Zobrazeno 1 - 8
of 8
pro vyhledávání: '"L. E., Almaguer Mederos"'
Autor:
Nesli-Ece Sen, Claudia Doering, Stéphane Dieterlé, R. Koenig, Suzana Gispert-Sanchez, Júlia Canet-Pons, Frédérique René, N. Hein-Fuchs, Anja Kerksiek, Melanie Vanessa Halbach, Aleksandar Arsovic, Gina Picchiarelli, D. Luetjohann, Jana Key, L.-E. Almaguer-Mederos, Raphaelle Cassel, Luc Dupuis, Georg Auburger
Publikováno v:
Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of Disease, Vol 152, Iss, Pp 105289-(2021)
Neurobiology of Disease, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of disease, 152(2021):105289
Neurobiology of Disease, Elsevier, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of Disease, Vol 152, Iss, Pp 105289-(2021)
Neurobiology of Disease, 2021, 152, pp.105289. ⟨10.1016/j.nbd.2021.105289⟩
Neurobiology of disease, 152(2021):105289
Large polyglutamine expansions in Ataxin-2 (ATXN2) cause multi-system nervous atrophy in Spinocerebellar Ataxia type 2 (SCA2). Intermediate size expansions carry a risk for selective motor neuron degeneration, known as Amyotrophic Lateral Sclerosis (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab6de08db688b0e454f8807b9b1eac19
https://www.hal.inserm.fr/inserm-03376340/file/1-s2.0-S0969996121000383-main.pdf
https://www.hal.inserm.fr/inserm-03376340/file/1-s2.0-S0969996121000383-main.pdf
Autor:
D Cuello-Almarales, Luis Velázquez-Pérez, R Aguilera-Rodríguez, D Almaguer-Gotay, Nieves Santos Falcón, Georg Auburger, L E Almaguer-Mederos, Yanetza González-Zaldivar, J M L Mesa, Susana Gispert
Publikováno v:
Clinical genetics. 94(3-4)
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a cytosine-adenine-guanine (CAG)/cytosine-adenine-adenine (CAA) repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::188b67533ba128d97c4039d5bfa19373
https://pubmed.ncbi.nlm.nih.gov/29756284
https://pubmed.ncbi.nlm.nih.gov/29756284
Autor:
L. E., Almaguer Mederos, D., Almaguer Gotay, Y., González Zaldívar, E., Martínez Góngora, P., Bahr Valcárcel
Publikováno v:
Revista Mexicana de Neurociencia. may/jun2005, Vol. 6 Issue 3, p201-206. 6p.
Autor:
J M, Laffita-Mesa, L E, Almaguer-Mederos, V, Kourí, P O, Bauer, Y, Vázquez-Mojena, T, Cruz Mariño, L, Velázquez-Pérez
Publikováno v:
Clinical genetics. 86(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81198203a92240e2769560090f7ef41e
https://pubmed.ncbi.nlm.nih.gov/23865735
https://pubmed.ncbi.nlm.nih.gov/23865735
Autor:
T, Cruz-Mariño, L, Velázquez-Pérez, Y, González-Zaldivar, R, Aguilera-Rodríguez, M, Velázquez-Santos, Y, Vázquez-Mojena, A, Estupiñán-Rodríguez, J M, Laffita-Mesa, R, Reynaldo-Armiñán, L E, Almaguer-Mederos, M, Paneque
Publikováno v:
Clinical genetics. 83(6)
Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive testing of this condition. Between February 2001 and December 2011, a total of 1050 individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d8fbd6c4d23f35d5a714f0fb5c6d44f
https://pubmed.ncbi.nlm.nih.gov/23495852
https://pubmed.ncbi.nlm.nih.gov/23495852
Autor:
L E, Almaguer-Mederos, R, Aguilera Rodríguez, Y, González Zaldivar, D, Almaguer Gotay, D, Cuello Almarales, J, Laffita Mesa, Y, Vázquez Mojena, P, Zayas Feria, G, Auburger, S, Gispert, L, Velásquez Pérez
Publikováno v:
Clinical genetics. 83(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bc126364e492ac153b545d0209652ef7
https://pubmed.ncbi.nlm.nih.gov/22758789
https://pubmed.ncbi.nlm.nih.gov/22758789
Akademický článek
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Publikováno v:
Revista Mexicana de Neurociencia; may/jun2005, Vol. 6 Issue 3, p207-211, 5p