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المؤلفون: Jon Andoni Urtizberea, Johanna Palmio, Per Harald Jonson, Montse Olivé, P. Hackman, A. Vihola, B. Udd, Federico García-Bragado, Cobo Am, Jaakko Sarparanta, Marco Savarese, J. Weinberg, J. J. Poza
المصدر: Neuromuscular Disorders. 29:S120-S121
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Myopathy, ACTN2 gene, business, Genetics (clinical)
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المؤلفون: Jon Andoni Urtizberea, Camacho, Salas, A, Olivar, Roldan, J, Eulalio, Barcena, J, M. Rabasa, A. Ramos, H. Pérez, Garcia, Pavia, P, Gustavo Zapata-Wainberg, Rubio, Perez, Ma, Cabezudo, Garcia, P, Gallano, Petit, Mp, Roberto Fernández-Torrón, Casanova, Rodriguez, C, Moreno, Zabaleta, R, López de Munain A, Rosado, Bartolome, A, Poza, Aldea, Jj, I. Jericó, Jordi Díaz-Manera, Diaz, Guardiola, P, José Luis Muñoz-Blanco, Peinado, Peinado, R, Pascual, Pascual, Si, Eduardo Gutiérrez-Rivas, Kapetanovic, Garcia, S, Moris, de, la, Tassa, G, Gutierrez, Gutierrez, G, Loreto Martorell, Gomez, Gallego, M, S. Azriel, Gutierrez, Martinez, Aj, Miriam Almendrote, Cobo Am
المساهمون: UAM. Departamento de Medicina, UAM. Departamento de Pediatría
المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Addi. Archivo Digital para la Docencia y la Investigación
Neurología, Vol 35, Iss 3, Pp 185-206 (2020)مصطلحات موضوعية: medicine.medical_specialty, complications, dysphagia, lung-function, Medicina, Enfermedad de Steinert, Disfagia, Disease, Guía clínica, Myotonic dystrophy, lcsh:RC346-429, Enfermedadde Steinert, 03 medical and health sciences, 0302 clinical medicine, cardiac abnormalities, Distrofia miotónica tipo 1, medicine, cancer-risk, myotonic dystrophy type 1, lcsh:Neurology. Diseases of the nervous system, childhood, Distrofia miotónicatipo 1, Gynecology, long-term, clinical guideline, business.industry, General Medicine, daytime sleepiness, medicine.disease, muscle involvement, Complicaciones, frequency, recommendations, Recomendaciones, muscular-dystrophy, Neurology (clinical), steinert's disease, business, oral-health, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70faba040586ada6f40caf7134e9482e
http://hdl.handle.net/10486/692384 -
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المؤلفون: Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell-Sampol L, Otaegui D, Matheu A, López de Munain A
المصدر: Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de DéuURL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::454974b5dbb399c04cb9b136206cdd8a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10020 -
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المؤلفون: J. J. Poza, A. López de Munain, Cobo Am, Jose Felix Marti-Masso, Jose I. Emparanza, H. Imaz, Andone Sistiaga, David Otaegui, M. Jodar, I. Urreta, José Joaquín Merino
المصدر: Psychological Medicine. 40:487-495
مصطلحات موضوعية: Adult, Male, Millon Clinical Multiaxial Inventory, medicine.medical_specialty, Adolescent, Personality Inventory, media_common.quotation_subject, Neuropsychological Tests, Protein Serine-Threonine Kinases, Polymerase Chain Reaction, Myotonic dystrophy, Myotonin-Protein Kinase, Young Adult, medicine, Humans, Myotonic Dystrophy, Personality, Young adult, Psychiatry, Applied Psychology, Aged, Repetitive Sequences, Nucleic Acid, media_common, Psychiatric Status Rating Scales, Analysis of Variance, Cognitive disorder, Cognitive flexibility, Neuropsychology, Cognition, Middle Aged, medicine.disease, Blotting, Southern, Psychiatry and Mental health, Spain, Female, Cognition Disorders, Trinucleotide Repeat Expansion, Psychology, Clinical psychology
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المؤلفون: Adolfo López de Munain, Norma B. Romero, Christophe Pécheux, Martin Krahn, Rafaëlle Bernard, Bruno Eymard, Cobo Am, Nicolas Lévy, Andoni Urtizberea, El Hadi Hammouda
المصدر: Clinical Genetics. 69:444-449
مصطلحات موضوعية: Text mining, business.industry, Medical screening, Genetics, Medicine, In patient, Bioinformatics, business, Gene, Genetics (clinical)
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6Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation
