Search Results - Aleksandra Nadaj‐Pakleza

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  1. 1
    Permanent muscle weakness in M<scp>C</scp>Ardle disease

    Permanent muscle weakness in M<scp>C</scp>Ardle disease by Aleksandra Nadaj‐Pakleza, C. Vincitorio, Pascal Laforêt, B. Eymard, Élisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic

    Published 2009
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  2. 2
    A rise in cases of nitrous oxide abuse: neurological complications and biological findings

    A rise in cases of nitrous oxide abuse: neurological complications and biological findings by Maximilian Einsiedler, Paul Voulleminot, Stanislas Demuth, Pauline Kalaaji, Thomas J. Bogdan, Lucas Gauer, Cécile Reschwein, Aleksandra Nadaj‐Pakleza, de Sèze, Laurent Kremer, Ivana Schroder, Kévin Bigaut

    Published 2021
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  3. 3
    Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

    Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 by Johann Böhm, Frédéric Chevessier, Catherine Koch, Georges Arielle Pêche, Marina Mora, Lucia Morandi, Barbara Pasanisi, Isabella Moroni, Giorgio Tasca, Fabiana Fattori, Enzo Ricci, I. Pénisson-Besnier, Aleksandra Nadaj‐Pakleza, Michel Fardeau, Pushpa Raj Joshi, Marcus Deschauer, Norma B. Romero, B. Eymard, Jocelyn Laporte

    Published 2014
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  4. 4
    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 by L Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj‐Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, A. Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar Rudolf Thal, Jens Reimann, Peter De Jonghe, Jean‐Jacques Martin, Peter Y. Van Den Bergh, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys

    Published 2017
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  5. 5
    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy by Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie‐Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma B. Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaı̈, Nathalie Streichenberger, Véronique Manel, Arnaud Lacour, Aleksandra Nadaj‐Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, B. Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole

    Published 2017
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  6. 6
    Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis

    Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis by Guilhem Solé, Stéphane Mathis, Diane Friedman, Emmanuelle Salort‐Campana, Céline Tard, Françoise Bouhour, Armelle Magot, Djillali Annane, Bernard Clair, Gwendal Le Masson, Antoine Soulages, Fanny Duval, Louis Carla, Marie‐Hélène Violleau, Tiphaine Saulnier, Sandrine Ségovia-Kueny, Léa Kern, Jean‐Christophe Antoine, Guillemette Beaudonnet, Frédérique Audic, Laurent Kremer, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Pascal Cintas, Marco Spinazzi, Alexandra Foubert‐Samier, Shahram Attarian

    Published 2021
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  7. 7
    Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis

    Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis by Tarek Sharshar, Raphaël Porcher, Sophie Demeret, Christine Tranchant, Antoine Guéguen, B. Eymard, Aleksandra Nadaj‐Pakleza, Marco Spinazzi, Lamiae Grimaldi, Simone Birnbaum, Diane Friedman, Bernard Clair, Philippe Aegerter, Djillali Annane, Anne-Catherine Aubé-Nathier, Françis Bolgert, Marie Fleury, Marie-Christine Durand, Pierre‐Marie Gonnaud, Catherine Goulon‐Goeau, Olivier Gout, Frédéric Lofaso, Christophe Marcel, Vivien Pautot, I. Pénisson-Besnier, Hélène Prigent, Benjamin Rohaut, Christophe Vial, Nicolas Weiss

    Published 2021
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  8. 8
    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 by Céline Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne‐Laure Bédat‐Millet, Anthony Béhin, Rémi Bellance, Françoise Bouhour, Célia Boutte, F. Boyer, Emmanuelle Salort‐Campana, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valérie Drouin‐Garraud, Xavier Ferrer, H. Gervais-Bernard, Karima Ghorab, Pascal Laforêt, Armelle Magot, Laurent Magy, Dominique Ménard, Marie-Christine Minot, Aleksandra Nadaj‐Pakleza, Sybille Pellieux, Yann Péréon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Solé, Tanya Stojkovich, V. Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, B. Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez

