المؤلفون: André Maues De Paula, Stéphane Roche, Julia Torrents, Marie Cécile Gaillard, Frédérique Magdinier, Henry Dufour, Natacha Broucqsault, Claude Desnuelle, Laure Sarda, Marc Bartoli, Carla Fernandez, Emmanuelle Salort-Campana, Karine Nguyen, Julie Dumonceaux, Anne Laure Chesnais, Julia Morere, Maxime Ferreboeuf, Shahram Attarian, Nicolas Lévy

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'Anatomie et Cytologie Pathologiques, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), Lattice - Langues, Textes, Traitements informatiques, Cognition - UMR 8094 (Lattice), Université Sorbonne Nouvelle - Paris 3-Université Sorbonne Paris Cité (USPC)-Centre National de la Recherche Scientifique (CNRS)-Université Paris sciences et lettres (PSL)-Département Littératures et langage - ENS Paris (LILA), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL), Service de neurochirurgie [CHU Marseille], Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de signalisation, biologie du développement et cancer (ISBDC), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Département Littératures et langage - ENS Paris (LILA), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Sorbonne Paris Cité (USPC)-Université Sorbonne Nouvelle - Paris 3, Service de neurochirurgie, Université Nice Sophia Antipolis (... - 2019) (UNS), Département Littératures et langage (LILA), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)

المصدر: Human Molecular Genetics
Human Molecular Genetics, 2013, 22 (20), pp.4206-4214. ⟨10.1093/hmg/ddt272⟩
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (20), pp.4206-4214. ⟨10.1093/hmg/ddt272⟩

مصطلحات موضوعية: musculoskeletal diseases, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Develoment, DUX4, Locus (genetics), Penetrance, Biology, Muscle Development, 03 medical and health sciences, 0302 clinical medicine, Fetus, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular dystrophy, Molecular Biology, Genetics (clinical), 030304 developmental biology, MyoD Protein, Repetitive Sequences, Nucleic Acid, Homeodomain Proteins, 0303 health sciences, FSHD, D4Z4, Myogenesis, Dystrophy, Gene Expression Regulation, Developmental, Cell Differentiation, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, General Medicine, medicine.disease, Subtelomere, Muscular Dystrophy, Facioscapulohumeral, MYOD1, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Organ Specificity, Case-Control Studies, Muscle, Chromosomes, Human, Pair 4, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76aec7c466d50eeeb3833d86c47f95b8Test
https://amu.hal.science/hal-01662672/file/ddt272.pdfTest

المؤلفون: Sophie Collardeau, Julia Morere, Virginie Mariot, Stéphane Roche, Vincent Mouly, Julie Dumonceaux, Sandra Whalen, Frédérique Magdinier, Bettina Bessières, Philippe Rameau, Alexandre Vasiljevic, Tania Attié-Bitach, Claude Desnuelle, Jérôme Robin-Ducellier, Gillian Butler-Browne, Maxime Ferreboeuf, Sabrina Sacconi

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (1965 - 2019) (UNS), RUIZ, Caroline

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2013, 23 (1), epub ahead of print. ⟨10.1093/hmg/ddt409⟩
Human Molecular Genetics, 2013, 23 (1), epub ahead of print. ⟨10.1093/hmg/ddt409⟩

مصطلحات موضوعية: Male, Pathology, DUX4, Muscle Fibers, Skeletal, Muscle Development, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Quadriceps Muscle, 0302 clinical medicine, RNA Isoforms, Protein Isoforms, Facioscapulohumeral muscular dystrophy, RNA, Small Interfering, Muscular dystrophy, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Cells, Cultured, Genetics (clinical), Regulation of gene expression, 0303 health sciences, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Myogenesis, Gene Expression Regulation, Developmental, General Medicine, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Muscle, Female, Adult, Gene isoform, medicine.medical_specialty, Biology, 03 medical and health sciences, Fetus, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BDD] Life Sciences [q-bio]/Development Biology, Biopsy, Genetics, medicine, Humans, Molecular Biology, 030304 developmental biology, Homeodomain Proteins, FSHD, Molecular markers, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Biomarker, medicine.disease, Molecular biology, Repressor Proteins, Superficial Back Muscles, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5da617fc64ef54a946f6a602b0aa99Test
https://hal.archives-ouvertes.fr/hal-00868855/file/ddt409.pdfTest

