المؤلفون: A. Santana-Artiles, Angela Abicht, M. Bestué, P.M. Rodriguez Cruz, Grace McMacken, Ana Camacho, Juliane S. Müller, Juan J. Vílchez, Andrés Nascimento, Lidia Gonzalez-Quereda, J. Domínguez-Carral, Marina Dusl, Esther Jiménez, Pia Gallano, A. Paipa Merchan, Teresinha Evangelista, Yoshiteru Azuma, Ana Töpf, Hanns Lochmüller, Carlos Ortez, Montse Olivé, O. García-Campos, Jan Senderek, N. Muelas, J. Diaz-Manera, R. Dominguez-Rubio, D. Natera-de Benito, David Beeson, Jaume Colomer, A. García-Ribes, María Concepción Miranda-Herrero

المصدر: NEUROMUSCULAR DISORDERS
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
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Slow-channel syndrome, Adolescent, Neuromuscular transmission, GMPPB, Gene mutation, COLQ, Congenital myasthenic syndrome, Young Adult, 03 medical and health sciences, 0302 clinical medicine, DOK7, medicine, Humans, CHRNE, Gene, Genetics (clinical), health care economics and organizations, Myasthenic Syndromes, Congenital, Genetics, biology, RAPSN, Middle Aged, medicine.disease, Phenotype, 3. Good health, Genetic mutations, 030104 developmental biology, GFPT1, Neurology, Spain, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b967c96669f268f9a18032854a15ab37Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13108Test

المؤلفون: D. Natera-de Benito, Andrés Nascimento, Juan J. Vílchez, Nuria Muelas, Carlos Ortez, Teresa Jaijo, J. Domínguez-Carral, Jaume Colomer, R. Arteaga

المصدر: NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Roma, Acetylcholine receptor, Neuromuscular junction, Pyridostigmine, Disease, Receptors, Nicotinic, 0302 clinical medicine, CHRNE, Child, Genetics (clinical), Genetics, Facial weakness, Congenital myasthenic syndrome, Middle Aged, Phenotype, Neurology, Mutation (genetic algorithm), Congenital myasthenia, Female, medicine.symptom, Adult, medicine.medical_specialty, Neck muscle weakness, Adolescent, Biology, 03 medical and health sciences, Young Adult, 3,4-Diaminopyridine, medicine, Humans, Family, Allele, Founder mutation, Myasthenic Syndromes, Congenital, Roma gypsies, Genetic heterogeneity, medicine.disease, 030104 developmental biology, Spain, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dbc0b1a1b7a90461d7028b21e6fad9cTest
https://pubmed.ncbi.nlm.nih.gov/27634344Test

المؤلفون: Cristina Jou, Julita Medina, M. Vigo, Jaume Colomer, Carlos Ortez, M. Alarcón, C. Jimenez-Mallebrera, A. Codina, Andrés Nascimento, A. Frongia, D. Natera-de Benito

المصدر: Neuromuscular Disorders. 27:S105

مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, business.industry, Phenotype, 03 medical and health sciences, 0302 clinical medicine, Neurology, Collagen VI, Pediatrics, Perinatology and Child Health, Medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1335cf50ab6339e3130928415cdcb7aaTest
https://doi.org/10.1016/j.nmd.2017.06.052Test

المؤلفون: Jaume Campistol, Desiree Henares, Eduardo Ruiz-Pesini, Federico Ramos, Mercedes Pineda, Cecilia Jimenez-Mallebrera, Delia Yubero, Julio Montoya, Francesc Villarroya, Belén Pérez-Dueñas, Mar O'Callaghan, María Angeles Davia Rodríguez, Rafael Artuch, Jaume Colomer Oferil, Marija Meznaric, Angeles Garcia-Cazorla, Andrés Nascimento, Raquel Montero, Carlos Ortez, Sonia Emperador, Susana G. Kalko, Laura Campderrós, Cristina Jou, Joan Villarroya

المساهمون: Universitat de Barcelona

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS One
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
PLoS ONE
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE, Vol 11, Iss 2, p e0148709 (2016)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

مصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial Diseases, Muscle Fibers, Skeletal, lcsh:Medicine, Gene Expression, Mitochondrion, Biochemistry, Mitocondris, Cohort Studies, Myoblasts, Mice, Families, 0302 clinical medicine, Medicine and Health Sciences, Myocyte, lcsh:Science, Child, Musculoskeletal System, Children, Energy-Producing Organelles, Multidisciplinary, Muscles, Area under the curve, Neuromuscular Diseases, Mitochondrial DNA, Mitochondria, Nucleic acids, medicine.anatomical_structure, Child, Preschool, embryonic structures, Biomarker (medicine), Female, Cellular Structures and Organelles, Anatomy, Infants, Research Article, medicine.medical_specialty, Growth Differentiation Factor 15, Adolescent, Forms of DNA, Mitochondrial disease, Biology, Bioenergetics, Sensitivity and Specificity, Cell Line, 03 medical and health sciences, Diagnostic Medicine, Internal medicine, medicine, Genetics, Animals, Humans, RNA, Messenger, Muscle, Skeletal, Clinical Genetics, Biology and life sciences, lcsh:R, Skeletal muscle, Infant, Reproducibility of Results, Correction, Proteins, Cell Biology, DNA, medicine.disease, Fibroblast Growth Factors, 030104 developmental biology, Endocrinology, ROC Curve, Skeletal Muscles, Age Groups, Case-Control Studies, People and Places, Mutation, lcsh:Q, Population Groupings, GDF15, Proteïnes, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::551ab159e363f87dbeac3cd0e9697fabTest
http://hdl.handle.net/2445/104493Test