المؤلفون: 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

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

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2694-5746

URL الوصول: https://doaj.org/article/1ecd39feded8405a8c20de950d6549c2

المؤلفون: 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

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 122-131 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/2b39a018049e4bdbb38862338fe7dbf0

المؤلفون: 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

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

مصطلحات موضوعية: myotonic dystrophy, CpG islands, DNA methylation, epigenetics, phenotype severity, DM1 biopsies, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/6/1372; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/b576b232a7bf4442838513ca2c248aa2

المؤلفون: Gisela Nogales-Gadea, Alba Ramos-Fransi, Xavier Suárez-Calvet, Miquel Navas, Ricard Rojas-García, Jose Luis Mosquera, Jordi Díaz-Manera, Luis Querol, Eduard Gallardo, Isabel Illa

المصدر: PLoS ONE, Vol 9, Iss 3, p e91927 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24637658/pdf/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/680a1d439c5c465e996a66ad2745698b

المؤلفون: Alicia Martinez‐Piñeiro, Giuseppe Lucente, María Hernandez‐Perez, Jordi Cortés, Andrea Arbex, Natalia Pérez de la Ossa, Alba Ramos‐Fransí, Miriam Almendrote, Mònica Millán, Meritxell Gomis, Laura Dorado, Carlos Castaño, Sebastián Remollo, Patricia Cuadras, Alicia Garrido, Nicolau Guanyabens, Joaquim Broto, Elena López‐Cancio, Jaume Coll‐Canti, Antoni Dávalos

المصدر: Stroke: Vascular and Interventional Neurology, Vol 3, Iss 5 (2023)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429, Diseases of the circulatory (Cardiovascular) system, RC666-701

Relation: https://doaj.org/toc/2694-5746; https://doaj.org/article/745d622dd8bb4445b305c23ab649aff7

الاتاحة: https://doi.org/10.1161/SVIN.122.000735
https://doaj.org/article/745d622dd8bb4445b305c23ab649aff7

المؤلفون: Emma Koehorst, Judit Núñez-Manchón, Alfonsina Ballester-López, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jakub Chojnacki, Rafael Vázquez-Manrique, Ana Gómez-Escribano, Guillem Pintos-Morell, Jaume Coll-Cantí, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Mònica Suelves, Gisela Nogales-Gadea

المصدر: Journal of Clinical Medicine; Volume 10; Issue 23; Pages: 5520

مصطلحات موضوعية: RAN translation, antisense transcription, myotonic dystrophies, primary cell cultures, phenotypic modulators

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm10235520

الاتاحة: https://doi.org/10.3390/jcm10235520

المؤلفون: Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Jaume Coll-Cantí, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jonathan J. Magaña, Nadia M. Murillo-Melo, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea

المصدر: Genes; Volume 11; Issue 7; Pages: 757

مصطلحات موضوعية: CTG expansion size, myotonic dystrophy type 1, long PCR, small pool-PCR, age of disease onset

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11070757

الاتاحة: https://doi.org/10.3390/genes11070757

المؤلفون: Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Judit Núñez-Manchón, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Carles Puente, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Guillem Pintos-Morell, Jaume Coll-Cantí, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea

المصدر: Genes, Vol 11, Iss 1321, p 1321 (2020)

مصطلحات موضوعية: myotonic dystrophy type 1, somatic instability, CTG expansion, blood, muscle, skin, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/11/11/1321; https://doaj.org/toc/2073-4425; https://doaj.org/article/c23b4ed3218f4218889c8b19c739ef1e

الاتاحة: https://doi.org/10.3390/genes11111321
https://doaj.org/article/c23b4ed3218f4218889c8b19c739ef1e

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

المصدر: Medicina Clínica. 154:80-85

مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, business.industry, Baseline characteristics, Medicine, 030212 general & internal medicine, General Medicine, business, Humanities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::11a9dcfea83477a189fbc36877925c89
https://doi.org/10.1016/j.medcli.2019.03.036

المؤلفون: Carlos Casasnovas, Yolanda Morgado, María Teresa Gómez-Caravaca, Luis Querol, Alba Ramos-Fransi, Helena Pérez-Pérez, Rodrigo Álvarez-Velasco, Elisabeth Martínez, Velina Nedkova, Janina Turon-Sans, Juan Carlos Trujillo, Ivonne Jericó, Eduard Gallardo, Ricard Rojas-García, Guillermo Fernández, Beatriz Vélez-Gómez, Ana L. Pelayo-Negro, Sonia Segovia, Alicia Martínez-Piñeiro, Elena Cortés-Vicente, Teresa Sevilla, Carmen Paradas, María Asunción Martín, María Dolores Mendoza, Adolfo López de Munain, Marina Arribas-Velasco, Antonio Guerrero-Sola, Gerardo Gutiérrez-Gutiérrez, Isabel Illa, Julio Pardo

المساهمون: Instituto de Salud Carlos III, European Commission, Generalitat de Catalunya, Ministerio de Sanidad y Consumo (España)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
European Journal of Neurology
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol

مصطلحات موضوعية: medicine.medical_specialty, Thymoma, Enfermedad del sistema nervioso, Miastenia gravis, chemical and pharmacologic phenomena, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Disease severity, Recurrence, Internal medicine, hemic and lymphatic diseases, Myasthenia Gravis, medicine, Humans, In patient, 030212 general & internal medicine, neoplasms, Neurología, Myasthenia gravis, Retrospective Studies, business.industry, Hazard ratio, Odds ratio, Thymus Neoplasms, thymoma, medicine.disease, Thymectomy, Prognosis, Confidence interval, Thymom, Efectos fisiológicos, surgical procedures, operative, Neurology, Multicenter study, Signos y síntomas, Neurology (clinical), Neoplasm Recurrence, Local, business, Timoma, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05b9db7e1cf3c3abf7fc5b402de3738
http://hdl.handle.net/10261/262175

المؤلفون: Jaume Col-Cantí, Emma Koehorst, Adolfo López de Munain, Darren G. Monckton, Jonathan J. Magaña, Judit Núñez-Manchón, Sarah A. Cumming, Alba Ramos-Fransi, Laura Palomo, Miriam Almendrote, Guillem Pintos-Morell, Giuseppe Lucente, Alejandro Lucia, Gisela Nogales-Gadea, Alicia Martínez-Piñeiro, Francesc Solé, Ian Linares-Pardo, Ana Maria Cobo, Alfonsina Ballester-Lopez

مصطلحات موضوعية: Cell, RNA, Biology, medicine.disease, Molecular biology, Myotonic dystrophy, chemistry.chemical_compound, medicine.anatomical_structure, Single-cell analysis, chemistry, RNA splicing, medicine, Myocyte, MBNL1, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4b5ca38f75c9c8812059a7bc8fd0630d
https://doi.org/10.22541/au.159602544.49698039

المؤلفون: Gisela Nogales-Gadea, Ian Linares-Pardo, Emma Koehorst, Alba Ramos-Fransi, Jaume Coll-Cantí, Guillem Pintos-Morell, Jonathan J. Magaña, Andrea Arbex, Sarah A. Cumming, Alejandro Lucia, Alfonsina Ballester-Lopez, Darren G. Monckton, Alicia Martínez-Piñeiro, Miriam Almendrote, Giuseppe Lucente, Nadia M Murillo-Melo, Judit Núñez-Manchón

المصدر: Genes
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genes, Vol 11, Iss 757, p 757 (2020)

مصطلحات موضوعية: 0301 basic medicine, Bioquímica, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, age of disease onset, Disease onset, lcsh:QH426-470, Long pcr, Heat pulse, CTG expansion size, small pool-PCR, Biology, Genética humana, Myotonic dystrophy, Polymerase Chain Reaction, Myotonin-Protein Kinase, law.invention, long PCR, 03 medical and health sciences, 0302 clinical medicine, law, Genetics, medicine, Humans, Myotonic Dystrophy, Clinical severity, Genetic Testing, Allele, Age of Onset, 3' Untranslated Regions, myotonic dystrophy type 1, Genetics (clinical), Polymerase chain reaction, Brief Report, Reference Standards, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, Sample size determination, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce5ec8b1b6e85823aa165e4a9c33853
https://pubmed.ncbi.nlm.nih.gov/32645888

المؤلفون: Alejandro Lucia, Carlos Rodriguez-Lopez, Ignacio Ara, Alejandro Santos-Lozano, Alfredo Santalla, Ian Linares-Pardo, Emma Koehorst, Gisela Nogales-Gadea, Alba Ramos-Fransi, Daniëlle Coenen, Miriam Almendrote, Judit Núñez-Manchón, Miguel A. Martín, Guillem Pintos-Morell, Alfonsina Ballester-Lopez, Joaquín Arenas, Giuseppe Lucente, Alicia Martínez-Piñeiro, Mauricio de Castro, Jaume Coll-Cantí

المساهمون: Promovendi CD, Biochemie, RS: CARIM - R1.03 - Cell biochemistry of thrombosis and haemostasis

المصدر: Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Journal of Inherited Metabolic Disease, 41(6), 1027-1035. Wiley

