المؤلفون: Teresa Gidaro, Julien Durigneux, Emma Pierce-Hoffman, Fabio Catervi, Johann Böhm, Alan H. Beggs, Adnan Yuksel, Montse Olivé, Casie A. Genetti, Raul Juntas-Morales, Isabelle Duband-Goulet, Nicolas Deconinck, Norma B. Romero, Eva Cabet, Rocío-Nur Villar-Quiles, Asuman Koparir, Ana Ferreiro, Jocelyn Laporte, Xavière Lornage, Mireille Cossée, John Rendu, Sandra Coppens, Lara Servais

المساهمون: Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Biruni University, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA, Partenaires INRAE, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des Maladies Neuromusculaires AOC, Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital and Harvard Medical School, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), 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), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Mühendislik ve Doğa Bilimleri Fakültesi

المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Annals of neurology, 87 (2
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Ann Neurol

مصطلحات موضوعية: Male, TRANSCRIPTION COACTIVATOR, 0301 basic medicine, Pathology, animal diseases, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle Proteins, medicine.disease_cause, SIGNAL COINTEGRATOR 1, 0302 clinical medicine, Fibroblasts -- physiology, Amyotrophic lateral sclerosis, Child, Cells, Cultured, Mutation, ABNORMALITIES, Cell Cycle -- physiology, Cell Cycle, PROLIFERATION, hemic and immune systems, Sciences bio-médicales et agricoles, Middle Aged, MUSCLE, Pedigree, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Transcription Factors -- genetics, medicine.symptom, tissues, D3, G1 phase, Adult, endocrine system, medicine.medical_specialty, Amino Acid Transport System y+, DISORDERS, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Article, 03 medical and health sciences, Muscular Diseases, Neurologie, medicine, Humans, Amino Acid Transport System y+ -- metabolism -- physiology, Muscle, Skeletal, Cell Cycle Protein, Myopathy, business.industry, Infant, Spinal muscular atrophy, Fibroblasts, medicine.disease, GENE, Congenital myopathy, eye diseases, MUSCULAR-DYSTROPHY, ADIPOGENESIS, 030104 developmental biology, Muscular Diseases -- genetics -- physiopathology, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881c9cf3fea17bc40c4af016cc68a5c5Test
https://doi.org/10.1002/ana.25660Test

المؤلفون: Tobias Schmidt Nielsen, Nikolai Baastrup Nordsborg, Magni Mohr, Paul S. Bradley, Peter Krustrup, Karl Olsson, Ioannis G. Fatouros, Tobias Christensson, Dan Fransson

المصدر: European Journal of Applied Physiology
Fransson, D, Nielsen, T S, Olsson, K, Christensson, T, Bradley, P S, Fatouros, I G, Krustrup, P, Nordsborg, N B & Mohr, M 2018, ' Skeletal muscle and performance adaptations to high-intensity training in elite male soccer players : speed endurance runs versus small-sided game training ', European Journal of Applied Physiology, vol. 118, no. 1, pp. 111-121 . https://doi.org/10.1007/s00421-017-3751-5Test

مصطلحات موضوعية: Male, medicine.medical_specialty, Sports medicine, Physiology, Football, Muscle Proteins, High-Intensity Interval Training, SOD2 protein, Na+-K+ ATPase activity, RC1200, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endurance training, Physiology (medical), Internal medicine, Soccer, Exercise performance, Humans, Medicine, Orthopedics and Sports Medicine, Muscle, Skeletal, Muscle fatigue, Muscle Proteins/genetics, High-Intensity Interval Training/adverse effects, Muscle, Skeletal/metabolism, business.industry, Soccer/physiology, High intensity, Public Health, Environmental and Occupational Health, Skeletal muscle, 030229 sport sciences, General Medicine, QP, Adaptation, Physiological, Antioxidant capacity, Intermittent exercise, medicine.anatomical_structure, Metabolic enzymes, Physical Endurance, Physical therapy, Cardiology, Original Article, Na+–K+ ATPase activity, business, Muscle oxidative capacity, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fd6d620ead8651c3b9de9f27a5122fTest
https://doi.org/10.1007/s00421-017-3751-5Test

المؤلفون: Henning Andersen, David Gaist, Henrik Daa Schrøder, Jens Mogensen, Jens Michael Hertz, John Vissing, Emil Greve Pedersen

