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1كتاب
المساهمون: Cooper, David N. (David Neil), 1957-, Upadhyaya, M. (Meena)
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المؤلفون: Stéphane Roche, Sadia Beloribi-Djefaflia, Frédérique Magdinier, Thierry Kuntzer, Andoni Echaniz-Laguna, Françoise Bouhour, Karine Nguyen, Elisabeth Ollagnon, Emmanuelle Salort-Campana, Guilhem Solé, Rafaëlle Bernard, Pascal Cintas, Nicolas Lévy, Sabrina Sacconi, Shahram Attarian, Farzad Fatehi
المساهمون: Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Tehran University of Medical Sciences (TUMS), 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), Centre Sclérose Latérale Amyotrophique et maladies, Unité de neurophysiologie clinique [CHU Toulouse], CHU Toulouse [Toulouse], Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital neurologique, Hospices Civils de Lyon (HCL), Hôpital de la Croix-Rousse [CHU - HCL], 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)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Sclérose Latérale amyotrophique [CHU Toulouse], Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Roche, Stephane
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩
International journal of molecular sciences, vol. 21, no. 6, pp. 2221
Volume 21
Issue 6
International Journal of Molecular Sciences, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩
International Journal of Molecular Sciences, Vol 21, Iss 6, p 2221 (2020)مصطلحات موضوعية: Male, 0301 basic medicine, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, genotype, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Penetrance, Disease, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Severity of Illness Index, Genetic analysis, Gastroenterology, lcsh:Chemistry, Correlation, 0302 clinical medicine, Genotype, Medicine, Facioscapulohumeral muscular dystrophy, Attention, 10. No inequality, lcsh:QH301-705.5, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Spectroscopy, General Medicine, Methylation, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Computer Science Applications, Adult, Alleles, Cross-Sectional Studies, DNA Methylation, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Muscular Dystrophy, Facioscapulohumeral/diagnosis, Muscular Dystrophy, Facioscapulohumeral/genetics, Phenotype, Repetitive Sequences, Nucleic Acid, FSHD, association, correlation, methylation, phenotype, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Physical and Theoretical Chemistry, Allele, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Molecular Biology, business.industry, Organic Chemistry, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, [SDV.BIO] Life Sciences [q-bio]/Biotechnology, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Alexandra Tassin, Isabelle Mahieu, Alexandra Belayew, Dalila Laoudj-Chenivesse, Axelle Leroy, Véronique Mainfroid, Gillian Butler-Browne, Denise A. Figlewicz, Eugénie Ansseau, India Leclercq, Marietta Barro, Céline Vanderplanck, Vincent Mouly, Frédérique Coppée, Aline Marcowycz, Sébastien Sauvage
المساهمون: Université de Mons-Hainaut, Muscle et pathologies, Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Eppendorf Array Technologies S.A. [Namur], University of Michigan [Ann Arbor], University of Michigan System, 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), MORNET, Dominique
المصدر: PLoS ONE
PLoS ONE, 2009, 4 (10), pp.e7482. ⟨10.1371/journal.pone.0007482⟩
PLoS ONE, Vol 4, Iss 10, p e7482 (2009)
PloS one, 4 (10مصطلحات موضوعية: Myoblast proliferation, Cellular differentiation, Biopsy, [SDV]Life Sciences [q-bio], lcsh:Medicine, Myoblasts, Homeodomain Proteins -- biosynthesis -- genetics, Mice, Gene expression, Facioscapulohumeral muscular dystrophy, Muscular Dystrophy, Facioscapulohumeral -- genetics -- pathology, Myogenic Regulatory Factor 5 -- biosynthesis -- genetics, lcsh:Science, Genetics and Genomics/Genetics of Disease, Multidisciplinary, Myogenesis, Muscles, Genetics and Genomics/Functional Genomics, Genetics and Genomics/Gene Expression, Sciences bio-médicales et agricoles, Muscular Dystrophy, Facioscapulohumeral, Up-Regulation, Muscles -- pathology, [SDV] Life Sciences [q-bio], Genetics and Genomics/Gene Function, MYF5, Genetics and Genomics/Gene Discovery, Myogenic Regulatory Factor 5, Myoblasts -- cytology, Research Article, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Biology, DUX4, medicine, Animals, Humans, Cell Biology/Gene Expression, Cell Proliferation, Homeodomain Proteins, Models, Genetic, lcsh:R, medicine.disease, Molecular biology, Protein Structure, Tertiary, Gene Expression Regulation, Homeobox, lcsh:Q, HeLa Cells
