Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy von Feichtinger, René G., Mucha, Bettina E., Hengel, Holger, Orfi, Zakaria, Makowski, Christine, Dort, Junio, D'Anjou, Guy, Nguyen, Thi Tuyet Mai, Buchert, Rebecca, Juenger, Hendrik, Freisinger, Peter, Baumeister, Sarah, Schoser, Benedikt, Ahting, Uwe, Keimer, Reinhard, Nguyen, Cam-Tu Emilie, Fabre, Paul, Gauthier, Julie, Miguet, Marguerite, Lopes, Fátima, AlHakeem, Afnan, AlHashem, Amal, Tabarki, Brahim, Kandaswamy, Krishna Kumar, Bauer, Peter, Steinbacher, Peter, Prokisch, Holger, Sturm, Marc, Strom, Tim M., Ellezam, Benjamin, Mayr, Johannes A., Schöls, Ludger, Michaud, Jacques L., Campeau, Philippe M., Haack, Tobias B., Dumont, Nicolas A.

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Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation von Hamdan, Fadi F, Gauthier, Julie, Spiegelman, Dan, Noreau, Anne, Yang, Yan, Pellerin, Stéphanie, Dobrzeniecka, Sylvia, Côté, Mélanie, Perreau-Linck, Elizabeth, Carmant, Lionel, D'Anjou, Guy, Fombonne, Éric, Addington, Anjene M, Rapoport, Judith L, Delisi, Lynn E, Krebs, Marie-Odile, Mouaffak, Faycal, Joober, Ridha, Mottron, Laurent, Drapeau, Pierre, Marineau, Claude, Lafrenière, Ronald G, Lacaille, Jean Claude, Rouleau, Guy A, Michaud, Jacques L

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SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy von Swoboda, Kathryn J, Scott, Charles B, Crawford, Thomas O, Simard, Louise R, Reyna, Sandra P, Krosschell, Kristin J, Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K, D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W, Sorenson, Susan L, Maczulski, Jo Anne, Bromberg, Mark B, Chan, Gary M, Kissel, John T

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Phase II open label study of valproic acid in spinal muscular atrophy von Swoboda, Kathryn J, Scott, Charles B, Reyna, Sandra P, Prior, Thomas W, LaSalle, Bernard, Sorenson, Susan L, Wood, Janine, Acsadi, Gyula, Crawford, Thomas O, Kissel, John T, Krosschell, Kristin J, D'Anjou, Guy, Bromberg, Mark B, Schroth, Mary K, Chan, Gary M, Elsheikh, Bakri, Simard, Louise R

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Association Between Infantile Spasms and Nonaccidental Head Injury von Birca, Ala, D’Anjou, Guy, Carmant, Lionel

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SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy von Kissel, John T., Elsheikh, Bakri, King, Wendy M., Freimer, Miriam, Scott, Charles B., Kolb, Stephen J., Reyna, Sandra P., Crawford, Thomas O., Simard, Louise R., Krosschell, Kristin J., Acsadi, Gyula, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan, Maczulski, Jo Anne, Swoboda, Kathryn J.

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Behaviour disorders in children with an intellectual disability von Ageranioti-Bélanger, Stacey, Brunet, Suzanne, D'Anjou, Guy, Tellier, Geneviève, Boivin, Johanne, Gauthier, Marie

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Perspectives on Clinical Trials in Spinal Muscular Atrophy von Swoboda, Kathryn J., Kissel, John T., Crawford, Thomas O., Bromberg, Mark B., Acsadi, Gyula, D'Anjou, Guy, Krosschell, Kristin J., Reyna, Sandra P., Schroth, Mary K., Scott, Charles B., Simard, Louise R.

