Zobrazeno 1 - 10
of 50
pro vyhledávání: '"p.Glu815*"'
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.
Publikováno v:
The Application of Clinical Genetics, Vol 2016, Iss Issue 1, Pp 33-38 (2016)
Karen Sánchez,1 Elizabeth de Mendonca,1 Xiorama Matute,2 Ismenia Chaustre,2 Marlene Villalón,3 Howard Takiff4 1Unit of Genetic and Forensic Studies, Venezuelan Institute for Scientific Research (IVIC), 2Hospital JM de los Ríos, 3Hospital José Ign
Externí odkaz:
https://doaj.org/article/fe820c026ed0458384ece5f972457d88
Autor:
Karen Sánchez, Howard Takiff, Xiorama Matute, Marlene Villalón, Ismenia Chaustre, Elizabeth de Mendonca
Publikováno v:
The Application of Clinical Genetics
Karen Sánchez,1 Elizabeth de Mendonca,1 Xiorama Matute,2 Ismenia Chaustre,2 Marlene Villalón,3 Howard Takiff4 1Unit of Genetic and Forensic Studies, Venezuelan Institute for Scientific Research (IVIC), 2Hospital JM de los Ríos, 3Hospital José Ign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b74445c6d3aafa63dda149fc17babce
https://pubmed.ncbi.nlm.nih.gov/27022295
https://pubmed.ncbi.nlm.nih.gov/27022295
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:
Panagiotakaki, Eleni1 eleni.panagiotakaki@chu-lyon.fr, De Grandis, Elisa2, Stagnaro, Michela2, Heinzen, Erin L.3,4, Fons, Carmen5, Sisodiya, Sanjay6, de Vries, Boukje7, Goubau, Christophe8, Weckhuysen, Sarah9, Kemlink, David10, Scheffer, Ingrid11,12, Lesca, Gaëtan13,14, Rabilloud, Muriel15, Klich, Amna15, Ramirez-Camacho, Alia1,5, Ulate-Campos, Adriana5, Campistol, Jaume5, Giannotta, Melania16, Moutard, Marie-Laure17, Doummar, Diane17
Publikováno v:
Orphanet Journal of Rare Diseases. 9/27/2015, Vol. 10 Issue 1, p1-13. 13p.
Autor:
Cordani, Ramona, Stagnaro, Michela, Pisciotta, Livia, Tiziano, Francesco Danilo, Calevo, Maria Grazia, Nobili, Lino, De Grandis, Elisa
Publikováno v:
Frontiers in Neurology; 4/8/2021, Vol. 11, pN.PAG-N.PAG, 8p
Publikováno v:
Application of Clinical Genetics; Mar2020, Vol. 13, p71-81, 11p
Autor:
Huang, Dishu1,2,3,4,5, Song, Xiaojie1,2,3,4,5, Ma, Jiannan1,2,3,4,5, Li, Xiujuan1,2,3,4,5, Guo, Yi1,2,3,4,5, Li, Mei1,2,3,4,5, Luo, Hanyu1,2,3,4,5, Fang, Zhixu1,2,3,4,5, Yang, Chen1,2,3,4,5, Xie, Lingling1,2,3,4,5 lingling_xie@hospital.cqmu.edu.cn, Jiang, Li1,2,3,4,5 dr_jiangcqmu@163.com
Publikováno v:
European Journal of Pediatrics. Feb2023, Vol. 182 Issue 2, p825-836. 12p. 3 Diagrams, 3 Charts.
Autor:
Muthaffar, Osama Y., Alqarni, Asma, Shafei, Jumana A., Bahowarth, Sarah Y., Alyazidi, Anas S., Naseer, Muhammad Imran
Publikováno v:
Genes & Genomics; Apr2024, Vol. 46 Issue 4, p475-487, 13p
Autor:
Ramona Cordani, Michela Stagnaro, Livia Pisciotta, Francesco Danilo Tiziano, Maria Grazia Calevo, Lino Nobili, I.B.AHC Consortium, Elisa De Grandis
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Alternating hemiplegia of childhood is a rare neurological disease characterized by paroxysmal movement disorders and chronic neurological disturbances, with onset before 18 months of age. Mutations in the ATP1A3 gene have been identified in up to 80
Externí odkaz:
https://doaj.org/article/a03e0057f8434c2c93956342d0d78c13