يعرض 1 - 7 نتائج من 7 نتيجة بحث عن '"Claude Desnuelle"', وقت الاستعلام: 0.72s تنقيح النتائج
  1. 1
    A novel CRYAB mutation resulting in multisystemic disease

    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


    أضف إلى المفضلة
  2. 2
    Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions

    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


    أضف إلى المفضلة
  3. 3
    Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

    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


    أضف إلى المفضلة
  4. 4
    Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

    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


    أضف إلى المفضلة
  5. 5
    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


    أضف إلى المفضلة
  6. 6
    Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

    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


    أضف إلى المفضلة
  7. 7
    Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations

    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


    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث