Výsledky vyhledávání - Nicole Monnier

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  1. 1
    An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

    An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor Autor Nicole Monnier

    Vydáno 2000
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  2. 2
    Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

    Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor Autor Nicole Monnier

    Vydáno 2001
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  3. 3
    Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle

    Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Sk... Autor Nicole Monnier, Vincent Procaccio, P Stieglitz, Joël. Lunardi

    Vydáno 1997
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  4. 4
    A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

    A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia Autor Nicole Monnier, Ana Ferreiro, Isabelle Marty, Annick Labarre‐Vila, Paulette Mezin, Joël Lunardi

    Vydáno 2003
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  5. 5
    Presence of Two Different Genetic Traits in Malignant Hyperthermia Families

    Presence of Two Different Genetic Traits in Malignant Hyperthermia Families Autor Nicole Monnier, R Krivosic-Horber, Jean‐François Payen, G. Kozak‐Ribbens, Y. Nivoche, P Adnet, H. Reyford, Joël Lunardi

    Vydáno 2002
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  6. 6
    Human C3 Deficiency Associated with Impairments in Dendritic Cell Differentiation, Memory B Cells, and Regulatory T Cells

    Human C3 Deficiency Associated with Impairments in Dendritic Cell Differentiation, Memory B Cells, and Regulatory T Cells Autor Arije Ghannam, Martine Pernollet, Jean‐Luc Fauquert, Nicole Monnier, D. Ponard, Marie‐Bernadette Villiers, Josette Péguet‐Navarro, A. Tridon, Joël Lunardi, Denis Gerlier, Christian Drouet

    Vydáno 2008
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  7. 7
    Severe congenital <i>RYR1</i> -associated myopathy

    Severe congenital <i>RYR1</i> -associated myopathy Autor Diana Bharucha‐Goebel, Mariarita Santi, Līvija Medne, Kristin Zukosky, Jahannaz Dastgir, Perry B. Shieh, Thomas Winder, Gihan Tennekoon, Richard S. Finkel, James J. Dowling, Nicole Monnier, Carsten G. Bönnemann

    Vydáno 2013
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  8. 8
    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes

    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes Autor Haifa Hichri, John Rendu, Nicole Monnier, Charles Coutton, Olivier Dorseuil, Rosa Vargas Poussou, Geneviève Baujat, Anne Blanchard, François Nobili, Bruno Ranchin, Michel Remesy, Rémi Salomon, Véronique Satre, Joël Lunardi

    Vydáno 2010
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  9. 9
    Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

    Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization Autor Jorge A. Bevilacqua, Nicole Monnier, Marc Bitoun, B. Eymard, Ana Ferreiro, Soledad Monges, F. Lubieniecki, Analía Taratuto, A. Laquérrière, Kristl G. Claeys, Isabelle Marty, Michel Fardeau, Pascale Guicheney, Joël Lunardi, Norma B. Romero

    Vydáno 2010
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  10. 10
    Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>)

    Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>) Autor Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, Hanns Lochmà ⁄ ller, Claudio Graziano, Stella Mitrani‐Rosenbaum, Darren Twomey, John C. Sparrow, Alan H. Beggs, Kristen L. Nowak

    Vydáno 2009
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  11. 11
    A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees

    A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees Autor Rachel L. Robinson, Nicole Monnier, Werner Wolz, Martin Jung, André Reis, Gudrun Nuernberg, Julie Curran, Koenraad G. Monsieurs, P Stieglitz, Luc Heytens, Ruth Fricker, Christine Van Broeckhoven, Thomas Deufel, Philip M. Hopkins, Joël Lunardi, Clemens R. Mueller

    Vydáno 1997
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  12. 12
    An Integrated Diagnosis Strategy for Congenital Myopathies

    An Integrated Diagnosis Strategy for Congenital Myopathies Autor Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C. Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B. Romero, Jocelyn Laporte

    Vydáno 2013
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  13. 13
    Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

    Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility Autor Nicole Monnier, G. Kozak‐Ribbens, R Krivosic-Horber, Y. Nivoche, Qi Dong, Natasha Kraev, Julian Loke, Parveen Sharma, Vincenzo Tegazzin, Dominique Figarella-Branger, Norma B. Romero, Paulette Mezin, David Bendahan, Jean‐François Payen, T. Dépret, David H. MacLennan, Joël. Lunardi

    Vydáno 2005
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  14. 14
    Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test

    Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test Autor Nathalie Roux-Buisson, Nicole Monnier, Emmanuel Sagui, Amandine Abriat, C. Brosset, David Bendahan, G. Kozak‐Ribbens, Sébastien Gazzola, Jean-Louis Quésada, Catherine Foutrier-Morello, John Rendu, D. Figarella-Branger, P Cozonne, Michel L. Aubert, L. Bourdon, Joël Lunardi, Julien Fauré

    Vydáno 2016
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  15. 15
    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion Autor Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, Margaret M. Perry, Robert L. Smith, Andrew J. Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D. King, Michael A. Farrell, Isabelle Marty, Joël Lunardi, Nicole Monnier, Kathryn N. North

    Vydáno 2010
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  16. 16
    Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor

    Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor Autor Adriana S. Moreno, Solange Oliveira Rodrigues Valle, Soloni Afra Pires Levy, Alfeu Tavares França, Faradiba Sarquis Serpa, Helen Andrade Arcuri, Mário Sérgio Palma, Wagner Narciso de Campos, Marina M. Dias, D. Ponard, Nicole Monnier, Joël Lunardi, Konrad Bork, Wilson A. Silva, L. Karla Arruda

    Vydáno 2015
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  17. 17
    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis Autor Klaus Dieterich, Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila‐Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma B. Romero, Damien Sternberg, Isabelle Marty, B. Estournet, Pierre‐Simon Jouk, Judith Melki, Joël Lunardi

    Vydáno 2012
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  18. 18
    Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?

    Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? Autor Rachel L. Robinson, Martin Anetseder, Virginia Brancadoro, C van Broekhoven, Antonella Carsana, K. Censier, Giuliana Fortunato, Thierry Girard, Luc Heytens, Philip M. Hopkins, Karin Jurkat‐Rott, W Klinger, G. Kozak‐Ribbens, R Krivosic, Nicole Monnier, Y. Nivoche, D Olthoff, Henrik Rueffert, Vincenzo Sorrentino, Vincenzo Tegazzin, C R Mueller

    Vydáno 2003
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  19. 19
    Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

    Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human Autor Nathalie Roux-Buisson, Marine Cacheux, Anne Fourest‐Lieuvin, Jérémy Fauconnier, Julie Brocard, Isabelle Denjoy, Philippe Durand, Pascale Guicheney, Florence Kyndt, Antoine Leenhardt, Hervé Le Marec, V. Lucet, Philippe Mabo, Vincent Probst, Nicole Monnier, Pierre F. Ray, Elodie Santoni, Pauline Trémeaux, Alain Lacampagne, Julien Fauré, Joël Lunardi, Isabelle Marty

    Vydáno 2012
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  20. 20
    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase Autor Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres

    Vydáno 2009
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