Hasil Pencarian - Aleksandra Nadaj-Pakleza

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  1. 1
    The <i>FLNC</i> Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability

    The <i>FLNC</i> Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability oleh Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Flavie Ader, Corinne Thèze, Pascal Cintas, Claude Cances, Robert-Yves Carlier, Corinne Metay, Mireille Cossée, Edoardo Malfatti

    Diterbitkan 2024-01-01
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  2. 2
    Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

    Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy oleh Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, The French FSHD registry collaboration group

    Diterbitkan 2022-03-01
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  3. 3
    Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

    Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases oleh Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys

    Diterbitkan 2017-05-01
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  4. 4
    Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

    Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment oleh Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti

    Diterbitkan 2019-10-01
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  5. 5
    A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

    A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases oleh Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian

    Diterbitkan 2021-10-01
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  6. 6
    Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

    Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. oleh Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez

    Diterbitkan 2016-01-01
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  7. 7
    In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study

    In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study oleh Jérémie Sellam, Laurent Arnaud, Marta Mosca, Florenzo Iannone, Luca Diamanti, Luca Iaccarino, Aurélien Guffroy, Jacques-Eric Gottenberg, Veronica Codullo, Alain Meyer, Simone Barsotti, Jelena Blagojevic, Lorenzo Cavagna, François Séverac, Bernard Geny, Jean Sibilia, Marie Hudson, François Maurier, Benjamin Terrier, Silvia Bellando-Randone, Emanuelle Dernis, Carlotta Nannini, Marion Couderc, Anne Tournadre, Jean Jacques Dubost, Albert Selva-O'Callaghan, Claire de Moreuil, Giacomo Emmi, Baptiste Hervier, Guilhem Sole, Philippe Guilpain, Jean-François Viallard, Aleksandra Nadaj-Pakleza, Enrico Marchioni, Monica Groza, Sergio Prieto-González, Nicolas Poursac, Isabelle Guichard, Kubéraka Mariampillai, Yves Troyanov, Luc Pijnenburg, Antoine Soulages, Jean-Marc Galempoix, Margherita Giannini, Maude Bouchard-Marmen, Livio Bernardi, Paola Bini, Fanny Duval, Delphine Lebrun, Jean-Maxime Piot, Eglantine Rouanet, Nathalie Vernier, Veronique Vesperini, Rahima Ziane

    Diterbitkan 2023-07-01
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