Zobrazeno 1 - 10
of 75
pro vyhledávání: '"M J, Sobrido"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
M, Arias, P, Mir, M, Fernández-Matarrubia, J, Arpa, R, García-Ramos, P, Blanco-Arias, B, Quintans, M J, Sobrido
Publikováno v:
Neurología (English Edition). 37:257-262
Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4823b3a7f7ed5369ddd6f13821c9f66f
https://doi.org/10.1016/j.nrleng.2019.01.014
https://doi.org/10.1016/j.nrleng.2019.01.014
Autor:
B Quintans Castro, A. López de Munain, T. Segura Martín, E Cubo Delgado, Ó Ayo Martín, P Mir Rivera, J Pardo Fernández, A Echevarría Íñiguez, A Ávila Rivera, C Fernández Moreno, N Caballol Pons, F.J. Navacerrada Barrero, M.J. Abenza Abildúa, Á Domingo Santos, B Alemany Perna, A. Vadillo Bermejo, E. Martínez Fernández, M. Bártulos Iglesias, I. Rouco Axpe, C Painous Martí, C. González Mingot, J Gascón Bayarri, L Bataller Alberola, E Blanco Vicente, A Carvajal Hernández, I Posada Rodríguez, G Fernández García Eulate, V Vélez Santamaría, M Baraldés Rovira, Josefina Muñoz, A.D. Adarmes Gómez, M J Sobrido Gómez, C Serrano Munuera, F Vázquez Sánchez, C Casasnovas Pons, R. Lobato Rodríguez, M. Palacín Larroy, R Sivera Mascaró, L Rojas Bartolomé, I Infante Ceberio, G. Ortega Suero, J. Gazulla Abio, F.J. Rodriguez de Rivera, C Labandeira Guerra, F Montón Álvarez, M T Casadevall Codina, F.J. Arpa Gutiérrez, E Costa Arpín, I. Sanz Gallego
Publikováno v:
Neurología.
Resume Introduccion Las ataxias (AT) y paraparesias espasticas hereditarias (PEH) son sindromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en Espana en 2019. Pacientes y metodos Estudio transversal, multicentrico,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c67b3244ce6216b777d7d453e2d53b87
https://doi.org/10.1016/j.nrl.2021.01.006
https://doi.org/10.1016/j.nrl.2021.01.006
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
J. R. Davila, M-J Sobrido, Conceição Bettencourt, Orr Shomroni, Marianna R. Bevova, Jose Lopez-Sendon, Beatriz Quintáns, I. Bakker, Peter Heutink, Juan García-Caldentey, J. G. de Yebenes, Patrizia Rizzu
Publikováno v:
Clinical Genetics. 85:154-158
Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52 loci and 31 causative genes have been identified. Although mutations in the SPAST gene explai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0367465a6926369aa65b8f13d5f00d7
https://doi.org/10.1111/cge.12133
https://doi.org/10.1111/cge.12133
Publikováno v:
Neurologia (Barcelona, Spain). 32(6)
To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary ataxia in Galicia (Spain) owing to a founder effect.SCA36 is an autosomal dominant hereditary ataxia with late ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::52dd9e9077454b394b2baefdc856c418
https://pubmed.ncbi.nlm.nih.gov/25593102
https://pubmed.ncbi.nlm.nih.gov/25593102
Autor:
Jerónimo Forteza, J. M. Suarez-Peñaranda, M. Vazquez-Salvado, F. Barros, C. Rodriguez-Pereira, M. J. Sobrido
Publikováno v:
Archives of Pathology & Laboratory Medicine. 125:218-223
Background.—p53 mutations and immunoreactivity have been described in human gliomas. During the past few years, some authors have found bcl-2 overexpression in astrocytomas, although their correlation with histological grade is a matter of disagree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5e820b767adb2d815aa376049ed0dcb
https://doi.org/10.5858/2001-125-0218-aoafig
https://doi.org/10.5858/2001-125-0218-aoafig
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
C, Bettencourt, J L, López-Sendón, J, García-Caldentey, P, Rizzu, I M C, Bakker, O, Shomroni, B, Quintáns, J R, Dávila, M R, Bevova, M-J, Sobrido, P, Heutink, J G, de Yébenes
Publikováno v:
Clinical genetics. 85(2)
Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52 loci and 31 causative genes have been identified. Although mutations in the SPAST gene explai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::684f3c8a91734a67454fb74017b4b09c
https://pubmed.ncbi.nlm.nih.gov/23438842
https://pubmed.ncbi.nlm.nih.gov/23438842
Autor:
B, Pilo-de-la-Fuente, A, Jimenez-Escrig, J R, Lorenzo, J, Pardo, M, Arias, A, Ares-Luque, J, Duarte, S, Muñiz-Pérez, M J, Sobrido
Publikováno v:
European journal of neurology. 18(10)
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene resulting in sterol-27-hydroxylase deficiency. Current information about CTX is based mainly on case reports, with only few large seri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2981faf8660d675039907b9f3ea7ddd4
https://pubmed.ncbi.nlm.nih.gov/21645175
https://pubmed.ncbi.nlm.nih.gov/21645175