المؤلفون: R. Paul, Jean Pouget, C Butori, A. Saunières, Christian Richelme, Jean-François Pellissier, Véronique Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle

المصدر: European Journal of Human Genetics. 8:331-338

مصطلحات موضوعية: Male, Mitochondrial DNA, Sequence analysis, Pedigree chart, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, Intergenic region, Genetics, medicine, Humans, Child, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Cerebellar ataxia, Point mutation, Breakpoint, Sequence Analysis, DNA, Middle Aged, Molecular biology, Phenotype, Pedigree, Female, medicine.symptom, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d23bc38dc5c4560f70c576bac3218bTest
https://doi.org/10.1038/sj.ejhg.5200463Test

المؤلفون: Egbert Bakker, Merlijn P. van Nieuwenhuizen, Leonardo Salviati, Patrick J. van der Vliet, Silvère M. van der Maarel, Marianne Vos-Versteeg, Pauline Lahaut, Richard J.L.F. Lemmers, Rabi Tawil, Judit Balog, Kirsten R. Straasheijm, Stephen J. Tapscott, Alberto Casarin, Claude Desnuelle, Sabrina Sacconi, Elena Pegoraro, Rashmie D. Debipersad

المساهمون: Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)

المصدر: The American Journal of Human Genetics; Vol 93
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2013, epub ahead of print. ⟨10.1016/j.ajhg.2013.08.004⟩
American Journal of Human Genetics, 93(4), 744-751

مصطلحات موضوعية: Adult, Male, Polyadenylation, Adolescent, Chromosomal Proteins, Non-Histone, Molecular Sequence Data, Muscle Fibers, Skeletal, Biology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, DUX4, Report, medicine, Genetics, Facioscapulohumeral muscular dystrophy, Humans, Genetics(clinical), Amino Acid Sequence, Muscular dystrophy, Allele, Child, Gene, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Alleles, 030304 developmental biology, Aged, Homeodomain Proteins, 0303 health sciences, Base Sequence, Middle Aged, medicine.disease, Molecular biology, Muscular Dystrophy, Facioscapulohumeral, Chromatin, Pedigree, Chromosome 4, Mutation, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dce2e78cf74727f0bdf98a01bc9689bfTest
http://hdl.handle.net/11577/2682314Test

المؤلفون: Silvère M. van der Maarel, Pascal Boileau, Adolfo Lopez de Munain Arregui, Richard J.L.F. Lemmers, Sabrina Sacconi, Claude Desnuelle, Jessica C. de Greef, Leonardo Salviati, Pilar Camaño

المساهمون: CHU Nice, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Institute of Developmental Biology and Cancer (IBDC), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Dpt. of Pediatrics, Universita degli Studi di Padova, Service de Pédiatrie et Réanimations néonatales [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, epub ahead of print. ⟨10.1136/jmedgenet-2011-100101⟩
Journal of Medical Genetics, 49(1), 41-46

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Valosin-containing protein, DNA Mutational Analysis, Muscle Proteins, Cell Cycle Proteins, Article, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Valosin Containing Protein, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Respiratory function, Muscular dystrophy, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Genetic testing, Adenosine Triphosphatases, 0303 health sciences, Muscle biopsy, medicine.diagnostic_test, biology, Calpain, Mosaicism, Intracellular Signaling Peptides and Proteins, LIM Domain Proteins, Middle Aged, medicine.disease, Phenotype, FHL1, Muscular Dystrophy, Facioscapulohumeral, biology.protein, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65844c991f592829742c9bb274af1e5eTest
http://hdl.handle.net/11577/2513048Test

المؤلفون: Frédérique Magdinier, Françoise Helmbacher, Philippe Rameau, Claude Desnuelle, Julie Dumonceaux, Virginie Mariot, Débora M. Portilho, Vincent Mouly, Anne-Lise Delezoide, Francesca Puppo, Gillian Butler-Browne, Stephanie Duguez, Bettina Bessières, Nathalie Caruso, Sophie Collardeau, Stéphane Roche, Thierry Maisonobe, Christophe Hourdé, Sabrina Sacconi, Léonard Féasson

