檢索結果 - Pascale Richard

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  1. 1
    ColVI myopathies: where do we stand, where do we go?

    ColVI myopathies: where do we stand, where do we go? 由 Valérie Allamand, Laura Briñas, Pascale Richard, Tanya Stojkovic, Susana Quijano‐Roy, Gisèle Bonne

    出版 2011
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  2. 2
    Correlation between <i>PABPN1</i> genotype and disease severity in oculopharyngeal muscular dystrophy

    Correlation between <i>PABPN1</i> genotype and disease severity in oculopharyngeal muscular dystrophy 由 Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelièvre, Sophie Périé, Jean Pouget, B. Eymard

    出版 2016
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  3. 3
    Genetic advances in sarcomeric cardiomyopathies: state of the art

    Genetic advances in sarcomeric cardiomyopathies: state of the art 由 Carolyn Y. Ho, Philippe Charron, Pascale Richard, Francesca Girolami, Karin Y. van Spaendonck‐Zwarts, Yigal M. Pinto

    出版 2015
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  4. 4
    Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk

    Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk 由 Christophe Chouabe, Nathalie Neyroud, Pascale Richard, Isabelle Denjoy, Bernard Hainque, Georges Romey, Milou-Daniel Drici, Pascale Guicheney, Jacques Barhanin

    出版 2000
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  5. 5
    Zika virus in asymptomatic blood donors in Martinique

    Zika virus in asymptomatic blood donors in Martinique 由 Pierre Gallian, André Cabié, Pascale Richard, Laure Paturel, Rémi N. Charrel, Boris Pastorino, Isabelle Leparc-Goffart, Pierre Tiberghien, Xavier de Lamballerie

    出版 2016
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  6. 6
    Epidemiology of Chikungunya Virus Outbreaks in Guadeloupe and Martinique, 2014: An Observational Study in Volunteer Blood Donors

    Epidemiology of Chikungunya Virus Outbreaks in Guadeloupe and Martinique, 2014: An Observational Study in Volunteer Blood Donors 由 Pierre Gallian, Isabelle Leparc-Goffart, Pascale Richard, Françoise Maire, Olivier Flusin, Rachid Djoudi, Jacques Chiaroni, Rémi N. Charrel, Pierre Tiberghien, Xavier de Lamballerie

    出版 2017
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  7. 7
    A mutation in the<i>SEPN1</i>selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to<i>SEPN1</i>-related myopathy

    A mutation in the<i>SEPN1</i>selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to<i>SEPN1</i>-related myopathy 由 Baijayanta Maiti, Sandrine Arbogast, Val��rie Allamand, Mark W. Moyle, Christine B. Anderson, Pascale Richard, Pascale Guicheney, Ana Ferreiro, Kevin M. Flanigan, Michael Howard

    出版 2008
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  8. 8
    Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

    Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations 由 I. Wargon, Pascale Richard, Thierry Küntzer, Damien Sternberg, Shahriar Nafissi, Karen Gaudon, Adeline Lebail, Stéphanie Bauché, Daniel Hantaı̈, Emmanuel Fournier, B. Eymard, Tanya Stojkovic

    出版 2011
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  9. 9
    High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

    High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study 由 Karim Wahbi, Anthony Béhin, Philippe Charron, Murielle Dunand, Pascale Richard, Christophe Meune, Patrick Vicart, Pascal Laforêt, Tanya Stojkovic, Henri Marc Bécane, Thierry Küntzer, Denis Duboc

    出版 2011
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  10. 10
    Prospective detection of chikungunya virus in blood donors, Caribbean 2014

    Prospective detection of chikungunya virus in blood donors, Caribbean 2014 由 Pierre Gallian, Xavier de Lamballerie, Nicolas Salez, Géraldine Piorkowski, Pascale Richard, Laure Paturel, Rachid Djoudi, Isabelle Leparc-Goffart, Pierre Tiberghien, Jacques Chiaroni, Rémi N. Charrel

    出版 2014
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  11. 11
    New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

    New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisi... 由 Nacim Louhichi, Chahnez Triki, Susana Quijano‐Roy, Pascale Richard, S. Makri, Mériem Méziou, B. Estournet, Slah Mrad, Norma B. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

    出版 2004
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  12. 12
    A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy

    A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy 由 Valérie Allamand, Pascale Richard, Alain Lescure, C. Ledeuil, Delphine Desjardin, Nathalie Petit, Corine Gartioux, Ana Ferreiro, Alain Krol, N. Pellegrini, Jon Andoni Urtizberea, Pascale Guicheney

    出版 2006
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  13. 13
    Genomic Organization of the <i>KCNQ1</i> K <sup>+</sup> Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome

    Genomic Organization of the <i>KCNQ1</i> K <sup>+</sup> Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome 由 Nathalie Neyroud, Pascale Richard, Nicolas Vignier, Claire Donger, Isabelle Denjoy, L. Demay, M. А. Shkolnikova, Ricardo Pesce, Philippe Chevalier, Bernard Hainque, P Coumel, Ketty Schwartz, Pascale Guicheney

    出版 1999
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  14. 14
    C-terminal <i>HERG</i> Mutations

    C-terminal <i>HERG</i> Mutations 由 Myriam Berthet, Isabelle Denjoy, Claire Donger, L. Demay, Hicham Hammoude, Didier Klug, Eric Schulze‐Bahr, Pascale Richard, Harald Funke, Ketty Schwartz, P Coumel, Bernard Hainque, Pascale Guicheney

    出版 1999
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  15. 15
    Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

    Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins 由 Francesco Muntoni, Gisèle Bonne, Lev G. Goldfarb, Eugenio Mercuri, Richard J. Piercy, Margaret Burke, Rabah Ben Yaou, Pascale Richard, Dominique Récan, Aleksey Shatunov, Caroline A. Sewry, S. Brown

    出版 2006
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  16. 16
    Notched T Waves on Holter Recordings Enhance Detection of Patients With LQT2 ( <i>HERG</i> ) Mutations

    Notched T Waves on Holter Recordings Enhance Detection of Patients With LQT2 ( <i>HERG</i> ) Mutations 由 Jean‐Marc Lupoglazoff, Isabelle Denjoy, Myriam Berthet, Nathalie Neyroud, L. Demay, Pascale Richard, Bernard Hainque, Guy Vaksmann, Didier Klug, Antoine Leenhardt, Gaston F. Maillard, P Coumel, Pascale Guicheney

    出版 2001
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  17. 17
    Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

    Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene 由 Eugenio Mercuri, S. Brown, Petros Nihoyannopoulos, Joanna Poulton, Maria Kinali, Pascale Richard, Richard J. Piercy, Sonia Messina, Caroline A. Sewry, Margaret Burke, William J. McKenna, Gisèle Bonne, Francesco Muntoni

    出版 2005
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  18. 18
    Hypertrophic Cardiomyopathy

    Hypertrophic Cardiomyopathy 由 Pascale Richard, Philippe Charron, Lucie Carrier, C. Ledeuil, T. Cheav, Claire Pichereau, Abdelaziz Benaiche, Richard Isnard, Olivier Dubourg, M. Burban, Jean-Pierre Gueffet, A Millaire, Michel Desnos, Ketty Schwartz, Bernard Hainque, Michel Komajda

    出版 2003
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  19. 19
    Clinical Features and Prognostic Implications of Familial Hypertrophic Cardiomyopathy Related to the Cardiac Myosin-Binding Protein C Gene

    Clinical Features and Prognostic Implications of Familial Hypertrophic Cardiomyopathy Related to the Cardiac Myosin-Binding Protein C Gene 由 Philippe Charron, Olivier Dubourg, Michel Desnos, Mohammed Bennaceur, Lucie Carrier, Anne‐Claude Camproux, Richard Isnard, Albert Hagège, J.-M. Langlard, Gisèle Bonne, Pascale Richard, Bernard Hainque, Jean-Brieuc Bouhour, Ketty Schwartz, Michel Komajda

    出版 1998
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  20. 20
    Significance of deep T-wave inversions in asymptomatic athletes with normal cardiovascular examinations: practical solutions for managing the diagnostic conundrum

    Significance of deep T-wave inversions in asymptomatic athletes with normal cardiovascular examinations: practical solutions for managing the diagnostic conundrum 由 Mathew G Wilson, Sanjay Sharma, François Carré, Philippe Charron, Pascale Richard, Rory O’Hanlon, Sanjay Prasad, Hein Heidbüchel, Josép Brugada, O. Ibn Salah, Mary N. Sheppard, Keith George, Gregory P. Whyte, Bruce Hamilton, Hakim Chalabi

    出版 2012
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