermann, Eva3, Acsadi, Gyula4, Barbano, Richard L.5, Brown, Candida6, Brunkow, Mary E.2, Chugani, Harry T.7, Cheyette, Sarah R.8, Collins, Abigail9, DeBrosse, Suzanne D.10, Galas, David11, Friedman, Jennifer12, Hood, Lee2
Publikováno v:
PLoS ONE. May2015, Vol. 10 Issue 5, p1-14. 14p.
Autor:
Ishii, Atsushi1,2, Saito, Yoshiaki3, Mitsui, Jun4, Ishiura, Hiroyuki4, Yoshimura, Jun5, Arai, Hidee6, Yamashita, Sumimasa7, Kimura, Sadami8, Oguni, Hirokazu9, Morishita, Shinichi5, Tsuji, Shoji4, Sasaki, Masayuki3, Hirose, Shinichi1,2 hirose@fukuoka-u.ac.jp
Publikováno v:
PLoS ONE. Feb2013, Vol. 8 Issue 2, p1-8. 8p.
Autor:
Yang, Xiaoling1, Gao, Hua2, Zhang, Jie3, Xu, Xiaojing1, Liu, Xiaoyan1, Wu, Xiru1, Wei, Liping2,3 weilp@mail.cbi.pku.edu.cn, Zhang, Yuehua1 zhangyhd@hotmail.com
Publikováno v:
PLoS ONE. May2014, Vol. 9 Issue 5, p1-12. 12p.
Autor:
Rissardo, Jamir Pitton1 (AUTHOR) jamirrissardo@gmail.com, Vora, Nilofar Murtaza2 (AUTHOR), Singh, Yogendra2 (AUTHOR), Kishore, Sweta2 (AUTHOR), Caprara, Ana Letícia Fornari3 (AUTHOR)
Publikováno v:
Rambam Maimonides Medical Journal. Jul2024, Vol. 15 Issue 3, p1-22. 22p.