Zobrazeno 1 - 10
of 720
pro vyhledávání: '"Alternating hemiplegia of childhood"'
Autor:
Jamir Pitton Rissardo, Nilofar Murtaza Vora, Yogendra Singh, Sweta Kishore, Ana Letícia Fornari Caprara
Publikováno v:
Rambam Maimonides Medical Journal, Vol 15, Iss 3, p e0015 (2024)
Alternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age. Mutations in the ATP1A3 gene, mainly p.
Externí odkaz:
https://doaj.org/article/718b9f7f70ed432f81ff06d1d6fe2a43
Autor:
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Hong Li, Fan Lin, Jie-wei Luo, Xin-fu Lin
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionWe previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family. This study aims to investigate the function of ATP
Externí odkaz:
https://doaj.org/article/b8b9f5986ee64684bea9685de8309e9d
Autor:
Fumihiko Fujii, Hikaru Kanemasa, Sayaka Okuzono, Daiki Setoyama, Ryoji Taira, Kousuke Yonemoto, Yoshitomo Motomura, Hiroki Kato, Keiji Masuda, Takahiro A. Kato, Shouichi Ohga, Yasunari Sakai
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/3472d26e58c74f6cb7b572ff8411a0fa
Publikováno v:
Pediatria Polska, Vol 98, Iss 3, Pp 258-263 (2023)
Alternating hemiplegia of childhood (AHC) is characterized by recurrent hemiplegic episodes and paroxysmal disorders, dystonia, nystagmus, epileptic seizure, mental retardation, and intellectual impairment. Alternating hemiplegia of childhood is caus
Externí odkaz:
https://doaj.org/article/975eb3354dec4bedbadbf1ea59d2b514
Autor:
Hainque, Elodie1,2,3 ehainque@gmail.com, Caillet, Samantha4, Leroy, Sandrine5, Flamand-Roze, Constance6,7, Adanyeguh, Isaac1, Charbonnier-Beaupel, Fanny8, Retail, Maryvonne3, Le Toullec, Benjamin3, Atencio, Mariana1, Rivaud-Péchoux, Sophie1, Brochard, Vanessa3, Habarou, Florence9, Ottolenghi, Chris9, Cormier, Florence1,2,3, Méneret, Aurélie1,2, Ruiz, Marta1,2, Doulazmi, Mohamed10, Roubergue, Anne11, Corvol, Jean-Christophe1,2,3, Vidailhet, Marie1,2,3
Publikováno v:
Orphanet Journal of Rare Diseases. 10/2/2017, Vol. 12, p1-7. 7p.
Autor:
Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7‐year‐old boy with hypotonia, global
Externí odkaz:
https://doaj.org/article/546c32499e404c419a93523af25faa20
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:
Weller, Claudia M1, Vries, Boukje de1, Geilenkirchen, Marije A1, Terwindt, Gisela M2, Leen, Wilhelmina G3, Neville, Brian GR3, Duncan, John S3, Haan, Joost3, Kamsteeg, Erik-Jan3, Scheffer, Hans3, Ferrari, Michel D3, Maagdenberg, Arn MJM van den3, Willemsen, Michèl AAP3
Publikováno v:
Cephalalgia. Jan2015, Vol. 35 Issue 1, p10-15. 6p.
Autor:
Kirshenbaum, Greer S.1,2, Dawson, Neil3, Mullins, Jonathan G. L.4, Johnston, Tom H.5, Drinkhill, Mark J.6, Edwards, Ian J.7, Fox, Susan H.5, Pratt, Judith A.3, Brotchie, Jonathan M.5, Roder, John C.1,2, Clapcote, Steven J.7 s.j.clapcote@leeds.ac.uk
Publikováno v:
PLoS ONE. Mar2013, Vol. 8 Issue 3, p1-15. 15p.