Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Beatriz Quintáns"'
Autor:
Anxo Manuel Minguillón Pereiro, Beatriz Quintáns Castro, Alberto Ouro Villasante, José Manuel Aldrey Vázquez, Julia Cortés Hernández, Marta Aramburu-Núñez, Manuel Arias Gómez, Isabel Jiménez Martín, Tomás Sobrino, Juan Manuel Pías-Peleteiro
Publikováno v:
Biomedicines, Vol 12, Iss 8, p 1881 (2024)
Background: Monogenic Alzheimer’s disease (AD) has severe health and socioeconomic repercussions. Its rarest cause is presenilin 2 (PSEN2) gene mutations. We present two new cases with presumed PSEN2-AD with unusual clinical and neuroimaging findin
Externí odkaz:
https://doaj.org/article/76985eca25c14df980206ab1554793b7
Autor:
Vanesa Álvarez-Iglesias, Ana Mosquera-Miguel, Maria Cerezo, Beatriz Quintáns, Maria Teresa Zarrabeitia, Ivon Cuscó, Maria Victoria Lareu, Óscar García, Luis Pérez-Jurado, Ángel Carracedo, Antonio Salas
Publikováno v:
PLoS ONE, Vol 5, Iss 4 (2010)
Externí odkaz:
https://doaj.org/article/6973e923b054400e90f39c5525fffc68
Autor:
Vanesa Alvarez-Iglesias, Ana Mosquera-Miguel, Maria Cerezo, Beatriz Quintáns, Maria Teresa Zarrabeitia, Ivon Cuscó, Maria Victoria Lareu, Oscar García, Luis Pérez-Jurado, Angel Carracedo, Antonio Salas
Publikováno v:
PLoS ONE, Vol 4, Iss 4, p e5112 (2009)
BackgroundR0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (approximately 40%). R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymor
Externí odkaz:
https://doaj.org/article/718166ff36704c919ff1b423ad6b10de
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
P. Mir, María-Jesús Sobrido, Marta Fernández-Matarrubia, P. Blanco-Arias, Rocío García-Ramos, Beatriz Quintáns, J. Arpa, Manuel Arias
Publikováno v:
Neurología. 37:257-262
Resumen Introduccion La ARCA1/SCAR8 es una heredoataxia recesiva causada por mutaciones en el gen SYNE1, que fue descrita inicialmente en familias francocanadienses (Quebec) con un sindrome cerebeloso puro. En la actualidad se reporta cada vez mas es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e75b702041f0f8a9b4d9d6c022d3a9a
https://doi.org/10.1016/j.nrl.2019.01.004
https://doi.org/10.1016/j.nrl.2019.01.004
Autor:
Matthew Martin, Katrin Beyer, Juan Luis Pérez-Navero, Eduardo López-Laso, Matias Mora, L. González Gutierrez-Solana, J. Martínez-Ruiz, J. Hernandez-Vara, M. Llorente, Á. García Cazorla, Juan-Luis Ramos, Rafael Artuch, María José de la Torre-Aguilar, J. Serrano Cárdenas, Pablo Mir, Beatriz Quintáns, M.J. Sobrido Gómez, A. Adarmes, J.J. Ochoa Sepúlveda, M.D. Teva, C. Castaño-de la Mota, J.C. Gómez-Esteban, Joaquín A. Fernández-Ramos, E. Moreno-Medinilla
Publikováno v:
Parkinsonism & Related Disorders. 94:67-78
Introduction In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Cordoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a retrospective multicentre study aimed at improving our knowledge of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75a8c227ec6aa98459dbd98688830544
https://doi.org/10.1016/j.parkreldis.2021.11.014
https://doi.org/10.1016/j.parkreldis.2021.11.014
Autor:
Nabil Alberto Sabbagh Casado, Francisco Barros Angueira, Daniel Apolinar García Estévez, Beatriz Quintáns
Publikováno v:
Neurology Perspectives. 2:53-55
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5389071529e9866252751fdb9641f476
https://doi.org/10.1016/j.neurop.2021.10.006
https://doi.org/10.1016/j.neurop.2021.10.006
Autor:
Manuel Desco, Juan A Guzmán-De-Villoria, María-Jesús Sobrido, Daniel Martín de Blas, Luis Marcos-Vidal, Yasser Alemán-Gómez, Francisco Grandas, Agustín Lage-Castellanos, Susanna Carmona, Andrés Ordoñez Ugalde, José Luis Muñoz-Blanco, Irene Catalina, Laura Lillo, Beatriz Quintáns, Francisco J. Navas-Sánchez, Alberto Fernández-Pena
Publikováno v:
Amyotrophic lateral sclerosisfrontotemporal degeneration. 23(1-2)
Objective: SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron disorder characterized by progressive retrograde degeneration, or "dying-back" ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3dc626674de5fee4f740465dba70066
https://pubmed.ncbi.nlm.nih.gov/34894929
https://pubmed.ncbi.nlm.nih.gov/34894929
Autor:
Yasser Alemán-Gómez, Andrés Ordóñez-Ugalde, Manuel Desco, Beatriz Quintáns, Francisco Grandas, Susanna Carmona, María-Jesús Sobrido, Julia Romero, Francisco J. Navas-Sánchez, Pilar Fernández-García, Luis Marcos-Vidal, Julio Pardo, Laura Lillo, Alberto Fernández-Pena, Irene Catalina, Daniel Martín de Blas, Juan A Guzmán-De-Villoria, José Luis Muñoz-Blanco
Publikováno v:
Journal of Neurology
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron disorder characterized by progressive spasticity and weakness of the lower limbs caused by d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2f20f283daf8db2ac325066a9e1bd9
Autor:
Francisco J, Navas-Sánchez, Alberto, Fernández-Pena, Daniel, Martín de Blas, Yasser, Alemán-Gómez, Luís, Marcos-Vidal, Juan A, Guzmán-de-Villoria, Pilar, Fernández-García, Julia, Romero, Irene, Catalina, Laura, Lillo, José L, Muñoz-Blanco, Andrés, Ordoñez-Ugalde, Beatriz, Quintáns, Julio, Pardo, María-Jesús, Sobrido, Susanna, Carmona, Francisco, Grandas, Manuel, Desco
Publikováno v:
Journal of neurology. 268(7)
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron disorder characterized by progressive spasticity and weakness of the lower limbs caused by d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ea85dd9f2816bb179f025c896ac4d12
https://pubmed.ncbi.nlm.nih.gov/33507371
https://pubmed.ncbi.nlm.nih.gov/33507371