Zobrazeno 1 - 10
of 268
pro vyhledávání: '"Adolfo López de Munain"'
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionMyotonic dystrophy type 1 (DM1) is a hereditary neuromuscular disorder affecting the central nervous system (CNS). Although sex differences have been explored in other neuromuscular disorders, research on this topic in DM1 remains limited
Externí odkaz:
https://doaj.org/article/369f27368b004b7f9334cf45ccd56e9a
Autor:
Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly established yet, Wnt and
Externí odkaz:
https://doaj.org/article/c98a543474c243b18fb6ae233988a467
Autor:
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/
Externí odkaz:
https://doaj.org/article/2dfa1e8234864677aabd2a18c1c7242e
Autor:
Miriam Bobadilla Muñoz, Josune Orbe, Gloria Abizanda, Florencio J. D. Machado, Amaia Vilas, Asier Ullate-Agote, Leire Extramiana, Arantxa Baraibar Churio, Xabier L. Aranguren, Gloria Cantero, Neira Sáinz Amillo, José Antonio Rodríguez, Luis Ramos García, Juan Pablo Romero Riojas, Ainara Vallejo-Illarramendi, Carmen Paradas, Adolfo López de Munain, José Antonio Páramo, Felipe Prósper, Ana Pérez-Ruiz
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Aged muscles accumulate satellite cells with a striking decline response to damage. Although intrinsic defects in satellite cells themselves are the major contributors to aging-associated stem cell dysfunction, increasing evidence suggests that chang
Externí odkaz:
https://doaj.org/article/6f3b235d66ea48b0903667a7547e22f3
Autor:
Garazi Labayru, Borja Camino, Antonio Jimenez-Marin, Joana Garmendia, Jorge Villanua, Miren Zulaica, Jesus M. Cortes, Adolfo López de Munain, Andone Sistiaga
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. WM changes in DM1 include increased hyperintensities and altered tract integrity distributed in a widespread manner. However, the pre
Externí odkaz:
https://doaj.org/article/f7e568f5d4dd42a2a19db240a530d851
Autor:
Elena Cortés‐Vicente, Rodrigo Álvarez‐Velasco, Francesc Pla‐Junca, Ricard Rojas‐Garcia, Carmen Paradas, Teresa Sevilla, Carlos Casasnovas, María Teresa Gómez‐Caravaca, Julio Pardo, Alba Ramos‐Fransi, Ana Lara Pelayo‐Negro, Gerardo Gutiérrez‐Gutiérrez, Janina Turon‐Sans, Adolfo López de Munain, Antonio Guerrero‐Sola, Ivonne Jericó, María Asunción Martín, María Dolores Mendoza, Germán Morís, Beatriz Vélez‐Gómez, Tania Garcia‐Sobrino, Elba Pascual‐Goñi, David Reyes‐Leiva, Isabel Illa, Eduard Gallardo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 122-131 (2022)
Abstract Objective To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. Methods This observational retrospe
Externí odkaz:
https://doaj.org/article/2b39a018049e4bdbb38862338fe7dbf0
Autor:
Estefanía Cerro-Herreros, Irene González-Martínez, Nerea Moreno, Jorge Espinosa-Espinosa, Juan M. Fernández-Costa, Anna Colom-Rodrigo, Sarah J. Overby, David Seoane-Miraz, Javier Poyatos-García, Juan J. Vilchez, Adolfo López de Munain, Miguel A. Varela, Matthew J. Wood, Manuel Pérez-Alonso, Beatriz Llamusí, Rubén Artero
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 174-191 (2021)
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ribonuclear foci. Depletion of
Externí odkaz:
https://doaj.org/article/fcb1590ef3cd430fb37c123264dbacdc
Autor:
Mikel García-Puga, Ander Saenz-Antoñanzas, Gorka Gerenu, Alex Arrieta-Legorburu, Roberto Fernández-Torrón, Miren Zulaica, Amets Saenz, Joseba Elizazu, Gisela Nogales-Gadea, Shahinaz M. Gadalla, Marcos J. Araúzo-Bravo, Adolfo López de Munain, Ander Matheu
Publikováno v:
JCI Insight, Vol 7, Iss 19 (2022)
Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 resemble the appearance of an a
Externí odkaz:
https://doaj.org/article/21e2c0c19010444fa4506a0c73f02c75
Autor:
Idoia Beobide Telleria, Alexander Ferro Uriguen, Esther Laso Lucas, Cinzia Sannino Menicucci, Maria Enriquez Barroso, Adolfo López de Munain Arregui
Publikováno v:
Atención Primaria, Vol 54, Iss 10, Pp 102463- (2022)
Objective: The aim of this paper was to analyse the association of demographic, clinical and pharmacological risk factors with the presence of SARS-COV-2 virus infection, as well as to know the variables related to mortality from COVID-19 in nursing
Externí odkaz:
https://doaj.org/article/f88cecdacef346959d9bb24f00e57503
Autor:
Nicholas J. Ashton, Shorena Janelidze, Ahmad Al Khleifat, Antoine Leuzy, Emma L. van der Ende, Thomas K. Karikari, Andrea L. Benedet, Tharick A. Pascoal, Alberto Lleó, Lucilla Parnetti, Daniela Galimberti, Laura Bonanni, Andrea Pilotto, Alessandro Padovani, Jan Lycke, Lenka Novakova, Markus Axelsson, Latha Velayudhan, Gil D. Rabinovici, Bruce Miller, Carmine Pariante, Naghmeh Nikkheslat, Susan M. Resnick, Madhav Thambisetty, Michael Schöll, Gorka Fernández-Eulate, Francisco J. Gil-Bea, Adolfo López de Munain, Ammar Al-Chalabi, Pedro Rosa-Neto, Andre Strydom, Per Svenningsson, Erik Stomrud, Alexander Santillo, Dag Aarsland, John C. van Swieten, Sebastian Palmqvist, Henrik Zetterberg, Kaj Blennow, Abdul Hye, Oskar Hansson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Cerebrospinal fluid neurofilament light (NfL) is a biomarker for neurodegeneration that can also be assessed in blood. Here the authors show in a validation study the potential for plasma NfL as a biomarker for several neurodegenerative diseases.
Externí odkaz:
https://doaj.org/article/5a53b0a732414b4ca05246e46c25baa3