وصف الملف: application/pdf; 1 full-text file(s): application/pdf
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4مورد إلكتروني
المصدر: PloS one, 4 (10
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Animals, Biopsy, Cell Proliferation, Gene Expression Regulation, HeLa Cells, Homeodomain Proteins -- biosynthesis -- genetics, Humans, Mice, Models, Genetic, Muscles -- pathology, Muscular Dystrophy, Facioscapulohumeral -- genetics -- pathology, Myoblasts -- cytology, Myogenic Regulatory Factor 5 -- biosynthesis -- genetics, Protein Structure, Tertiary, Up-Regulation, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/177167/4/doi_160797.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/177167 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
5مورد إلكتروني
المصدر: PloS one, 4 (10
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Animals, Biopsy, Cell Proliferation, Gene Expression Regulation, HeLa Cells, Homeodomain Proteins -- biosynthesis -- genetics, Humans, Mice, Models, Genetic, Muscles -- pathology, Muscular Dystrophy, Facioscapulohumeral -- genetics -- pathology, Myoblasts -- cytology, Myogenic Regulatory Factor 5 -- biosynthesis -- genetics, Protein Structure, Tertiary, Up-Regulation, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/177167/4/doi_160797.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/177167 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
6مورد إلكتروني
المصدر: Neuromuscular disorders, 17 (8
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Amino Acid Sequence, Apoptosis -- physiology, Cell Line, Tumor, Gene Expression -- physiology, Homeodomain Proteins -- genetics, Homeodomain Proteins -- metabolism, Humans, Membrane Proteins -- metabolism, Molecular Sequence Data, Muscle Cells -- cytology, Muscle Cells -- physiology, Muscular Dystrophy, Facioscapulohumeral -- genetics, Muscular Dystrophy, Facioscapulohumeral -- pathology, Muscular Dystrophy, Facioscapulohumeral -- physiopathology, Nuclear Envelope -- metabolism, Nuclear Proteins -- metabolism, Quadriceps Muscle -- cytology, RNA, Messenger -- metabolism, Rhabdomyosarcoma, Transcription, Genetic -- physiology, Apoptosis, DUX4, FSHD, Homeobox, Muscle, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/50807/1/Elsevier_25852.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/50807 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
7مورد إلكتروني
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 104 (46
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Base Sequence, DNA, Homeodomain Proteins -- genetics, Humans, Muscular Dystrophy, Facioscapulohumeral -- genetics, Paired Box Transcription Factors -- genetics, Promoter Regions, Genetic, Trans-Activators -- genetics, Up-Regulation, Atrophy, D4Z4, Expression profiling, Homeodomain, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/50815/4/PMC2084313.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/50815 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
8مورد إلكتروني
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 104 (46
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Base Sequence, DNA, Homeodomain Proteins -- genetics, Humans, Muscular Dystrophy, Facioscapulohumeral -- genetics, Paired Box Transcription Factors -- genetics, Promoter Regions, Genetic, Trans-Activators -- genetics, Up-Regulation, Atrophy, D4Z4, Expression profiling, Homeodomain, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/50815/4/PMC2084313.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/50815 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
9مورد إلكتروني
المصدر: Neuromuscular disorders, 17 (8
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Amino Acid Sequence, Apoptosis -- physiology, Cell Line, Tumor, Gene Expression -- physiology, Homeodomain Proteins -- genetics, Homeodomain Proteins -- metabolism, Humans, Membrane Proteins -- metabolism, Molecular Sequence Data, Muscle Cells -- cytology, Muscle Cells -- physiology, Muscular Dystrophy, Facioscapulohumeral -- genetics, Muscular Dystrophy, Facioscapulohumeral -- pathology, Muscular Dystrophy, Facioscapulohumeral -- physiopathology, Nuclear Envelope -- metabolism, Nuclear Proteins -- metabolism, Quadriceps Muscle -- cytology, RNA, Messenger -- metabolism, Rhabdomyosarcoma, Transcription, Genetic -- physiology, Apoptosis, DUX4, FSHD, Homeobox, Muscle, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/50807/1/Elsevier_25852.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/50807 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL