المؤلفون: Andrés Nascimento, Angels García-Cazorla, Abel Sola, Jaume Colomer, Daniel Natera-de Benito, Carlos Ortez, Jordi Muchart, Susana Boronat, Judith Armstrong, Paulo Rego Sousa, Francesc Palau, Cristina Jou, Janet Hoenicka, Mónica Rebollo, Jessica Expósito-Escudero, Laura Carrera-García

المصدر: PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ATP7A, Occipital horn syndrome, medicine.disease_cause, Cutis Laxa, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Internal medicine, Distal hereditary motor neuropathy, ATP7B, Medicine, Humans, Expressivity (genetics), Child, Mutation, Portugal, Região Autónoma da Madeira, business.industry, Copper toxicity, Copper replacement therapy, medicine.disease, Phenotype, Pedigree, ATP7A Gene, Endocrinology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Menkes disease, Ehlers-Danlos Syndrome, Neurology (clinical), business, 030217 neurology & neurosurgery, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1612c7f928bafcaf901dd15005785Test
https://pubmed.ncbi.nlm.nih.gov/33894639Test

المؤلفون: Jaume Colomer, Angela Abicht, M.J. Trujillo-Tiebas, Juan J. Vílchez, D. Natera-de Benito, A. García-Ribes, M. Bestué, Andrés Nascimento, M. García-Hoyos, Teresinha Evangelista, Hanns Lochmüller, Ana Camacho, Marina Dusl, Esther Jiménez, Ana Töpf, Carlos Ortez

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
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, 3,4-diaminopyridine, Muscle Proteins, Neuromuscular junction, medicine.disease_cause, 0302 clinical medicine, Ptosis, Young adult, 4-Aminopyridine, Child, Genetics (clinical), Pyridostigmine, Rapsyn, Mutation, Congenital myasthenic syndrome, Middle Aged, 3. Good health, RAPSN, medicine.anatomical_structure, Phenotype, Neurology, Child, Preschool, Disease Progression, Female, medicine.symptom, Amifampridine, Pyridostigmine Bromide, Adult, medicine.medical_specialty, Proximal muscle weakness, Neck muscle weakness, Adolescent, 03 medical and health sciences, Young Adult, Congenital myasthenia, Internal medicine, medicine, Potassium Channel Blockers, Humans, Myasthenic Syndromes, Congenital, business.industry, medicine.disease, 030104 developmental biology, Endocrinology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Cholinesterase Inhibitors, business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56227f85b1e955c528e8798d019d8e91Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8976Test

المؤلفون: O. Osorio-Conles, Cristina Jou, Guerau Fernandez, Cecilia Jimenez-Mallebrera, Andrés Nascimento, M. Puigdelloses, Susana G. Kalko, Marta Montori-Grau, Maria Angels Rodríguez, Carlos Ortez, Jaume Colomer

المصدر: Neuromuscular Disorders. 26:S188

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Skeletal muscle, 030209 endocrinology & metabolism, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Collagen VI, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Glucose homeostasis, Neurology (clinical), Endotrophin, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::207598ea86890981521ce984d4655f38Test
https://doi.org/10.1016/j.nmd.2016.06.370Test

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