Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing by Theuriet, Julian, Fernandez-Eulate, Gorka, Latour, Philippe, Stojkovic, Tanya, Masingue, Marion, Vidoni, Léo, Bernard, Emilien, Jacquier, Arnaud, Schaeffer, Laurent, Salort-Campana, Emmanuelle, Chanson, Jean-Baptiste, Pakleza, Aleksandra Nadaj, Kaminsky, Anne-Laure, Svahn, Juliette, Manel, Véronique, Bouhour, Françoise, Pegat, Antoine

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A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis by Roucher Boulez, Florence, Menassa, Rita, Streichenberger, Nathalie, Manel, Véronique, Mallet-Motak, Delphine, Morel, Yves, Michel-Calemard, Laurence

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Neonatal tremor episodes and hyperekplexia‐like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy by Pons, Linda, Lesca, Gaëtan, Sanlaville, Damien, Chatron, Nicolas, Labalme, Audrey, Manel, Véronique, Arzimanoglou, Alexis, de Bellescize, Julitta, Lion‐François, Laurence

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Predicting intraoperative feasibility of combined TES-mMEP and cSSEP monitoring during scoliosis surgery based on preoperative neurophysiological assessment by Azabou, Eric, MD, Manel, Véronique, MD, Abelin-Genevois, Kariman, MD, Andre-Obadia, Nathalie, MD, Cunin, Vincent, MD, Garin, Christophe, MD, Kohler, Remi, MD, PhD, Berard, Jérôme, MD, PhD, Ulkatan, Sedat, MD, PhD

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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies by 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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Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres by Laberthonnière, Camille, Novoa‐del‐Toro, Elva‐Maria, Delourme, Mégane, Chevalier, Raphaël, Broucqsault, Natacha, Mazaleyrat, Kilian, Streichenberger, Nathalie, Manel, Véronique, Bernard, Rafaëlle, Salort Campana, Emmanuelle, Attarian, Shahram, Nguyen, Karine, Robin, Jérôme D., Baudot, Anais, Magdinier, Frédérique

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Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study by Viguier, Agnès, Lauwers-Cances, Valérie, Cintas, Pascal, Manel, Véronique, Peudenier, Sylviane, Desguerre, Isabelle, Quijano-Roy, Susana, Vanhulle, Catherine, Fradin, Mélanie, Isapof, Arnaud, Jokic, Michaël, Mathieu-Dramard, Michèle, Dieterich, Klaus, Petit, Florence, Magdelaine, Corinne, Giuliano, Fabienne, Gras, Domitille, Haye, Damien, Nizon, Mathilde, Magen, Maryse, Bieth, Eric, Cances, Claude

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

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A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy by Barrois, R., Barnerias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cances, C., Cintas, P., Davion, J.B., Espil-Taris, C., Manel, V., Pereon, Y., Piarroux, J., Quijano Roy, S., Vuillerot, C., Walther-Louvier, U., Desguerre, I., Gitiaux, C.

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A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child: Remaining Challenges for Diagnosis, Nosologic Classification, and Therapeutic Course by Pons, Linda, Manel, Véronique, Ville, Dorothée, Javouhey, Etienne, Bordet, Fabienne

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Optimal parameters of transcranial electrical stimulation for intraoperative monitoring of motor evoked potentials of the tibialis anterior muscle during pediatric scoliosis surger... by Azabou, E, Manel, V, Andre-obadia, N, Fischer, C, Mauguiere, F, Peiffer, C, Lofaso, F, Shils, J.L

