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1
المؤلفون: Alberto Casarin, Sabrina Sacconi, Ana Maria Cobo, Leonardo Salviati, Rafaëlle Bernard, Claude Desnuelle, Christophe Pécheux, Jean Christophe Antoine, Andoni Urtizberea, Léonard Féasson
المصدر: Neuromuscular Disorders. 22:66-72
مصطلحات موضوعية: Male, DNA Mutational Analysis, Mutant, Mutation, Missense, Cardiomyopathy, Biology, Cataract, Pathogenesis, Muscular Diseases, Crystallin, Genotype, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Genetic Association Studies, Genetics (clinical), Aged, Genetics, alpha-Crystallin B Chain, Middle Aged, medicine.disease, Phenotype, Neurology, Chaperone (protein), Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), Age of onset, Cardiomyopathies, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974844631d0c97d58a9693d94d51bee0Test
https://doi.org/10.1016/j.nmd.2011.07.004Test -
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المؤلفون: Gilles Carnac, Catherine Bisbal, Claude Desnuelle, Sandrine Bouillot, Dalila Laoudj-Chenivesse, Gérald Hugon, Anne Fernandez, Yegor S. Vassetzky
المصدر: Journal of Molecular Medicine. 83:216-224
مصطلحات موضوعية: Adult, Male, Proteomics, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Time Factors, Adolescent, Biopsy, Duchenne muscular dystrophy, Peptide Mapping, Adenine Nucleotide Translocator 1, DUX4, Adenine nucleotide, Internal medicine, Drug Discovery, medicine, Humans, Facioscapulohumeral muscular dystrophy, Electrophoresis, Gel, Two-Dimensional, Muscular dystrophy, Gene, Heat-Shock Proteins, Genetics (clinical), Aged, Genetics, biology, Adenine nucleotide translocator, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Oxidative Stress, Endocrinology, biology.protein, Molecular Medicine, Female, Lipid Peroxidation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b537624149ba3292284a33831af69f8Test
https://doi.org/10.1007/s00109-004-0583-7Test -
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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), 41-46مصطلحات 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 -
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المؤلفون: Emmanuelle Plassart, Jocelyne Reboul, Claire-Sophie Rime, Dominique Recan, Philippe Millasseau, Bruno Eymard, Jean Pelletier, Charles Thomas, Françoise Chapon, Claude Desnuelle, Christian Confavreux, Bernadette Bady, Jean-Jacques Martin, Gilbert Lenoir, Georges Serratrice, Michel Fardeau, Bertrand Fontaine
المصدر: European journal of human genetics : EJHG. 2(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genotype, Myotonia Congenita, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, DNA, Single-Stranded, Muscle disorder, Polymerase Chain Reaction, Sodium Channels, Paralyses, Familial Periodic, Gene Frequency, Internal medicine, Genetics, medicine, Humans, Point Mutation, Hyperkalemic periodic paralysis, Myotonia permanens, Child, Genetics (clinical), DNA Primers, CLCN1, Chi-Square Distribution, Polymorphism, Genetic, biology, Base Sequence, Infant, Periodic paralysis, medicine.disease, Myotonia, Pedigree, Endocrinology, Phenotype, Paramyotonia congenita, Child, Preschool, Mutation (genetic algorithm), biology.protein, Hyperkalemia, Nucleic Acid Conformation, Female, France
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6269d684ba92584260b1cde2a2e009dTest
https://pubmed.ncbi.nlm.nih.gov/8044656Test -
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المصدر: Neuromuscular Disorders. 17:830
مصطلحات موضوعية: biology, Chemistry, Cytochrome b, Cytochrome c, Cytochrome P450 reductase, Neurology, Biochemistry, Coenzyme Q – cytochrome c reductase, Pediatrics, Perinatology and Child Health, biology.protein, Cytochrome c oxidase, Neurology (clinical), Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0acd0052f17753ca6821e052041563f5Test
https://doi.org/10.1016/j.nmd.2007.06.234Test
