檢索結果 - Valérie Allamand

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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
    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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  3. 3
    Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A

    Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A 由 Virginie Carmignac, Martina Svensson, Zandra Körner, Linda Elowsson, Cíntia Yuri Matsumura, Kinga I. Gawlik, Valérie Allamand, Madeleine Durbeej

    出版 2011
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  4. 4
    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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  5. 5
    Disruption of the β-Sarcoglycan Gene Reveals Pathogenetic Complexity of Limb-Girdle Muscular Dystrophy Type 2E

    Disruption of the β-Sarcoglycan Gene Reveals Pathogenetic Complexity of Limb-Girdle Muscular Dystrophy Type 2E 由 Madeleine Durbeej, Ronald D. Cohn, Ronald F. Hrstka, Steven A. Moore, Valérie Allamand, Beverly L. Davidson, Roger A. Williamson, Kevin P. Campbell

    出版 2000
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  6. 6
    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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  7. 7
    Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy

    Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy 由 Mathieu Rederstorff, Perrine Castets, Sandrine Arbogast, Jeanne Lainé, Stéphane Vassilopoulos, Maud Beuvin, O. Dubourg, Alban Vignaud, Arnaud Ferry, Alain Krol, Valérie Allamand, Pascale Guicheney, Ana Ferreiro, Alain Lescure

    出版 2011
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  8. 8
    Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin 2-Chain

    Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin 2-Chain 由 Valérie Allamand, Yoshihide Sunada, Mustafa A. Salih, Volker Straub, O. Ozo, Muath Al-Turaiki, Muhammad Akbar, T. Kolo, Holly Colognato, X Zhang, Lydia Sorokin, Peter D. Yurchenco, Karl Tryggvason, Kevin P. Campbell

    出版 1997
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  9. 9
    Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

    Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy 由 Fredérique Rau, Jeanne Lainé, Laetitita Ramanoudjame, Arnaud Ferry, Ludovic Arandel, Olivier Delalande, Arnaud Jollet, Florent Dingli, Kuang‐Yung Lee, Cécile Peccate, Stéphanie Lorain, Edor Kabashi, Takis Athanasopoulos, Taeyoung Koo, Damarys Loew, Maurice S. Swanson, Élisabeth Le Rumeur, George Dickson, Valérie Allamand, Joëlle Marie, Denis Furling

    出版 2015
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  10. 10
    Natural history of pulmonary function in collagen VI-related myopathies

    Natural history of pulmonary function in collagen VI-related myopathies 由 A. Reghan Foley, Susana Quijano‐Roy, James J. Collins, Volker Straub, Michelle McCallum, Nicolas Deconinck, Eugenio Mercuri, Marika Pane, Adele D’Amico, Enrico Bertini, Kathryn N. North, Monique M. Ryan, Pascale Richard, Valérie Allamand, Debbie Hicks, Shireen R. Lamandé, Ying Hu, Francesca Gualandi, Sungyoung Auh, Francesco Muntoni, Carsten G. Bönnemann

    出版 2013
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  11. 11
    Early onset collagen VI myopathies: Genetic and clinical correlations

    Early onset collagen VI myopathies: Genetic and clinical correlations 由 Laura Briñas, Pascale Richard, Susana Quijano‐Roy, Corine Gartioux, C. Ledeuil, Emmanuelle Lacène, S. Makri, Ana Ferreiro, Svetlana Maugenre, Haluk Topaloğlu, Göknur Haliloğlu, I. Pénisson-Besnier, Pierre‐Yves Jeannet, Luciano Merlini, Carmen Navarro, Annick Toutain, Denys Chaigne, Isabelle Desguerre, Christine de Die‐Smulders, Murielle Dunand, Bernard Échenne, B. Eymard, Thierry Küntzer, Kim Maincent, M. Mayer, Ghislaine Plessis, François Rivier, Filip Roelens, Tanya Stojkovic, Ana Lía Taratuto, Fabiana Lubieniecki, Soledad Monges, Christine Tranchant, Louis Viollet, Norma B. Romero, B. Estournet, Pascale Guicheney, Valérie Allamand

    出版 2010
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  12. 12
    A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

    A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 由 Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek‐Yagel, Anna Sárközy, Russell J. Butterfield, Cristina Jou, C. Jimenez‐Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, Steve D. Wilton, Shireen R. Lamandé, Daniel G. MacArthur, Raimund Wagener, Francesco Muntoni, Carsten G. Bönnemann

    出版 2019
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