Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Juan J Vilchez"'
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:
Maria Sabater-Arcis, Ariadna Bargiela, Nerea Moreno, Javier Poyatos-Garcia, Juan J. Vilchez, Ruben Artero
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 652-667 (2021)
Skeletal muscle symptoms strongly contribute to mortality of myotonic dystrophy type 1 (DM1) patients. DM1 is a neuromuscular genetic disease caused by CTG repeat expansions that, upon transcription, sequester the Muscleblind-like family of proteins
Externí odkaz:
https://doaj.org/article/a4afb6946f544312a3ac309996985fde
Autor:
Pedro Asensi Cantó, Empar Mayordomo, Andrea Dorado, Marta Villalba, Rosana Blanco Mañez, Eva González, Miguel Salavert, Ana Facal, Pedro Chorão, Aitana Balaguer, Rafael Sivera, Juan Montoro, Juan J. Vilchez, José Luis Piñana, Miguel Sanz, Jaime Sanz, Nuria Muelas, Manuel Guerreiro
Publikováno v:
Transplant Infectious Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a72b463a9c6547bfa6c9879963ea6660
https://doi.org/10.1111/tid.14067
https://doi.org/10.1111/tid.14067
Autor:
Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlova, Volker Straub, Laurel J. Mengle-Gaw, Benjamin D. Schwartz, Amy D. Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michelle L. Yang, Monique M. Ryan, Craig M. McDonald, Mar Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vashmi K. Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M. Sbrocchi, Kathryn A. Selby, Migvis Monduy, Yoram Nevo, Juan J. Vilchez-Padilla, Andres Nascimento-Osorio, Erik H. Niks, Imelda J.M. de Groot, Marina Katsalouli, Meredith K. James, Johannes van den Anker, Jesse M. Damsker, Alexandra Ahmet, Leanne M. Ward, Mark Jaros, Phil Shale, Utkarsh J. Dang, Eric P. Hoffman
Publikováno v:
JAMA Neurology, 79(10), 1005-1014. AMER MEDICAL ASSOC
Jama Neurology, 79, 10, pp. 1005-1014
Jama Neurology, 79, 1005-1014
Jama Neurology, 79, 10, pp. 1005-1014
Jama Neurology, 79, 1005-1014
ImportanceCorticosteroidal anti-inflammatory drugs are widely prescribed but long-term use shows adverse effects that detract from patient quality of life.ObjectiveTo determine if vamorolone, a structurally unique dissociative steroidal anti-inflamma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725b0a040cb61b4b57e2cda4b26e1adf
http://hdl.handle.net/1887/3497485
http://hdl.handle.net/1887/3497485
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Autor:
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller
Publikováno v:
Neurology. Genetics. 8(6)
Background and ObjectivesTo determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from Eastern Spain.MethodsA total
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1195d4c0d80c5e8e15a487923001d21a
https://pubmed.ncbi.nlm.nih.gov/36530930
https://pubmed.ncbi.nlm.nih.gov/36530930
Autor:
Jeffrey M. Statland, Craig Campbell, Urvi Desai, Chafic Karam, Jordi Díaz‐Manera, Jeffrey T. Guptill, Lawrence Korngut, Angela Genge, Rabi N. Tawil, Lauren Elman, Nanette C. Joyce, Kathryn R. Wagner, Georgios Manousakis, Anthony A. Amato, Russell J. Butterfield, Perry B. Shieh, Matthew Wicklund, Josep Gamez, Cynthia Bodkin, Alan Pestronk, Conrad C. Weihl, Juan J. Vilchez‐Padilla, Nicholas E. Johnson, Katherine D. Mathews, Barry Miller, Ashley Leneus, Marcie Fowler, Marc van de Rijn, Kenneth M. Attie
Publikováno v:
MUSCLE & NERVE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
INTRODUCTION/AIMS: Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we evaluated whether locally acting ACE-083 could safely increase muscle volume and improve function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5633f4fbc98d0656df25aa5f60ef8e7f
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9872
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9872
Autor:
Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose
Publikováno v:
Paediatrics Publications
Aim: Compare efficacies of deflazacort and prednisone/prednisolone in providing clinically meaningful delays in loss of physical milestones in patients with nonsense mutation Duchenne muscular dystrophy. Materials & methods: Placebo data from Phase I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
Publikováno v:
Annals of Neurology; Mar2003, Vol. 53 Issue 3, p347-353, 7p
Publikováno v:
PLoS ONE, Vol 13, Iss 6, p e0198880 (2018)
[This corrects the article DOI: 10.1371/journal.pone.0197254.].
Externí odkaz:
https://doaj.org/article/315eef2ed3274bacb7aacbfe485d3d75
Publikováno v:
PLoS ONE, Vol 13, Iss 5, p e0197254 (2018)
Ankyrin repeat and kinase domain containing 1 (ANKK1) gene has been widely related to neuropsychiatry disorders. The localization of ANKK1 in neural progenitors and its correlation with the cell cycle has suggested its participation in development. H
Externí odkaz:
https://doaj.org/article/2f3b4fc4a19d4e508cc07a048d2ea8f2