المصدر: Neuromuscular Disorders. 25:S312

مصطلحات موضوعية: Andrology, Correlation, Neurology, Expression (architecture), Pediatrics, Perinatology and Child Health, Neurology (clinical), Biology, Genetics (clinical), FAT1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5520a399b9da2272c548fdaeefba0e5dTest
https://doi.org/10.1016/j.nmd.2015.06.448Test

المؤلفون: Eva Trevisson, Karine Auré, Anne Lombès, Gabriele Siciliano, Sabrina Sacconi, Odile Rigal, Corrado Angelini, Paola Tonin, Leonardo Salviati, Ségolène Aymé, Alberto Garcia Redondo, Claude Desnuelle, Michelangelo Mancuso

المساهمون: Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), CHU Nice, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Dpt. of Pediatrics, Universita degli Studi di Padova, Cartographie du Genome Humain a des Fins de Recherche Clinique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie, Hôpital Robert Debré, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Università degli Studi di Padova = University of Padua (Unipd)

المصدر: Neuromuscul Disord
Neuromuscul Disord, 2010, 20 (1), pp.44-8. ⟨10.1016/j.nmd.2009.10.014⟩

مصطلحات موضوعية: Male, Ubiquinone, Myopathy, medicine.disease_cause, Bioinformatics, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, Mitochondrial myopathy, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Chromatography, High Pressure Liquid, Genetics, Aged, 80 and over, 0303 health sciences, Mutation, food and beverages, Mitochondrial Myopathies, Middle Aged, Phenotype, Treatment Outcome, Neurology, Child, Preschool, Female, medicine.symptom, Coenzyme Q10 deficiency, Adult, Mitochondrial DNA, Adolescent, Mitochondrial disease, Coenzyme Q10, Treatment, Biology, DNA, Mitochondrial, 03 medical and health sciences, Young Adult, medicine, Humans, Muscle, Skeletal, 030304 developmental biology, Aged, medicine.disease, chemistry, Coenzyme Q – cytochrome c reductase, Pediatrics, Perinatology and Child Health, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1512d6fae66b55769ff69c67f0055fTest
https://pubmed.ncbi.nlm.nih.gov/19945282Test

المؤلفون: Laetitia Davidovic, Severine Delplace, Sabrina Sacconi, Marilyn Allegra, Elias Bechara, Claude Desnuelle, Barbara Bardoni

المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), CHU Nice, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2008, epub ahead of print. ⟨10.1136/jmg.2008.060541⟩

مصطلحات موضوعية: Muscle Fibers, Skeletal, Gene Expression, RNA-binding protein, Biology, Myoblasts, 03 medical and health sciences, Fragile X Mental Retardation Protein, 0302 clinical medicine, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Protein Isoforms, Muscular dystrophy, Myopathy, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Myogenesis, RNA-Binding Proteins, medicine.disease, FMR1, Muscular Dystrophy, Facioscapulohumeral, Cell biology, Fragile X syndrome, Alternative Splicing, RNA splicing, medicine.symptom, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff06aac9ac771707e4f41ff9d3e54b9fTest
https://pubmed.ncbi.nlm.nih.gov/18628314Test

المؤلفون: Anneke J. van der Kooi, Marianne de Visser, Eva Morava, Ana Ferreiro, Annie Laquerrière, Jean Jacques Martin, Annick Rossi, Sabrina Sacconi, Julien Fauré, Isabelle Marty, Brigitte Estournet, L. Lazaro, Joël Lunardi, Nicole Monnier, Claudia Castiglioni, Corien Verschuuren, Norma B. Romero, Claude Desnuelle