المصدر: Gaist, D, Mogensen, J, Pedersen, E G, Schroder, H D, Vissing, J, Andersen, H & Hertz, J M 2017, ' DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency ', Journal of the Neurological Sciences, vol. 379, pp. 217-218 . https://doi.org/10.1016/j.jns.2017.06.005Test
Gaist, D, Mogensen, J, Pedersen, E G, Schrøder, H D, Vissing, J, Andersen, H & Hertz, J M 2017, ' DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency ', Journal of the Neurological Sciences, vol. 379, pp. 217-218 . https://doi.org/10.1016/j.jns.2017.06.005Test

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, PROLAPSE, DOK7 congenital myasthenia, Congenital myasthenia, Cardiac disease, 03 medical and health sciences, Mitral Valve Insufficiency/complications, 0302 clinical medicine, Mitral valve, Internal medicine, Myasthenic Syndromes, Congenital/complications, medicine, Humans, Muscle Proteins/genetics, MUTATIONS, business.industry, Genetic Predisposition to Disease/genetics, Siblings, Middle Aged, 030104 developmental biology, medicine.anatomical_structure, Mitral valve disease, Neurology, Mutation, Mutation (genetic algorithm), Cardiology, Female, Neurology (clinical), business, Neuromuscular disorders, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c89644139cf3a987757e97a6efda17cTest
https://doi.org/10.1016/j.jns.2017.06.005Test

المؤلفون: Hans H. Jung, Michael Sinnreich, Jens A. Petersen, Wolfram Kress, Thierry Kuntzer, Angela Huebner, Elisabeth J. Rushing, Maja von der Hagen, Johannes Alexander Lobrinus, Veronika Kana, Dirk Fischer

المساهمون: University of Zurich, Petersen, Jens A

المصدر: BMC Neurology, Vol. 15 (2015) P. 182
BMC neurology
BMC Neurology
Bmc Neurology, vol. 15, no. 1, pp. 182

مصطلحات موضوعية: Adult, Male, Heterozygote, Dysferlinopathy, Adolescent, Clinical Neurology, 10208 Institute of Neuropathology, Muscle Proteins, 610 Medicine & health, ddc:616.07, medicine.disease_cause, Dysferlin, Young Adult, medicine, Humans, Myopathy, ddc:611, Genetics, Mutation, biology, Genetic heterogeneity, business.industry, Homozygote, Haplotype, Membrane Proteins, General Medicine, Anatomy, Middle Aged, medicine.disease, Founder Effect, 10040 Clinic for Neurology, 3. Good health, 2728 Neurology (clinical), Phenotype, Muscular Dystrophies, Limb-Girdle, Female, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Switzerland, biology.protein, Neurology (clinical), medicine.symptom, business, Research Article, Limb-girdle muscular dystrophy, Founder effect

وصف الملف: s12883-015-0449-3.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5d47ec334c3e9a41a950925d0c5859Test
https://doi.org/10.1186/s12883-015-0449-3Test

المؤلفون: Jacques S. Beckmann, Melissa J. Spencer

المصدر: Neuromuscular Disorders, vol. 18, no. 12, pp. 913-921

مصطلحات موضوعية: Sarcomeres, Gene isoform, Muscle Proteins, Models, Biological, Sarcomere, Article, medicine, Animals, Humans, Calpain/genetics, Calpain/metabolism, Muscle Proteins/genetics, Muscle Proteins/metabolism, Muscular Dystrophies, Limb-Girdle/genetics, Muscular Dystrophies, Limb-Girdle/metabolism, Mutation, Sarcomeres/metabolism, Muscular dystrophy, Genetics (clinical), Loss function, Genetics, biology, Calpain, Dystrophy, medicine.disease, Cell biology, Muscular Dystrophies, Limb-Girdle, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Titin, Neurology (clinical), Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d38571d4127b7b2f9c161021bded730Test
https://doi.org/10.1016/j.nmd.2008.08.005Test

المؤلفون: Laure Grand Moursel, Rune R. Frants, Jun Wang, René E. M. Toes, Ivana Bagaric, Silvère M. van der Maarel, Eduard Gallardo, Bàrbara Flix, Antoine de Morrée, Isabel Illa, Marlinde L. van den Boogaard

المصدر: JOURNAL OF BIOLOGICAL CHEMISTRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Biological Chemistry, 288(20), 14147-14157
de Morrée, A, Flix, B, Bagaric, I, Wang, J, van den Boogaard, M, Grand Moursel, L, Frants, R R, Illa, I, Gallardo, E, Toes, R & van der Maarel, S M 2013, ' Dysferlin regulates cell adhesion in human monocytes ', The Journal of Biological Chemistry, vol. 288, no. 20, pp. 14147-14157 . https://doi.org/10.1074/jbc.M112.448589Test