    Published 2016
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  9. 9
    Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study by Marianela Schiava, Chiseko Ikenaga, Rocío N. Villar‐Quiles, Marta Caballero‐Ávila, Ana Töpf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi de Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh A. Badrising, Alicia Alonso‐Jiménez, Anna Kostera‐Pruszczyk, Francesc X. Miralles, Jin‐Hong Shin, Jorge A. Bevilacqua, Montse Olivé, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy L. Williams, Cristina Domínguez‐González, George K. Papadimas, Jodi Warman‐Chardon, Kristl G. Claeys, Marianne de Visser, Nuria Muelas, Pascal Laforêt, Edoardo Malfatti, Lindsay N. Alfano, Sruthi Nair, Georgios Manousakis, Hani Kushlaf, Matthew Harms, Christopher Nance, Alba Ramos‐Fransí, Carmelo Rodolico, Channa Hewamadduma, Hakan Çetin, Jorge García‐García, Endre Pál, Maria Elena Farrugia, Phillipa J. Lamont, Colin Quinn, Velina Nedkova-Hristova, Stojan Peric, Sushan Luo, Anders Oldfors, Kate Taylor, Stuart H. Ralston, Tanya Stojkovic, Conrad C. Weihl, Jordi Díaz‐Manera

    Published 2022
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  10. 10
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD by Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Published 2025
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  11. 11
    Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

    Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies by Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas Gossios, Neal K. Lakdawala, Caroline Stalens, Frédéric Sacher, Dominique Babuty, Jean‐Noël Trochu, Ghassan Moubarak, Kostantinos Savvatis, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Éloi Marijon, Tanya Stojkovic, Anthony Béhin, Sarah Léonard-Louis, Guilhem Solé, Fabien Labombarda, Pascale Richard, Corinne Métay, Susana Quijano-Roy, Ivana Dabaj, Didier Klug, Marie‐Christine Vantyghem, Philippe Chevalier, Pı̈erre Ambrosi, Emmanuelle Salort, Nicolas Sadoul, Xavier Waintraub, Khadija Chikhaoui, Philippe Mabo, Nicolas Combes, Philippe Maury, Jean‐Marc Sellal, Usha B. Tedrow, Jonathan M. Kalman, Jitendra K. Vohra, Alexander F.A. Androulakis, Katja Zeppenfeld, T. Thompson, Christine Barnérias, Henri-Marc Bécane, Éric Bieth, Franck Boccara, Damien Bonnet, Françoise Bouhour, Stéphane Boulé, Anne‐Claire Bréhin, Françoise Chapon, Pascal Cintas, Jean‐Marie Cuisset, Jean‐Marc Davy, Annachiara De Sandre‐Giovannoli, Florence Démurger, Isabelle Desguerre, Klaus Dieterich, Julien Durigneux, Andoni Echaniz‐Laguna, Romain Eschalier, Ana Ferreiro, Xavier Ferrer, Christine Francannet, Mélanie Fradin, Bénédicte Gaborit, Arnaud Gay, Albert Hagège, Arnaud Isapof, Isabelle Jéru, Raúl Juntas Morales, Emmanuelle Lagrue, Nicolas Lamblin, Olivier Lascols, Vincent Laugel, Arnaud Lazarus, France Leturcq, Nicolas Lévy, Armelle Magot, Véronique Manel, Raphaël P. Martins, M. Mayer, Sandra Mercier, Christophe Meune, Maud Michaud, Marie-Christine Minot-Myhié, Antoine Muchir, Aleksandra Nadaj‐Pakleza, Yann Péréon, Philippe Petiot, Florence Petit, Julien Praline, Anne Rollin, Pascal Sabouraud, Catherine Sarret, S. Schaeffer, Frédéric Taithe, Céline Tard, V. Tiffreau

    Published 2019
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  12. 12
    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial by Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, António Toscano, Ans T. van der Ploeg, Kenneth I. Berger, Paula R. Clemens, Yin‐Hsiu Chien, John Day, С. Н. Иллариошкин, Mark Roberts, Shahram Attarian, João Borges, Francoise Bouhour, Young‐Chul Choi, Sevim Erdem‐Özdamar, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Kristina An Haack, Christopher Hug, Olivier Huynh-Ba, Judith Johnson, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková

    Published 2021
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  13. 13
    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks by Priya S. Kishnani, Jordi Díaz‐Manera, António Toscano, Paula R. Clemens, Shafeeq Ladha, Kenneth I. Berger, Hani Kushlaf, Volker Straub, Gérson Carvalho, Tahseen Mozaffar, Mark Roberts, Shahram Attarian, Yin‐Hsiu Chien, Young‐Chul Choi, John Day, Sevim Erdem‐Özdamar, С. Н. Иллариошкин, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Ans T. van der Ploeg, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková, Nicolas Mavroudakis, Stella Mazurová

    Published 2023
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