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies von Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

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Evolution and Treatment of Childhood Chronic Inflammatory Polyneuropathy von Rossignol, Elsa, MD, D’Anjou, Guy, MD, Lapointe, Normand, MD, MSC, Haddad, Elie, MD, PhD, Vanasse, Michel, MD

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Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability von Hamdan, Fadi F., Gauthier, Julie, Araki, Yoichi, Lin, Da-Ting, Yoshizawa, Yuhki, Higashi, Kyohei, Park, A-Reum, Spiegelman, Dan, Dobrzeniecka, Sylvia, Piton, Amélie, Tomitori, Hideyuki, Daoud, Hussein, Massicotte, Christine, Henrion, Edouard, Diallo, Ousmane, Shekarabi, Masoud, Marineau, Claude, Shevell, Michael, Maranda, Bruno, Mitchell, Grant, Nadeau, Amélie, D'Anjou, Guy, Vanasse, Michel, Srour, Myriam, Lafrenière, Ronald G., Drapeau, Pierre, Lacaille, Jean Claude, Kim, Eunjoon, Lee, Jae-Ran, Igarashi, Kazuei, Huganir, Richard L., Rouleau, Guy A., Michaud, Jacques L.

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Congenital Axonal Neuropathy and Encephalopathy von Chau, Vann, MD, Clément, Jean-François, MD, Robitaille, Yves, MD, D’Anjou, Guy, MD, Vanasse, Michel, MD

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Intellectual disability without epilepsy associated with STXBP1 disruption von Hamdan, Fadi F, Gauthier, Julie, Dobrzeniecka, Sylvia, Lortie, Anne, Mottron, Laurent, Vanasse, Michel, D'Anjou, Guy, Lacaille, Jean Claude, Rouleau, Guy A, Michaud, Jacques L

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Compound muscle action potential and motor function in children with spinal muscular atrophy von Lewelt, Aga, Krosschell, Kristin J., Scott, Charles, Sakonju, Ai, Kissel, John T., Crawford, Thomas O., Acsadi, Gyula, D'anjou, Guy, Elsheikh, Bakri, Reyna, Sandra P., Schroth, Mary K., Maczulski, Jo Anne, Stoddard, Gregory J., Elovic, Elie, Swoboda, Kathryn J.

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SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy von Kissel, John T, Scott, Charles B, Reyna, Sandra P, Crawford, Thomas O, Simard, Louise R, Krosschell, Kristin J, Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K, D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W, Sorenson, Susan, Maczulski, Jo Anne, Bromberg, Mark B, Chan, Gary M, Swoboda, Kathryn J

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Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I von Krosschell, Kristin J., Kissel, John T., Townsend, Elise L., Simeone, Sarah D., Zhang, Ren Zhe, Reyna, Sandra P., Crawford, Thomas O., Schroth, Mary K., Acsadi, Gyula, Kishnani, Priya S., Von Kleist‐Retzow, Jürgen‐Christoph, Hero, Barbara, D'Anjou, Guy, Smith, Edward C., Elsheikh, Bakri, Simard, Louise R., Prior, Thomas W., Scott, Charles B., Lasalle, Bernard, Sakonju, Ai, Wirth, Brunhilde, Swoboda, Kathryn J.

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Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study von Toupin, Jean-François, Lortie, Anne, Major, Philippe, Diadori, Paola, Vanasse, Michel, Rossignol, Elsa, D'Anjou, Guy, Perreault, Sebastien, Larbrisseau, Albert, Carmant, Lionel, Birca, Ala

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SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy von Kissel, John T, Scott, Charles B, Reyna, Sandra P, Crawford, Thomas O, Simard, Louise R, Krosschell, Kristin J, Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K, D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W, Sorenson, Susan, Maczulski, Jo Anne, Bromberg, Mark B, Chan, Gary M, Swoboda, Kathryn J

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Guillain-Barré Syndrome Following HINI Immunization in a Pediatric Patient von TREMBLAY, Marie-Eve, CLOSON, Aurélie, D'ANJOU, Guy, BUSSIERES, Jean-François

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A Multicenter Phase II Open-Label Trial of L-Carnitine and Valproic Acid in Infants with Spinal Muscular Atrophy Type I (P03.045) von Swoboda, Kathryn, Krosschell, Kristin, Crawford, Thomas, Kissel, John, Scott, Charles, Schroth, Mary, Acsadi, Gyula, Kishnani, Priya, von Kleist-Retzow, Jurgen-Christoph, D'Anjou, Guy, Smith, Edward, Elsheikh, Bakri, Simard, Louise, Prior, Thomas, Tran, Allen, LaSalle, Bernard, Reyna, Sandra

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