مصطلحات موضوعية: Male, 0301 basic medicine, myalgia, Second wind, Genética humana, 0302 clinical medicine, Genetics (clinical), Aged, 80 and over, PAIN, WINGATE ANAEROBIC TEST, Middle Aged, RELIABILITY, Glycogen Phosphorylase, Muscle Form, Female, medicine.symptom, Adult, Heterozygote, medicine.medical_specialty, Weakness, McArdle disease, Statin, medicine.drug_class, Investigación médica, Young Adult, 03 medical and health sciences, Glycogen phosphorylase, Internal medicine, Genetics, medicine, Humans, Family, Genetic Testing, Lactic Acid, Allele, Muscle, Skeletal, PYGM MUTATIONS, Aged, Wingate test, business.industry, Heterozygote advantage, Myalgia, GENE, 030104 developmental biology, Mutation, Exercise Test, Glycogen Storage Disease Type V, UPDATE, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8da98cd3d23a3807e4f579b7c7a2ee
https://cris.maastrichtuniversity.nl/en/publications/52723cfd-81a3-4149-873c-faf67343d401

المؤلفون: Giuseppe Lucente, Jaume Coll-Cantí, Alba Ramos-Fransi, Miriam Almendrote-Muñoz, Pedro Castro, Vedran Deletis, Carlos Martinez-Barenys, Alicia Martínez-Piñeiro

المصدر: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 38(3)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Intraoperative Neurophysiological Monitoring, Physiology, Neural Conduction, Action Potentials, Xiphoid process, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Medicine, Humans, 0501 psychology and cognitive sciences, Pneumonectomy, Phrenic nerve, Aged, business.industry, Electromyography, 05 social sciences, Mean age, Surgical procedures, Middle Aged, Compound muscle action potential, Phrenic Nerve, Functional integrity, medicine.anatomical_structure, Neurology, Cardiothoracic surgery, Anesthesia, Motor point, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930d16659300d697e8c5db11e4e7e282
https://pubmed.ncbi.nlm.nih.gov/31895134

المؤلفون: Emma Koehorst, Alejandro Lucia, Alicia Martínez-Piñeiro, Shaliza Ann Hanick, Marta Lopez-Osias, Alfonsina Ballester-Lopez, Nicolau Guanyabens, Gisela Nogales-Gadea, Miriam Almendrote, Giuseppe Lucente, Jaume Coll-Cantí, Alba Ramos-Fransi, Adrián Suárez-Mesa, Guillem Pintos-Morell, Ian Linares-Pardo, Jakub Chojnacki, Judit Núñez-Manchón

المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Neurology-Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Neurology: Genetics

مصطلحات موضوعية: 0301 basic medicine, Imágenes tridimensionales en medicina, Cell, Genética humana, Myotonic dystrophy, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Myocyte, MBNL1, Tecnología médica, Genetics (clinical), biology, Endoplasmic reticulum, RNA, medicine.disease, Molecular biology, Insulin receptor, 030104 developmental biology, medicine.anatomical_structure, chemistry, RNA splicing, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f61c190fcd0ae06fcd171295ac2ab1
https://hdl.handle.net/11268/9157

المؤلفون: Jordi Díaz-Manera, Ana Lozano-Veintimilla, Tania García-Sobrino, Carmen Paradas, Ivonne Jericó, Angel Cano-Abascal, Sonia Segovia, Antonio Guerrero-Sola, Teresa Sevilla, Luis Querol, Isabel Illa, Alba Ramos-Fransi, Beatriz Vélez, Rodrigo Álvarez-Velasco, Carlos Casasnovas, Ana L. Pelayo-Negro, Alicia Martínez-Piñeiro, Maria Antonia Alberti, Eduard Gallardo, Lucía Galán, Elena Cortés-Vicente, Germán Morís, María Dolores Mendoza, Maria Teresa Gómez, María Asunción Martín, Gerardo Gutiérrez-Gutiérrez, Roberto Fernández-Torrón, Adolfo López de Munain, Julio Pardo, Ricard Rojas-García

المصدر: Neurology
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Digital.CSIC. Repositorio Institucional del CSIC
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Thymoma, genetic structures, Cross-sectional study, Investigación médica, Enfermedad del sistema nervioso, MEDLINE, Miastenia gravis, Late onset, DISEASE, CLASSIFICATION, Article, ACETYLCHOLINE-RECEPTOR, 03 medical and health sciences, 0302 clinical medicine, immune system diseases, Myasthenia Gravis, medicine, Enfermedades neuromusculares, Humans, RITUXIMAB, 030212 general & internal medicine, Age of Onset, Aged, business.industry, Análisis de datos, Middle Aged, medicine.disease, Myasthenia gravis, nervous system diseases, Cross-Sectional Studies, Treatment Outcome, Multicenter study, ANTIBODIES, AUTOANTIBODIES, Female, Observational study, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, MUSK

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a6da8566bfa0e15b4f6ba6341d609f
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4347

