Detection of interferon alpha protein reveals differential levels and cellular sources in disease von Rodero, Mathieu P, Decalf, Jérémie, Bondet, Vincent, Hunt, David, Rice, Gillian I, Werneke, Scott, McGlasson, Sarah L, Alyanakian, Marie-Alexandra, Bader-Meunier, Brigitte, Barnerias, Christine, Bellon, Nathalia, Belot, Alexandre, Bodemer, Christine, Briggs, Tracy A, Desguerre, Isabelle, Frémond, Marie-Louise, Hully, Marie, van den Maagdenberg, Arn M J M, Melki, Isabelle, Meyts, Isabelle, Musset, Lucile, Pelzer, Nadine, Quartier, Pierre, Terwindt, Gisela M, Wardlaw, Joanna, Wiseman, Stewart, Rieux-Laucat, Frédéric, Rose, Yoann, Neven, Bénédicte, Hertel, Christina, Hayday, Adrian, Albert, Matthew L, Rozenberg, Flore, Crow, Yanick J, Duffy, Darragh

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients von Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

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Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern von Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Germain, Dominique P., Richard, Pascale, Bulacio, Sebastian, Mompoint, Dominique, Quijano-Roy, Susana

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Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells von Cardone, Nastasia, Taglietti, Valentina, Baratto, Serena, Kefi, Kaouthar, Periou, Baptiste, Gitiaux, Ciryl, Barnerias, Christine, Lafuste, Peggy, Pharm, France Leturcq, Pharm, Juliette Nectoux, Panicucci, Chiara, Desguerre, Isabelle, Bruno, Claudio, Authier, François-Jerome, Fiorillo, Chiara, Relaix, Frederic, Malfatti, Edoardo

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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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Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1 von Boursange, Sophie, Araneda, Marco, Stalens, Caroline, Desguerre, Isabelle, Barnerias, Christine, Nougues, Marie-Christine, Isapof, Arnaud, Quijano-Roy, Susana, Blu Genestine, Nadia, Ouillade, Laetitia, Martinez Jalilie, Maripaz, Castiglioni, Claudia, Boespflug-Tanguy, Odile, Gargiulo, Marcela

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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports von Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle

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Sleep study as a diagnostic tool for unexplained respiratory failure in infants hospitalized in the PICU von Griffon, Lucie, MD, Amaddeo, Alessandro, MD, Mortamet, Guillaume, MD, Barnerias, Christine, MD, Abadie, Véronique, MD, PhD, Olmo, Jorge, BSc, de Sanctis, Livio, MSc, Renolleau, Sylvain, MD, PhD, Fauroux, Brigitte, MD, PhD

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Epileptic spasms in congenital disorders of glycosylation von Pereira, Andreia G., Bahi‐Buisson, Nadia, Barnerias, Christine, Boddaert, Nathalie, Nabbout, Rima, de Lonlay, Pascale, Kaminska, Anna, Eisermann, Monika

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Hemiconvulsion–hemiplegia syndrome revisited: longitudinal MRI findings in 10 children von Barcia, Giulia, Desguerre, Isabelle, Carmona, Orietta, Barnerias, Christine, Chemaly, Nicole, Gitiaux, Cyril, Brunelle, Francis, Dulac, Olivier, Boddaert, Nathalie, Nabbout, Rima

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Fatal Thrombotic Microangiopathy Case following Adeno-Associated Viral SMN Gene Therapy von Guillou, Julia, de Pellegars, Alice, Porcheret, Florence, Frémeaux-Bacchi, Véronique, Allain-Launay, Emma, Debord, Camille, Denis, Manon, Péréon, Yann, Barnérias, Christine, Desguerre, Isabelle, Roussey, Gwenaëlle, Mercier, Sandra

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Adenoviral Infection Presenting as an Isolated Central Nervous System Disease without Detectable Viremia in Two Children after Stem Cell Transplantation von FRANGE, Pierre, PEFFAULT DE LATOUR, Régis, TOUZOT, Fabien, LORTHOLARY, Olivier, FISCHER, Alain, BLANCHE, Stéphane, ARNAUD, Cécile, BODDAERT, Nathalie, OUALHA, Mehdi, AVETTAND-FENOEL, Véronique, BERNAUDIN, Françoise, AGUILAR, Claire, BARNERIAS, Christine, LERUEZ-VILLE, Marianne

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Epilepsy in Menkes Disease: Analysis of Clinical Stages von Bahi‐Buisson, Nadia, Kaminska, Anna, Nabbout, Rima, Barnerias, Christine, Desguerre, Isabelle, De Lonlay, Pascale, Mayer, Michele, Plouin, Perrine, Dulac, Olivier, Chiron, Catherine

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Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study von Barrois, Rémi, Griffon, Lucie, Barnerias, Christine, Gitiaux, Cyril, Desguerre, Isabelle, Fauroux, Brigitte, Khirani, Sonia

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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies von Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K, Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B, Vohra, Jitendra, Androulakis, Alexander F.A, Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferreiro, Ana, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mercier, Sandra, Michaud, Maud, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, Duboc, Denis

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Clinical features and evolution of juvenile myasthenia gravis in a French cohort von Barraud, Coline, Desguerre, Isabelle, Barnerias, Christine, Gitiaux, Cyril, Boulay, Christophe, Chabrol, Brigitte

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Limitations of the apnea-hypopnea index in children and young adults with neuromuscular disorders von Ronco, Lucia, Khirani, Sonia, Vedrenne-Cloquet, Meryl, Barrois, Remi, Barnerias, Christine, Desguerre, Isabelle, Bignamini, Elisabetta, Fauroux, Brigitte

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Motor neuropathy contributes to crouching in patients with Dravet syndrome von Gitiaux, Cyril, Chemaly, Nicole, Quijano-Roy, Susana, Barnerias, Christine, Desguerre, Isabelle, Hully, Marie, Chiron, Catherine, Dulac, Olivier, Nabbout, Rima

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Unusual magnetic resonance imaging features in Menkes disease von Barnerias, Christine, Boddaert, Nathalie, Pascale, Guiraud, Isabelle, Desguerre, Hertz Pannier, Lucie, Dulac, Olivier, de Lonlay, Pascale, Bahi Buisson, Nadia

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Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia von Sperelakis-Beedham, Brian, Gitiaux, Cyril, Rajaoba, Marine, Magen, Maryse, Derive, Nicolas, Chansard, Jerome, de Sainte Agathe, Jean-Madeleine, Maurin, Marie-Laure, Assouline, Zahra, Barnerias, Christine, Desguerre, Isabelle, Steffann, Julie, Barcia, Giulia

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