المساهمون: Laboratoire de biochimie et génétique moléculaire, CHU Grenoble, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Servicio di Neurologia, Clinica Las Condes, Fédération des Maladies Neuromusculaires, Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital Raymond Poincaré [AP-HP], Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Département de Biochimie et Génétique Moléculaire, Instituut Born-Bunge, Universiteit Antwerpen = University of Antwerpen [Antwerpen], Department of Pediatrics, University Children's Hospital, Service de génétique [Rouen], Department of Neurology, Academic Medical Centre, Clinical Genetics, VU University Medical Center [Amsterdam], Association Française contre les Myopathies, Agence Nationale de la Recherche, Programme Hospitalier de Recherche Clinique du Centre Hospitalier Universitaire de Grenoble, Fondation Daniel Ducoin., Roux-Buisson, Nathalie, Universiteit Antwerpen, Faculteit Medische Wetenschappen/UMCG, ANS - Amsterdam Neuroscience, Neurology, Grenoble Institut des Neurosciences ( GIN ), Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble-Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Nice, AP-HP Hôpital Raymond Poincaré [Garches], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IFR14-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service d'Anatomie et Cytologie Pathologique [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), University Medical Center

المصدر: Human Mutation, 29, 5, pp. 670-8
Human Mutation, 29, 670-8
Human Mutation
Human Mutation, 2008, 29 (5), pp.670-8. ⟨10.1002/humu.20696⟩
Human Mutation, Wiley, 2008, 29 (5), pp.670-8. ⟨10.1002/humu.20696⟩
Human Mutation, 29(5), 670-678. Wiley
Human mutation, 29(5), 670-678. Wiley-Liss Inc.
Human mutation
Human Mutation, Wiley, 2008, 29 (5), pp.670-8. 〈10.1002/humu.20696〉

مصطلحات موضوعية: Male, CA2+ RELEASE CHANNEL, PHENOTYPE, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease_cause, MESH: Ryanodine Receptor Calcium Release Channel, Exon, MULTI-MINICORE DISEASE, 0302 clinical medicine, DOMAIN, RYR1, Missense mutation, MESH : Female, MESH: Gene Silencing, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, MESH : Muscular Diseases, Genetics (clinical), MESH : Ryanodine Receptor Calcium Release Channel, Genetics, 0303 health sciences, Mutation, Malignant hyperthermia, MUSCLE, DYSTROPHY, musculoskeletal system, Null allele, Pedigree, 3. Good health, MALIGNANT HYPERTHERMIA, recessive core myopathies, Mitochondrial medicine [IGMD 8], Female, MESH : Mutation, MESSENGER-RNA, tissues, MESH: Mutation, MESH: Pedigree, MESH : Male, Genes, Recessive, [ SDV.BBM.BM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, REGION, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Muscular Diseases, MESH : Gene Silencing, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene Silencing, Allele, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene, MESH: Genes, Recessive, CCD, 030304 developmental biology, MESH: Humans, MESH : Humans, MESH: Muscular Diseases, MESH : Genes, Recessive, Ryanodine Receptor Calcium Release Channel, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Glycostation disorders [IGMD 4], medicine.disease, GENE, Molecular biology, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic defects of metabolism [UMCN 5.1], MESH : Pedigree, amorphic mutations, Cellular energy metabolism [UMCN 5.3], MESH: Female, 030217 neurology & neurosurgery, MmD

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f61f0299bb5fa47b5ad69a67a2e0a2aTest
https://hdl.handle.net/2066/71222Test

المؤلفون: Sara Shanske, Eric A. Schon, Eduardo Bonilla, Claude Desnuelle, Leonardo Salviati, Yutaka Nishigaki, Michio Hirano, Winsome F. Walker, Mercy M. Davidson, Eva Trevisson, Darryl C. De Vivo, Salvatore DiMauro, Severine Delplace, Evelyn Hernandez-Rosa, Sabrina Sacconi

مصطلحات موضوعية: Male, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Mutant, Respiratory chain, Biology, Mitochondrion, DNA, Mitochondrial, Genetics, Humans, Point Mutation, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Dominance (genetics), Base Sequence, Point mutation, General Medicine, Articles, Fibroblasts, RNA, Transfer, Trp, Molecular biology, Heteroplasmy, Mitochondria, Protein Biosynthesis, Transfer RNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7a701e947cb6de530f79589e42f9634Test
http://hdl.handle.net/11577/2471214Test