المؤلفون: Alfonsina Ballester-Lopez, Judit Núñez-Manchón, Emma Koehorst, Ian Linares-Pardo, Miriam Almendrote, Giuseppe Lucente, Nicolau Guanyabens, Marta Lopez-Osias, Adrián Suárez-Mesa, Shaliza Ann Hanick, Jakub Chojnacki, Alejandro Lucia, Guillem Pintos-Morell, Jaume Coll-Cantí, Alicia Martínez-Piñeiro, Alba Ramos-Fransi, Gisela Nogales-Gadea

المصدر: Neurology Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::61f61c190fcd0ae06fcd171295ac2ab1

المؤلفون: Adolfo López de Munain, Germán Morís, María José Gómez Rodríguez, Tanya Stojkovic, Lidia Gonzalez-Quereda, Alba Ramos-Fransi, Ana L. Pelayo-Negro, Ivonne Ingrid Zamorano, Pascal Laforêt, Baziel G.M. van Engelen, Corinne G.C. Horlings, Claudia Nuñez-Peralta, Anne-Sofie Vibæk Eisum, Chiara Marini-Bettolo, Aida Alejaldre-Monforte, María Asunción Martín, Roberto Fernández-Torrón, Giorgio Tasca, Montse Olivé, Maria Teresa Gómez, Juan J. Vílchez, Jorge Diaz-Jara, Carmen Paradas, Jordi Díaz-Manera, Julio Pardo, Alicia Alonso-Jimenez, Roberto García-Figueiras, Solange Kapetanovic, Jorge A. Bevilacqua, Pia Gallano, Freja Fornander, Isabel Illa, Enzo Ricci, Luis Querol, Matteo Garibaldi, A. Martinez, Rosemarie H M J M Kroon, L. Gonzalez, Enric Verges-Gil, Ricardo Rojas-García, Mauro Monforte, Robert Carlier, Cristina Dominguez Gonzalez, John Vissing, C. Márquez, Elena Cortés-Vicente, Nuria Muelas, Volker Straub, Gerardo Gutiérrez Gutiérrez, Tania García-Sobrino

المصدر: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Journal of Neurology, Neurosurgery, and Psychiatry, 90, 5, pp. 576-585
Journal of Neurology, Neurosurgery, and Psychiatry, 90, 576-585
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol

مصطلحات موضوعية: Male, Pathology, Disease, registro español de enfermedades neuromusculares (NMD-ES), outcome measures, Cohort Studies, 0302 clinical medicine, Muscle mri, Genetic disorder, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, Natural history, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Psychiatry and Mental Health, OPMD, muscle MRI, Female, muscular dystrophy, oculopharyngeal muscular dystrophy, Surgery, Neurology (clinical), Adult, medicine.medical_specialty, Oculopharyngeal muscular dystrophy, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Muscular Dystrophy, Oculopharyngeal, Tongue, medicine, Humans, Muscle, Skeletal, business.industry, medicine.disease, Clinical trial, Cross-Sectional Studies, OPMD, muscle MRI, muscular dystrophy, oculopharyngeal muscular dystrophy, outcome measures, registro español de enfermedades neuromusculares (NMD-ES), Differential diagnosis, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127fd13e6cfe4d542d273efad3e81657
http://hdl.handle.net/10807/132054

المؤلفون: JULIO PARDO, Gerardo Gutiérrez-Gutiérrez, Roberto Fernandez-Torron, Antonio Guerrero Sola, Celedonio Marquez-Infante, Jaume Coll-Canti, Carlos Casasnovas, TANIA GARCIA-SOBRINO, Jordi Diaz-Manera, ALBA RAMOS-FRANSI, Carlos Casasnovas Pons

المصدر: European Journal of Neurology. 22:1056-1061

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Population, Late onset, Disease, Enteral Nutrition, Risk Factors, Internal medicine, Myasthenia Gravis, Outcome Assessment, Health Care, medicine, Humans, Weaning, Registries, education, Feeding tube, Retrospective Studies, education.field_of_study, Plasma Exchange, business.industry, Incidence, Incidence (epidemiology), Middle Aged, medicine.disease, Dysphagia, Myasthenia gravis, Surgery, Neurology, Spain, Female, Neurology (clinical), medicine.symptom, Deglutition Disorders, Respiratory Insufficiency, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1891c9a30494843783877cab28791454
https://doi.org/10.1111/ene.12703

المؤلفون: Alicia Martínez-Piñeiro, Alejandro Lucia, Gisela Nogales-Gadea, Cristina Carrato, Alba Ramos-Fransi, Jaume Coll-Cantí, Alfonsina Ballester-Lopez, Pilar Camaño, Miriam Almendrote, Giuseppe Lucente

مصطلحات موضوعية: 0301 basic medicine, Genetics, Biology, Genética humana, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Proteínas, Proteína, Valosin Containing Protein Gene, Neurology (clinical), Novel mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc865231f7d0120f2d6ddffbc60c607e
https://hdl.handle.net/11268/7741