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: 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: Mourad, Naïmi, Sylvie, Bannwarth, Vincent, Procaccio, Jean, Pouget, Claude, Desnuelle, Jean-François, Pellissier, Agnes, Rötig, Arnold, Munnich, Patrick, Calvas, Christian, Richelme, Philippe, Jonveaux, Giovanni, Castelnovo, Mariella, Simon, Melvin, Simon, Michel, Clanet, Douglas, Wallace, Véronique, Paquis-Flucklinger

المصدر: European journal of human genetics : EJHG. 14(8)

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ataxia, Adolescent, Molecular Sequence Data, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, Ophthalmoparesis, Frameshift mutation, Mitochondrial Proteins, Genetics, medicine, Missense mutation, Humans, Genetic Testing, Gene, Genetics (clinical), Chromatography, High Pressure Liquid, Sequence Deletion, Mutation, Polymorphism, Genetic, Base Sequence, DNA Helicases, Adenine Nucleotide Translocator 1, Infant, Middle Aged, Molecular biology, Phenotype, DNA Polymerase gamma, Pedigree, Child, Preschool, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401b7ec504e5f187c3700ecff02fafeeTest
https://pubmed.ncbi.nlm.nih.gov/16639411Test

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