檢索結果 - Pascale Guicheney

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  1. 1
    Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)

    Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin) 由 Valérie Allamand, Pascale Guicheney

    出版 2002
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  2. 2
    Catecholaminergic Polymorphic Ventricular Tachycardia

    Catecholaminergic Polymorphic Ventricular Tachycardia 由 Antoine Leenhardt, Isabelle Denjoy, Pascale Guicheney

    出版 2012
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  3. 3
    Dynamin 2 and human diseases

    Dynamin 2 and human diseases 由 Anne‐Cécile Durieux, Bernard Prudhon, Pascale Guicheney, Marc Bitoun

    出版 2010
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  4. 4
    Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

    Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias 由 Christophe Chouabe, Nathalie Neyroud, Pascale Guicheney, Michel Lazdunski, Georges Romey, Jacques Barhanin

    出版 1997
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  5. 5
    Novel Mechanism for Brugada Syndrome

    Novel Mechanism for Brugada Syndrome 由 Ghayath Baroudi, Valérie Pouliot, I. Denjoy, Pascale Guicheney, Alvin Shrier, Mohamed Chahine

    出版 2001
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  6. 6
    Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

    Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population 由 Laëtitia Gouas, Viviane Nicaud, Myriam Berthet, Anne Forhan, Laurence Tiret, Beverley Balkau, Pascale Guicheney

    出版 2005
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  7. 7
    Homozygous <i>SCN5A</i> Mutation in Long-QT Syndrome With Functional Two-to-One Atrioventricular Block

    Homozygous <i>SCN5A</i> Mutation in Long-QT Syndrome With Functional Two-to-One Atrioventricular Block 由 Jean‐Marc Lupoglazoff, T. Cheav, Ghayath Baroudi, Myriam Berthet, Isabelle Denjoy, B Cauchemez, Fabrice Extramiana, Mohamed Chahine, Pascale Guicheney

    出版 2001
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  8. 8
    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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  9. 9
    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy 由 Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloğlu, Bernard Échenne, Luciano Merlini, Pascale Guicheney

    出版 2002
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  10. 10
    Long QT syndrome in neonates

    Long QT syndrome in neonates 由 Jean‐Marc Lupoglazoff, Isabelle Denjoy, E Villain, Véronique Fressart, Françoise Simon, A Bozio, Myriam Berthet, N. Benammar, Bernard Hainque, Pascale Guicheney

    出版 2004
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  11. 11
    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 由 Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloğlu, Francesco Muntoni, Sylvana Pavek, Caroline A. Sewry, M. Mayer, Michel Fardeau, F.M.S. Tomé, Pascale Guicheney

    出版 1998
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  12. 12
    Brugada syndrome and fever: Genetic and molecular characterization of patients carrying mutations

    Brugada syndrome and fever: Genetic and molecular characterization of patients carrying mutations 由 Dagmar I. Keller, Jean‐Sébastien Rougier, Jan Kučera, N. Benammar, Véronique Fressart, Pascale Guicheney, A Mádle, Menachem Fromer, Jürg Schläpfer, Hugues Abriel

    出版 2005
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  13. 13
    A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice

    A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice 由 Anne‐Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, B. Fraysse, Laura Briñas, Bernard Prudhon, Josiane Castells, Damien Freyssenet, Gisèle Bonne, Pascale Guicheney, Marc Bitoun

    出版 2012
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  14. 14
    Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

    Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic... 由 Claire Donger, Éric Krejci, Adolf Pou Serradell, B. Eymard, Suzanne Bon, Sophie Nicole, Danielle Château, Françoise Gary, Michel Fardeau, Jean Massoulié, Pascale Guicheney

    出版 1998
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  15. 15
    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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  16. 16
    Hydroquinidine therapy in Brugada syndrome

    Hydroquinidine therapy in Brugada syndrome 由 Jean‐Sylvain Hermida, Isabelle Denjoy, J. Clerc, Fabrice Extramiana, G Jarry, Paul Milliez, Pascale Guicheney, S Di Fusco, Jean-Luc Rey, B Cauchemez, Antoine Leenhardt

    出版 2004
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  17. 17
    Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Nav1.5 α-subunits

    Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Nav1.5 α-subunits 由 Jérôme Clatot, Azza Ziyadeh-Isleem, Svetlana Maugenre, Isabelle Denjoy, Haiyan Liu, Gilles Dilanian, Stéphane N. Hatem, Isabelle Deschênes, Alain Coulombe, Pascale Guicheney, Nathalie Neyroud

    出版 2012
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  18. 18
    A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation

    A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation 由 Azza Ziyadeh-Isleem, Jérôme Clatot, Sabine Duchatelet, Estelle Gandjbakhch, Isabelle Denjoy, Françoise Hidden‐Lucet, Stéphane N. Hatem, Isabelle Deschênes, Alain Coulombe, Nathalie Neyroud, Pascale Guicheney

    出版 2014
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  19. 19
    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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  20. 20
    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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