يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Claude Desnuelle"', وقت الاستعلام: 1.12s تنقيح النتائج
  1. 1
    First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica

    المؤلفون: Gabriel Torrealba-Acosta, María Consuelo Rodríguez-Roblero, Sixto Bogantes-Ledezma, Claude Desnuelle, Kenneth Carazo-Céspedes

    المصدر: Neuromuscular Disorders. 27:951-955

    مصطلحات موضوعية: Costa Rica, Male, 0301 basic medicine, Population, Late onset, Disease, Biology, Compound heterozygosity, Genetic analysis, 03 medical and health sciences, 0302 clinical medicine, Glycogen storage disease type II, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, Allele, education, Genetic Association Studies, Genetics (clinical), Genetics, education.field_of_study, Glycogen Storage Disease Type II, alpha-Glucosidases, Middle Aged, medicine.disease, 030104 developmental biology, Neurology, Respiratory failure, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c0b3a57692ae6a31eb707b31addb31eTest
    https://doi.org/10.1016/j.nmd.2017.06.010Test


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  2. 2
    Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

    المؤلفون: Françoise Bouhour, Sabrina Sacconi, Christine Tranchant, Jean Pouget, Nicolas Lévy, Elisabeth Ollagnon, Emmanuelle Salort-Campana, Shahram Attarian, Guilhem Solé, M. Arne-Bes, Thierry Kuntzer, Marc Bartoli, Karine Nguyen, Julien Niederhauser, Elisabeth Jouve, Rafaëlle Bernard, Estelle Charles, Claude Desnuelle, Frédérique Magdinier, Aleksandra Nadaj-Pakleza, Christophe Vial, Xavier Ferrer, Andoni Echaniz-Laguna

    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 référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), 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 de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, CHU Bordeaux [Bordeaux], Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre investigation clinique - Unité de pharmacologie clinique et d'évaluations thérapeutiques (CIC-UPCET), Assistance Publique - Hôpitaux de Marseille (APHM), Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital neurologique, Institut de Biologie Valrose (IBV), 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), Hôpital de Hautepierre [Strasbourg], Pôle Tête-Cou-CETD, Les Hôpitaux Universitaires de Strasbourg (HUS), Neurologie et Explorations Fonctionnelles du Système Nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Bartoli, Marc, Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse]

    المصدر: Orphanet Journal of Rare Diseases
    Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩
    Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩
    Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 2

    مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Cross-sectional study, Genetic counseling, Penetrance, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Epigenesis, Genetic, Young Adult, Facioscapulohumeral muscular dystrophy, Internal medicine, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Genetics(clinical), Pharmacology (medical), Medical history, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Allele, Genetics (clinical), Alleles, Genetic testing, Aged, Medicine(all), Genetics, D4Z4, medicine.diagnostic_test, Research, Microfilament Proteins, Nuclear Proteins, RNA-Binding Proteins, General Medicine, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, FSHD1, Cross-Sectional Studies, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, Age of onset

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ca120278fa6c0b335375e5637bcfcaTest
    https://hal.science/hal-01610016Test


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  3. 3
    The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

    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


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  4. 4
    Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

    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


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