المؤلفون: M El-Dassouki, E Cassotte, Cobo Am, Jean Pouget, J F Pellissier, S Tong, Dominique Figarella-Branger, J P Azulay, Amets Sáenz, P. Malzac
المصدر: Neuromuscular Disorders. 12:4-12
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Weakness, Dysferlinopathy, Adolescent, Biopsy, Muscle Fibers, Skeletal, Gene Expression, Muscle Proteins, Biology, Muscular Dystrophies, Dystrophin, Dysferlin, Genetic Heterogeneity, medicine, Humans, Myopathy, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, Calpain, Facial weakness, Membrane Proteins, Dystrophy, Middle Aged, medicine.disease, Immunohistochemistry, Phenotype, Neurology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), Follicle Stimulating Hormone, medicine.symptom
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المؤلفون: A. López de Munain, N. Cheron, D. Grid, M. Urtasun, Angel Martínez-Gil, Jacques S. Beckmann, Cobo Am, Jose Felix Marti-Masso, J. J. Poza, Jean-François Prud'homme, Amets Sáenz
المصدر: Annals of Neurology. 45:182-188
مصطلحات موضوعية: Chromosome, medicine.disease, Penetrance, Temporal lobe, Central nervous system disease, Drug withdrawal, Neurology, Epilepsy syndromes, medicine, Ictal, Neurology (clinical), Age of onset, Psychology, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bfc459ea7b44fec738a3c449bad0dfeb
https://doi.org/10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g -
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المؤلفون: J.F. Martí-Massó, Amets Sáenz, A. López de Munain, J. J. Poza, Montserrat Baiget, A. Blanco, Loreto Martorell, Cobo Am
المصدر: Genetic Epidemiology. 13:483-487
مصطلحات موضوعية: musculoskeletal diseases, Untranslated region, Genetics, Epidemiology, Offspring, Biology, Myotonia, medicine.disease, Myotonic dystrophy, Asymptomatic, medicine, Allele, Muscular dystrophy, medicine.symptom, Trinucleotide repeat expansion, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::727c0aaa0a5cc5264dfcd3b7423423e5
https://doi.org/10.1002/(sici)1098-2272(1996)13:5<483::aid-gepi4>3.0.co;2-3 -
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المؤلفون: Luciano Merlini, Dominique Figarella-Branger, M. Goicoechea, J. J. Poza, Cobo Am, Jose Felix Marti-Masso, J.I. Emparanza, Jon Andoni Urtizberea, David Otaegui, Bruno Eymard, M. Urtasun, Juan J. Vílchez, A. López de Munain, Maggie C. Walter, Pilar Camaño, Lorea Blazquez, C. Paisán, Amets Sáenz, Xavier Ferrer, E. Gutierrez-Rivas, F. Leturcq, Carsten G. Bönnemann, J.-C. Kaplan, Hanns Lochmüller
المصدر: Brain : a journal of neurology. 128(Pt 4)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Blotting, Western, DNA Mutational Analysis, Mutation, Missense, Muscle Proteins, medicine.disease_cause, Exon, Internal medicine, Medicine, Coding region, Humans, Muscular dystrophy, Age of Onset, Child, Gene, Retrospective Studies, Genetics, Mutation, business.industry, Calpain, Bayes Theorem, Middle Aged, medicine.disease, Isoenzymes, Phenotype, Muscular Dystrophies, Limb-Girdle, Disease Progression, Female, Neurology (clinical), Age of onset, business, Limb-girdle muscular dystrophy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4683a4b5afc51199c4dc2ee83c1e7ffb
https://pubmed.ncbi.nlm.nih.gov/15689361 -
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المؤلفون: J. J. Poza, A. López de Munain, A. Blanco, Cobo Am, Amets Sáenz, Margarita Azpitarte, J Marchessi, J. F. Marti Masso
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Eye disease, Population, Polymerase Chain Reaction, Myotonic dystrophy, Cataract, Sex Factors, Cataracts, Risk Factors, Internal medicine, Epidemiology, Diabetes Mellitus, Prevalence, Genetics, medicine, Humans, Myotonic Dystrophy, Prospective Studies, education, Genetics (clinical), Aged, Repetitive Sequences, Nucleic Acid, Aged, 80 and over, Analysis of Variance, Sex Characteristics, education.field_of_study, Diabetic Retinopathy, business.industry, Genetic Carrier Screening, Incidence, Age Factors, Myotonic dystrophy gene, DNA, Middle Aged, Myotonia, medicine.disease, Spain, Mutation (genetic algorithm), Female, business, Research Article
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