20832. CONSENSO EXPERTO SOBRE DEFINICIONES CLÍNICAS EN TORNO A LA MIASTENIA GRAVIS (MG)

Autor: E. Cortés Vicente, F. Campos Lucas, F. Caballero Martínez, M. Díaz Maroto, G. Gutiérrez Gutiérrez, S. Kapetanovic, E. Martínez Hernández, M. Rabasa Pérez, A. Ramos Fransi, T. Sevilla Mantecón

Publikováno v: Neurology Perspectives, Vol 4, Iss , Pp 245- (2024)

Externí odkaz: https://doaj.org/article/024b1c1b4bba4d81b1873c03bf765fa4

Abstract 062: N20 Potential And Imaging Biomarkers Of Functional Recovery In Acute Ischemic Stroke Patients And EVT

Autor: Alicia Martinez Piñeiro, Giuseppe Lucente, María Hernandez‐Perez, Jordi Cortés, Andrea Arbex, Meritxell Gomis Cortina, Laura Dorado Bouix, Natalia Pérez de la Ossa, Alba Ramos‐Fransi, Miriam Almendrote, Carlos Castaño, Sebastián Remollo, Maria Rosa García Sort, Patricia Cuadras Collsamata, Mónica Millán, Antoni Dávalos

Publikováno v: Stroke: Vascular and Interventional Neurology, Vol 3, Iss S2 (2023)

Introduction PROMISE trial has shown high predictive accuracy of the N20 somatosensory evoked potential (SEP) response on functional recovery in patients with AIS undergoing endovascular thrombectomy (EVT). This secondary study aims to describe the a

Externí odkaz: https://doaj.org/article/1ecd39feded8405a8c20de950d6549c2

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

Autor: Alonso-Pérez, Jorge, Segovia, Sonia, Domínguez-González, Cristina, Olivé, Montse, Mendoza Grimón, María Dolores, Fernández-Torrón, Roberto, López de Munain, Adolfo, Muñoz-Blanco, José Luis, Ramos-Fransi, Alba, Almendrote, Miriam, Illa, Isabel, Díaz-Manera, Jordi ^⁎

Publikováno v: In Medicina Clínica (English Edition) 14 February 2020 154(3):80-85

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

Autor: Emma Koehorst, Renato Odria, Júlia Capó, Judit Núñez-Manchón, Andrea Arbex, Miriam Almendrote, Ian Linares-Pardo, Daniel Natera-de Benito, Verónica Saez, Andrés Nascimento, Carlos Ortez, Miguel Ángel Rubio, Jordi Díaz-Manera, Jorge Alonso-Pérez, Giuseppe Lucente, Agustín Rodriguez-Palmero, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea, Mònica Suelves

Publikováno v: Biomedicines, Vol 10, Iss 6, p 1372 (2022)

Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of DM1, we compared DNA methylation profiles of four annotated CpG islands (CpGis) in the DMPK

