المؤلفون: Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, Thomas Krag, Willem De Ridder, Peter De Jonghe, Jonathan Baets, Kristl G Claeys, Roberto Fernández-Torrón, Lauren Phillips, Ana Topf, Jaume Colomer, Shahriar Nafissi, Shirin Jamal-Omidi, Celine Bouchet-Seraphin, France Leturcq, Daniel G MacArthur, Monkol Lek, Liwen Xu, Isabelle Nelson, Volker Straub, John Vissing

المساهمون: University of Copenhagen = Københavns Universitet (UCPH), Newcastle University [Newcastle], Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Vlaams Instituut voor Biotechnologie [Ghent, Belgique] (VIB), University of Antwerp (UA), Antwerp University Hospital [Edegem] (UZA), University Hospitals Leuven [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Biodonostia Health Research Institute [Donostia-San Sebastian, Spain] (IIS Biodonostia), Hospital Sant Joan de Déu [Barcelona], Tehran University of Medical Sciences (TUMS), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Cochin [AP-HP], Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Allamand, Valérie

المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (5), pp.506-512. ⟨10.1136/jnnp-2017-317018⟩
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of neurology, neurosurgery and psychiatry

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, [SDV]Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, Atrophy, Internal medicine, Medicine, Muscular dystrophy, Gluteal muscles, Biology, Muscle biopsy, medicine.diagnostic_test, business.industry, Anatomy, medicine.disease, Hyperintensity, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, Cardiology, Congenital muscular dystrophy, Surgery, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Hamstring, Limb-girdle muscular dystrophy

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa5afff53bcec5e4af09fa23beaa094Test
https://hal.science/hal-03864445Test

المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

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: Friederike Hoellen, Gerhard Kurlemann, Agnes Herczegfalvi, Mohammad M. Kabiraj, Enrico Bertini, Juan J. Vílchez, Mustafa A. Salih, Adele D'Amico, Joachim Wölfle, Angela Abicht, Dana Siskova, Vedrana Milic Rasic, Jaume Colomer, Katarina Fabriciova, Juliane S. Müller, Ulrike Schara, Hanns Lochmüller, V. Mihaylova, Felix Schreiner, Bernhard Weschke, Rosana Herminia Scola

المصدر: Brain. 131:747-759

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Eye Movements, Genotype, Biopsy, Medizin, Neuromuscular transmission, Action Potentials, Muscle Proteins, Angiotensin-Converting Enzyme Inhibitors, Bioinformatics, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, COLQ, medicine, Humans, CHRNE, Age of Onset, Child, Muscle, Skeletal, 030304 developmental biology, Myasthenic Syndromes, Congenital, 0303 health sciences, biology, Infant, Newborn, Genetic disorder, Infant, Congenital myasthenic syndrome, medicine.disease, Acetylcholinesterase, Electric Stimulation, Myasthenia gravis, 3. Good health, Phenotype, Treatment Outcome, chemistry, Child, Preschool, Mutation, biology.protein, Female, Collagen, Neurology (clinical), Esterase inhibitor, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9eae3970323ff8f8f2325160399063Test
https://doi.org/10.1093/brain/awm325Test

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