Resultats de la cerca - Jon Andoni Urtizberea

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  1. 1
    Natural history of <scp>LGMD</scp>2A for delineating outcome measures in clinical trials

    Natural history of <scp>LGMD</scp>2A for delineating outcome measures in clinical trials per Isabelle Richard, Jean‐Yves Hogrel, Daniel Stockholm, Christine Payan, Françoise Fougerousse, B. Eymard, Claude Mignard, Adolfo López de Munaín, Michel Fardeau, Jon Andoni Urtizberea

    Publicat 2016
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  2. 2
    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 per 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

    Publicat 2006
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  3. 3
    Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

    Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy per Danique Beijer, Tine Deconinck, Jan De Bleecker, Maria Teresa Dotti, Alessandro Malandrini, Jon Andoni Urtizberea, Miren Zulaica, Adolfo López de Munaín, Bob Asselbergh, Peter De Jonghe, Jonathan Baets

    Publicat 2019
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  4. 4
    Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31*

    Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31* per George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, Jon Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. M. Connor, James T. Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan, Eileen M. Shore

    Publicat 2000
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  5. 5
    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations

    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations per Marco Savarese, Johanna Palmio, Juan José Poza, Jan Weinberg, Montse Olivé, Ana María Cobo, Anna Vihola, Per Harald Jonson, J. Sarparanta, F. García-Bragado, Jon Andoni Urtizberea, Peter Hackman, Bjarne Udd

    Publicat 2019
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  6. 6
    Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome

    Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome per Morgane Stum, Claire-Sophie Davoine, Savine Vicart, Léna Guillot‐Noël, Haluk Topaloğlu, Francisco Javier Carod-Artal, Hülya Kayserili, Fayçal Hentati, Luciano Merlini, Jon Andoni Urtizberea, EL-Hadi Hammouda, Phuc Canh Quan, Bertrand Fontaine, Sophie Nicole

    Publicat 2006
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  7. 7
    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age per Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire De Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, P. Parent, Hubert Journel, Leïla Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Bonhomme‐Faivre, B. Eymard, Kim Maincent, Romain K. Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre

    Publicat 2013
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  8. 8
    Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

    Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy per Katarina Pelin, Pirta Hilpelä, Kati Donner, Caroline A. Sewry, P. Anthony Akkari, Steve D. Wilton, Duangrurdee Wattanasirichaigoon, Marie‐Louise Bang, Thomas Centner, F. Hanefeld, Sylvie Odent, Michel Fardeau, Jon Andoni Urtizberea, Francesco Muntoni, Victor Dubowitz, Alan H. Beggs, Nigel G. Laing, Siegfried Labeit, Albert de la Chapelle, Carina Wallgren‐Pettersson

    Publicat 1999
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  9. 9
    Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients

    Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients per Martin Krahn, Christophe Béroud, Véronique Labelle, Karine Nguyen, Rafaëlle Bernard, Guillaume Bassez, Dominique Figarella‐Branger, Carla Fernandez, J. Bouvenot, Isabelle Richard, Elisabeth Ollagnon‐Roman, Jorge A. Bevilacqua, Eric Salvo, Shahram Attarian, Françoise Chapon, Jean‐François Pellissier, Jean Pouget, El Hadi Hammouda, Pascal Laforêt, Jon Andoni Urtizberea, B. Eymard, France Leturcq, Nicolas Lévy

    Publicat 2008
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  10. 10
    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility per Irina Zaharieva, Anna Sárközy, Pinki Munot, Adnan Manzur, Gina O’Grady, John Rendu, E. Malfatti, Helge Amthor, Laurent Servais, Jon Andoni Urtizberea, Osório Lopes Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A. Reghan Foley, Chris Holmes, Glyn D. Williams, Muriel Holder, Sabrina W. Yum, Līvija Medne, Susana Quijano‐Roy, Norma B. Romero, Julien Fauré, Lucy Feng, Lailá Bastaki, Mark R. Davis, Rahul Phadke, Caroline A. Sewry, Carsten G. Bönnemann, Heinz Jungbluth, Christoph Bachmann, Susan Treves, Francesco Muntoni

    Publicat 2018
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  11. 11
    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy per Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte

    Publicat 2012
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