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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis by Theuriet, Julian, Masingue, Marion, Behin, Anthony, Ferreiro, Ana, Bassez, Guillaume, Jaubert, Pauline, Tarabay, Oriana, Fer, Frédéric, Pegat, Antoine, Bouhour, Françoise, Svahn, Juliette, Petiot, Philippe, Jomir, Laurentiu, Chauplannaz, Guy, Cornut-Chauvinc, Catherine, Manel, Véronique, Salort-Campana, Emmanuelle, Attarian, Shahram, Fortanier, Etienne, Verschueren, Annie, Kouton, Ludivine, Camdessanché, Jean-Philippe, Tard, Céline, Magot, Armelle, Péréon, Yann, Noury, Jean-Baptiste, Minot-Myhie, Marie-Christine, Perie, Maud, Taithe, Frederic, Farhat, Yacine, Millet, Anne-Laure, Cintas, Pascal, Solé, Guilhem, Spinazzi, Marco, Esselin, Florence, Renard, Dimitri, Sacconi, Sabrina, Ezaru, Andra, Malfatti, Edoardo, Mallaret, Martial, Magy, Laurent, Diab, Eva, Merle, Philippe, Michaud, Maud, Fournier, Maxime, Pakleza, Aleksandra Nadaj, Chanson, Jean-Baptiste, Lefeuvre, Claire, Laforet, Pascal, Richard, Pascale, Sternberg, Damien, Villar-Quiles, Rocio-Nur, Stojkovic, Tanya, Eymard, Bruno

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Dystrophie facio-scapulo-humérale : une maladie multisystémique chez l’enfant by Rivier, François, Walther-Louvier, Ulrike, Meyer, Pierre, Cances, Claude, Espil-Taris, Caroline, Manel, Véronique, Jeanpierre, Marc

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Dystrophie Musculaire Facio-Scapulo-Humérale (DMFSH) associée au syndrome de délétion du chromosome 18 (18p-) by Capet, Nicolas, Dimitri, Renard, Feasson, Leonard, Manel, Véronique, Echaniz-Laguna, Andoni, Kien, Philippe Khau Van, Sacconi, Sabrina

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Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria by Robert‐Varvat, Florence, Jousserand, Guillemette, Bouhour, Françoise, Vial, Christophe, Cintas, Pascal, Echaniz‐Laguna, Andoni, Delmont, Emilien, Clavelou, Pierre, Chauplannaz, Guy, Jomir, Laurent, Pereon, Yann, Leonard‐Louis, Sarah, Manel, Veronique, Antoine, Jean‐Christophe, Lacour, Arnaud, Camdessanche, Jean‐Philippe

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Environmental DNA metabarcoding reveals and unpacks a biodiversity conservation paradox in Mediterranean marine reserves by Boulanger, Emilie, Loiseau, Nicolas, Valentini, Alice, Arnal, Véronique, Boissery, Pierre, Dejean, Tony, Deter, Julie, Guellati, Nacim, Holon, Florian, Juhel, Jean-Baptiste, Lenfant, Philippe, Manel, Stéphanie, Mouillot, David

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Ecological indicators based on quantitative eDNA metabarcoding: the case of marine reserves by Sanchez, Loïc, Boulanger, Emilie, Arnal, Véronique, Boissery, Pierre, Dalongeville, Alicia, Dejean, Tony, Deter, Julie, Guellati, Nacim, Holon, Florian, Juhel, Jean-Baptiste, Lenfant, Philippe, Leprieur, Fabien, Valentini, Alice, Manel, Stéphanie, Mouillot, David

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Prenatal dietary exposure to chemicals and allergy or respiratory diseases in children in the EDEN mother–child cohort by Ghozal, Manel, Kadawathagedara, Manik, Delvert, Rosalie, Adel-Patient, Karine, Tafflet, Muriel, Annesi-Maesano, Isabella, Crépet, Amélie, Sirot, Véronique, Charles, Marie Aline, Heude, Barbara, de Lauzon-Guillain, Blandine

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Evaluating bioinformatics pipelines for population‐level inference using environmental DNA by Macé, Bastien, Hocdé, Régis, Marques, Virginie, Guerin, Pierre‐Edouard, Valentini, Alice, Arnal, Véronique, Pellissier, Loïc, Manel, Stéphanie

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A turn-on fluorescent ion-imprinted polymer for selective and reliable optosensing of lead in real water samples by René, William, Lenoble, Véronique, Chioukh, Manel, Branger, Catherine

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