مصطلحات موضوعية: Monocytes/cytology, Dysferlinopathy, Integrin, Cell, Muscle Proteins, Biology, Biochemistry, Monocytes, Muscular Dystrophies, Dysferlin, Cell membrane, medicine, Cell Adhesion, Humans, Muscular Dystrophies/metabolism, Membrane Proteins/genetics, Muscle, Skeletal, Cell adhesion, Molecular Biology, Inflammation, Muscle Proteins/genetics, Muscle, Skeletal/metabolism, Monocyte, Macrophages, Integrin beta3, Muscular Dystrophies, Limb-Girdle/genetics, Membrane Proteins, Cell Differentiation, Cell Biology, biochemical phenomena, metabolism, and nutrition, medicine.disease, Cell biology, Fibronectin, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Gene Expression Regulation, Immune System, Mutation, biology.protein, Integrin beta3/metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5bf61dc43b228f7acaa8aa2ad1ec10Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10011Test

المؤلفون: Herman H. H. B. M. van Haagen, Martijn J. Schuemie, D.J.M. (Dorien) Peters, Willeke M. C. van Roon-Mom, Gert-Jan B. van Ommen, Antoine de Morrée, Marco Roos, Peter A C 't Hoen, Barend Mons

المساهمون: Obstetrics & Gynecology, Medical Informatics

المصدر: Proteomics, 11(5), 843-853. Wiley-VCH
Proteomics
Proteomics, 11(5), 843-53
van Haagen, H H H B M, 't Hoen, P A C, de Morrée, A, van Roon-Mom, W M C, Peters, D J M, Roos, M, Mons, B, van Ommen, G-J & Schuemie, M J 2011, ' In silico discovery and experimental validation of new protein-protein interactions ', Proteomics, vol. 11, no. 5, pp. 843-53 . https://doi.org/10.1002/pmic.201000398Test

مصطلحات موضوعية: Huntingtin, Gene Expression, Muscle Proteins, Biochemistry, Muscular Dystrophies, Dysferlin, Mice, Protein Interaction Mapping, Polycystic kidney disease, Muscular Dystrophies/genetics, Nerve Tissue Proteins/genetics, Molecular Targeted Therapy, Databases, Protein, Huntington Disease/genetics, Muscle Proteins/genetics, Genetics, Huntingtin Protein, Polycystic Kidney Diseases, String (computer science), Nuclear Proteins, Experimental validation, Polycystic Kidney Diseases/genetics, Huntington Disease, Drosophila, Algorithms, Protein Binding, Protein Interaction Mapping/methods, In silico, Protein domain, Nerve Tissue Proteins, Biology, Protein–protein interaction, SDG 3 - Good Health and Well-being, Predictive Value of Tests, medicine, Animals, Humans, RNA, Messenger, Membrane Proteins/genetics, Molecular Biology, Probability, Computational Biology, Membrane Proteins, Computational Biology/methods, medicine.disease, Protein Structure, Tertiary, Nuclear Proteins/genetics, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8f414fbdcc4e4342618b6a4c49c85eTest
https://pubmed.ncbi.nlm.nih.gov/21280221Test

المؤلفون: T. De Ravel, Desire Collen, Gert Matthijs, Cuno Kuiperi, Els Schollen, Hein Heidbuchel, Peter Carmeliet, T Rossenbacker, Koenraad Devriendt

المساهمون: Clinical sciences, Medical Genetics, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Pathologic Biochemistry and Physiology

المصدر: Journal of medical genetics. 42(5)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, RNA Splicing, Arrhythmias, Cardiac/genetics, DNA Mutational Analysis, Sodium Channels/genetics, Muscle Proteins, NAV1.5 Voltage-Gated Sodium Channel, Biology, medicine.disease_cause, Models, Biological, Sodium Channels, Introns/genetics, Channelopathy, Molecular genetics, Genetics, Intronic Mutation, medicine, Humans, cardiovascular diseases, Allele, RNA Splice Sites/genetics, Child, Genetics (clinical), Alleles, Brugada syndrome, RNA Splicing/physiology, Aged, Muscle Proteins/genetics, Mutation, Arrhythmias, Cardiac, Syndrome, Middle Aged, medicine.disease, Molecular biology, Phenotype, Introns, Pedigree, cardiovascular system, Female, RNA Splice Sites, Online Mutation Report

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5e33e2a649a63317eead4dc7ce2c95Test
https://pubmed.ncbi.nlm.nih.gov/15863661Test