Externí odkaz: https://doaj.org/article/b576b232a7bf4442838513ca2c248aa2

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Autor: Esteller D; Neurology Department, Hospital Clinic de Barcelona, Universitat de Barcelona, Barcelona, Spain., Schiava M; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, United Kingdom., Verdú-Díaz J; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, United Kingdom., Villar-Quiles RN; APHP, Centre de Référence des Maladies Neuromusculaires, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, APHP, Hôpital Pitié-Salpêtrière, Paris, France., Dibowski B; Department of Radiology, Assistance Publique-Hôpitaux de Paris (AP-HP), DMU Start Imaging, Raymond Poincaré Teaching Hospital, Garches, France., Venturelli N; Department of Radiology, Assistance Publique-Hôpitaux de Paris (AP-HP), DMU Start Imaging, Raymond Poincaré Teaching Hospital, Garches, France., Laforet P; Département de Neurologie Hôpital Raymond-Poincaré Garches France Inserm U1179, Garches, France., Alonso-Pérez J; Servicio de Neurología. Hospital Virgen de la Candelaria, Tenerife, Spain.; Neuromuscular Diseases Unit, Neurology Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Olive M; Neuromuscular Diseases Unit, Neurology Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Domínguez-González C; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Instituto de Investigación imas12, Hospital 12 de Octubre, Madrid, Spain., Paradas C; Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Virgen del Rocio, Seville, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Vélez B; Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Virgen del Rocio, Seville, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, ERN EURO NMD, Warsaw, Poland.; Neuromuscular Reference Centre, ERN-EURO-NMD, Warsaw, Poland., Kierdaszuk B; Department of Neurology, Medical University of Warsaw, ERN EURO NMD, Warsaw, Poland.; Neuromuscular Reference Centre, ERN-EURO-NMD, Warsaw, Poland., Rodolico C; UOC di Neurologia e Malattie Neuromuscolari, AOU Policlinico 'G. Martino', Rome, Italy., Claeys K; Neurologie, Neuromusculair Referentiecentrum, Universitaire Ziekenhuizen, Leuven, Belgium., Pál E; Neurology Department, University of Pécs, Pécs, Hungary., Malfatti E; Université Paris Est, U955 INSERM, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, EURO-NMD, 94010, Creteil, France., Souvannanorath S; Université Paris Est, U955 INSERM, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, EURO-NMD, 94010, Creteil, France., Alonso-Jiménez A; Neurology Department, Universitary Hospital Antwerpen, Edegem, Belgium., de Ridder W; Neurology Department, Universitary Hospital Antwerpen, Edegem, Belgium., De Smet E; Neurology Department, Universitary Hospital Antwerpen, Edegem, Belgium., Papadimas G; Department of Neurology, Eginition Hospital, Medical School, NKUA, ERN, EURO NMD, Athens, Greece., Papadopoulos C; Department of Neurology, Eginition Hospital, Medical School, NKUA, ERN, EURO NMD, Athens, Greece., Xirou S; Department of Neurology, Eginition Hospital, Medical School, NKUA, ERN, EURO NMD, Athens, Greece., Luo S; Neurology Department, Huashan Hospital, Fudan University, Shangai, China., Muelas N; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Department of Medicine, Universitat de València, Valencia, Spain., Vilchez JJ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Department of Medicine, Universitat de València, Valencia, Spain., Ramos-Fransi A; Unitat de Malalties Neuromusculars, Servei de Neurologia, Hospital Germans Tries I Pujol, Badalona, Spain., Monforte M; UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, United Kingdom., Udd B; Tampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.; Folkhalsan Genetic Institute, Helsinki University, Helsinki, Finland., Palmio J; Tampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.; Folkhalsan Genetic Institute, Helsinki University, Helsinki, Finland., Sri S; Sree Chitra Tirunal Insitute for Medical Sciences and Technology, Thiruvananthapuram, India., Krause S; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics, Munich, Germany., Schoser B; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics, Munich, Germany., Fernández-Torrón R; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.; Neurology Department, Biodonostia Health Research Institute, Donostia, Spain., López de Munain A; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.; Neurology Department, Biodonostia Health Research Institute, Donostia, Spain., Pegoraro E; Department of Neurosciences, University of Padova, Padua, Italy., Farrugia ME; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, Scotland, UK., Vorgerd M; Heimer Institut for Muscle Research, Klinikum Bergmannsheil Ruhr, University Bochum, Bochum, Germany., Manousakis G; University of Minnesota, Minneapolis, USA., Chanson JB; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile-de-France and ERN-EURO-NMD, Neurology Department, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Nadaj-Pakleza A; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile-de-France and ERN-EURO-NMD, Neurology Department, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Cetin H; Neurology Department, Medical University of Vienna, Vienna, Austria., Badrising U; Leiden University Medical Center, Leiden, The Netherlands., Warman-Chardon J; Department of Medicine (Neurology), The Ottawa Hospital, Ottawa, Canada., Bevilacqua J; Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago de Chile, Chile., Earle N; Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago de Chile, Chile., Campero M; Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago de Chile, Chile., Díaz J; Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago de Chile, Chile., Ikenaga C; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA., Lloyd TE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology, Tokyo, Japan., Nishimori Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology, Tokyo, Japan., Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology, Tokyo, Japan., Oya Y; Department of Neurology, National Center Hospital, NCNP, Tokyo, Japan., Takahashi Y; Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan., Nishikawa A; Department of Neurology, Kinki Central Hospital, Hyogo, Japan., Sasaki R; Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan., Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, United Kingdom., Guglieri M; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, United Kingdom., Stojkovic T; APHP, Centre de Référence des Maladies Neuromusculaires, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, APHP, Hôpital Pitié-Salpêtrière, Paris, France., Carlier RY; Department of Radiology, Assistance Publique-Hôpitaux de Paris (AP-HP), DMU Start Imaging, Raymond Poincaré Teaching Hospital, Garches, France., Díaz-Manera J; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, United Kingdom. Jordi.diaz-manera@newcastle.ac.uk.; Neuromuscular Diseases Unit, Neurology Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Jordi.diaz-manera@newcastle.ac.uk.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Jordi.diaz-manera@newcastle.ac.uk.

Publikováno v: Journal of neurology [J Neurol] 2024 Apr; Vol. 271 (4), pp. 2147-2148.