Gene therapy in spinal muscular atrophy von Audic, Frédérique

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Motor unit number index: A potential electrophysiological biomarker for pediatric spinal muscular atrophy von Boulay, Christophe, Delmont, Emilien, Audic, Frédérique, Chabrol, Brigitte, Attarian, Shahram

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

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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study von Audic, Frederique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cecilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valerie, Perville, Anne, Testard, Herve, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle

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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management von Lagrue, Emmanuelle, Dogan, Céline, De Antonio, Marie, Audic, Frédérique, Bach, Nathalie, Barnerias, Christine, Bellance, Rémi, Cances, Claude, Chabrol, Brigitte, Cuisset, Jean-Marie, Desguerre, Isabelle, Durigneux, Julien, Espil, Caroline, Fradin, Mélanie, Héron, Delphine, Isapof, Arnaud, Jacquin-Piques, Agnès, Journel, Hubert, Laroche-Raynaud, Cécile, Laugel, Vincent, Magot, Armelle, Manel, Véronique, Mayer, Michèle, Péréon, Yann, Perrier-Boeswillald, Julie, Peudenier, Sylviane, Quijano-Roy, Susana, Ragot-Mandry, Sylvie, Richelme, Christian, Rivier, François, Sabouraud, Pascal, Sarret, Catherine, Testard, Hervé, Vanhulle, Catherine, Walther-Louvier, Ulrike, Gherardi, Romain, Hamroun, Dalil, Bassez, Guillaume

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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center von Morel, Victor, Audic, Frédérique, Tardy, Charlotte, Verschueren, Annie, Attarian, Shahram, Nguyen, Karine, Salort-Campana, Emmanuelle, Krahn, Martin, Chabrol, Brigitte, Gorokhova, Svetlana

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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three ye... von Desguerre, Isabelle, Barrois, Rémi, Audic, Frédérique, Barnerias, Christine, Chabrol, Brigitte, Davion, Jean Baptiste, Durigneux, Julien, Espil-Taris, Caroline, Gomez-Garcia de la Banda, Marta, Guichard, Marine, Isapof, Arnaud, Nougues, Marie Christine, Laugel, Vincent, Le Goff, Laure, Mercier, Sandra, Pervillé, Anne, Richelme, Christian, Thibaud, Marie, Sarret, Catherine, Schweitzer, Cyril, Testard, Hervé, Trommsdorff, Valérie, Vanhulle, Catherine, Walther-Louvier, Ulrike, Altuzarra, Cécilia, Chouchane, Mondher, Ropars, Juliette, Quijano-Roy, Susana, Cances, Claude

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French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD) von Attarian, Shahram, Beloribi-Djefaflia, Sadia, Bernard, Rafaelle, Nguyen, Karine, Cances, Claude, Gavazza, Carole, Echaniz-Laguna, Andoni, Espil, Caroline, Evangelista, Teresinha, Feasson, Léonard, Audic, Frédérique, Zagorda, Berenice, Milhe De Bovis, Virginie, Stojkovic, Tanya, Sole, Guilhem, Salort-Campana, Emmanuelle, Sacconi, Sabrina

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Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter? von Cignetti, Fabien, Vaugoyeau, Marianne, Fontan, Aurelie, Jover, Marianne, Livet, Marie-Odile, Hugonenq, Catherine, Audic, Frédérique, Chabrol, Brigitte, Assaiante, Christine

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Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data von Porcher, Raphaël, Desguerre, Isabelle, Amthor, Helge, Chabrol, Brigitte, Audic, Frédérique, Rivier, François, Isapof, Arnaud, Tiffreau, Vincent, Campana-Salort, Emmanuelle, Leturcq, France, Tuffery-Giraud, Sylvie, Ben Yaou, Rabah, Annane, Djillali, Amédro, Pascal, Barnerias, Christine, Bécane, Henri Marc, Béhin, Anthony, Bonnet, Damien, Bassez, Guillaume, Cossée, Mireille, de La Villéon, Grégoire, Delcourte, Claire, Fayssoil, Abdallah, Fontaine, Bertand, Godart, François, Guillaumont, Sophie, Jaillette, Emmanuelle, Laforêt, Pascal, Leonard-Louis, Sarah, Lofaso, Frederic, Mayer, Michele, Morales, Raul Juntas, Meune, Christophe, Orlikowski, David, Ovaert, Caroline, Prigent, Hélène, Saadi, Malika, Sochala, Maximilien, Tard, Celine, Vaksmann, Guy, Walther-Louvier, Ulrike, Eymard, Bruno, Stojkovic, Tanya, Ravaud, Philippe, Duboc, Denis, Wahbi, Karim

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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation von Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing von Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, Cossée, Mireille

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Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type von Audic, Frédérique, Dubois, Sonia M., Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Nougues, Marie-Christine, Davion, Jean-Baptiste, Richelme, Christian, Vuillerot, Carole, Legoff, Laure, Sabouraud, Pascal, Cances, Claude, Laugel, Vincent, Ropars, Juliette, Espil-Taris, Caroline, Trommsdorff, Valérie, Pervillé, Anne, Garcia-de-la-Banda, Marta Gomez, Testard, Hervé, Chouchane, Mondher, Walther-Louvier, Ulrike, Schweizer, Cyril, Halbert, Cécile, Badri, Myriam, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle

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

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Severe Phenotype in Patients with Large Deletions of NF1 von Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Theodora, Barbance, Cecile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga O., Damaj, Lena, Layet, Valerie, Quelin, Chloe, Gilbert-Dussardier, Brigitte, Audic, Frederique, Dollfus, Helene, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschke, Patrick, Petit, Florence, Coeslier, Anne Dieux, Mutez, Eugenie, Taieb, Alain, Fradin, Melanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Genevieve, David, Audebert-Bellanger, Severine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gael, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Beatrice, Vidaud, Michel, Wolkenstein, Pierre, Pasmant, Eric

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Quick and sustained clinical response to MEK inhibitor I in a NF1 patient with neurofibromas von Papalia, Honoré, Audic, Frédérique, Rivière, Gabriel Revon, Verschuur, Arnauld, André, Nicolas

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Are morphological and structural MRI characteristics related to specific cognitive impairments in neurofibromatosis type 1 (NF1) children? von Baudou, Eloïse, Nemmi, Federico, Biotteau, Maëlle, Maziero, Stéphanie, Assaiante, Christine, Cignetti, Fabien, Vaugoyeau, Marianne, Audic, Frederique, Peran, Patrice, Chaix, Yves

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Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy von Cerino, Mathieu, Di Meglio, Chloé, Albertini, Francesca, Audic, Frédérique, Riccardi, Florence, Boulay, Christophe, Philip, Nicole, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin, Chabrol, Brigitte

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General anesthesia for Crisponi syndrome: case report von Allary, Chloé, Caruselli, Marco, Fabre, Alexandre, Audic, Frédérique, Michel, Fabrice

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Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis: Neurology von Sole, Guilhem, Mathis, Stephane, Friedman, Diane, Salort-Campana, Emmanuelle, Tard, Celine, Bouhour, Francoise, Magot, Armelle, Annane, Djillali, Clair, Bernard, Le Masson, Gwendal, Soulages, Antoine, Duval, Fanny, Carla, Louis, Violleau, Marie-Helene, Saulnier, Tiphaine, Segovia-Kueny, Sandrine, Kern, Lea, Antoine, Jean-Christophe, Beaudonnet, Guillemette, Audic, Frederique, Kremer, Laurent, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Stojkovic, Tanya, Cintas, Pascal, Spinazzi, Marco, Foubert-Samier, Alexandra, Attarian, Shahram

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