Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ángel Sánchez‐Montáñez"'
Autor:
Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé‐Grau, Jorge Hernández‐Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández‐Rodríguez, Cristina Tello, Laura Ramírez‐Jiménez, Belén Pérez, Ángel Sánchez‐Montáñez, Alfons Macaya, María J. Sobrido, Marta Martinez‐Vicente, Belén Pérez‐Dueñas, Carmen Espinós
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1436-1442 (2020)
Abstact FBXO7 is implicated in the ubiquitin–proteasome system and parkin‐mediated mitophagy. FBXO7defects cause a levodopa‐responsive parkinsonian‐pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with
Externí odkaz:
https://doaj.org/article/5962ad217fd2467d95a29552c3e8210a
Autor:
Zuriñe Ortiz de Zarate, Ana Felipe-Rucián, Ángel Sánchez-Montáñez, Thais Armangué, David Gómez-Andrés
Publikováno v:
Neuropediatrics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35144b36c191975c5a5169ee42d3c145
https://pubmed.ncbi.nlm.nih.gov/35030636
https://pubmed.ncbi.nlm.nih.gov/35030636
Autor:
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)
Abstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing bo
Externí odkaz:
https://doaj.org/article/35a339c466cb40e8a5e21cd005acc393
Autor:
David, Gómez-Andrés, Jorge, Díaz, Francina, Munell, Ángel, Sánchez-Montáñez, Irene, Pulido-Valdeolivas, Lionel, Suazo, Cristián, Garrido, Susana, Quijano-Roy, Jorge A, Bevilacqua
Publikováno v:
Musclenerve. 59(4)
The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.Fibroadipose infiltration of 61 muscles was scored based on whole-body MRI of 33 patients with dysferlinopat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::43a4bf36574f415040ac941652969b5a
https://pubmed.ncbi.nlm.nih.gov/30578674
https://pubmed.ncbi.nlm.nih.gov/30578674
Autor:
Escudero-Fernandez, Jose Migue, Garcia-Carpintero, Angel Sánchez-Montañez, Delgado-Alvarez, Ignacio, Castellote-Alonso, Amparo, Vázquez-Mendez, Elida Josefa
Publikováno v:
In Radiology Case Reports November 2020 15(11):2059-2062
Autor:
Viñola, Margarida Gratacòs, Sanz, Núria Raguer, Seoane Reboredo, José Luís, Samper, Elena Lainez, Casadesus, Francina Munell, Bertran, Lluïsa Torrent, Garcia-Carpintero, Angel Sanchez-Montañez
Publikováno v:
In Clinical Neurophysiology May 2018 129 Supplement 1:e215-e215
Autor:
Jose Migue Escudero-Fernandez, MD, Angel Sánchez-Montañez Garcia-Carpintero, MD, Ignacio Delgado-Alvarez, MD, Amparo Castellote-Alonso, MD, Elida Josefa Vázquez-Mendez, Dr
Publikováno v:
Radiology Case Reports, Vol 15, Iss 11, Pp 2059-2062 (2020)
Paraneoplastic neurologic syndromes are a rare and heterogeneous group of immune-mediated syndromes caused by underlying solid and nonsolid tumors. We present a case of 8-year-old female with long history of mild headaches and central instability who
Externí odkaz:
https://doaj.org/article/e85b7c129f624e6fa87536a9baca30ed
Autor:
Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100690- (2021)
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur
Externí odkaz:
https://doaj.org/article/acea3658f5bd4727b3e310ec0b2b0b1b
Autor:
Cyprian Olchowy, Ewa J Maciąg, Angel Sanchez-Montanez, Anna Olchowy, Ignacio Delgado, Elida Vazquez
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0208589 (2018)
IntroductionThe safety of using GBCAs to enhance the visibility of body structures is currently discussed due to possible gadolinium retention in brain structures. The aim of the study was to evaluate the effect of multiple exposures to macrocyclic G
Externí odkaz:
https://doaj.org/article/851eea10386e4fe89ffc203af524b801
Autor:
Fabiola Caracseghi, Jaume Izquierdo-Blasco, Angel Sanchez-Montanez, Susana Melendo-Perez, Manuel Roig-Quilis, Consuelo Modesto
Publikováno v:
Case Reports in Rheumatology, Vol 2011 (2011)
Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern
Externí odkaz:
https://doaj.org/article/4f101b0710fc49b2839de74b76404132