Severe brain involvement in 5q spinal muscular atrophy type 0 von Mendonça, Rodrigo H., Rocha, Antônio J., Lozano‐Arango, Andres, Diaz, Astry B., Castiglioni, Claudia, Silva, André M. S., Reed, Umbertina C., Kulikowski, Leslie, Paramonov, Ida, Cuscó, Ivon, Tizzano, Eduardo F., Zanoteli, Edmar

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations von Rodríguez Cruz, Pedro M, Cossins, Judith, Estephan, Eduardo de Paula, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David

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Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis von Estephan, Eduardo P., Zambon, Antonio A., Thompson, Rachel, Polavarapu, Kiran, Jomaa, Danny, Töpf, Ana, Helito, Paulo V. P., Heise, Carlos O., Moreno, Cristiane A. M., Silva, André M. S., Kouyoumdjian, Joao A., Morita, Maria da Penha, Reed, Umbertina C., Lochmüller, Hanns, Zanoteli, Edmar

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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms von Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O'Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment von Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan

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Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement von Dabaj, Ivana, Carlier, Robert Y, Gómez‐Andrés, David, Neto, Osório Abath, Bertini, Enrico, D'amico, Adele, Fattori, Fabiana, PéRéon, Yann, Castiglioni, Claudia, Rodillo, Eliana, Catteruccia, Michela, Guimarães, júlio Brandão, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean‐François, Malfatti, Edoardo, Bonnemann, Carsten, Laporte, Jocelyn, Romero, Norma, Felter, Adrien, Quijano‐Roy, Susana, Moreno, Cristiane Araújo Martins, Zanoteli, Edmar

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Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen von de Holanda Mendonça, Rodrigo, Jorge Polido, Graziela, Ciro, Matsui, Jorge Fontoura Solla, Davi, Conti Reed, Umbertina, Zanoteli, Edmar

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Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization von Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L, Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M, Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B, Machado-Costa, Marcela C, Wallgren-Pettersson, Carina, Laing, Nigel G, Nigro, Vincenzo, Vainzof, Mariz

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Therapeutic advances in 5q-linked spinal muscular atrophy von Reed, Umbertina Conti, Zanoteli, Edmar

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Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy von Winckler, Pablo B., Silva, André M.S., Coimbra‐Neto, Antônio R., Carvalho, Elmano, Cavalcanti, Eduardo B.U., Sobreira, Cláudia F.R., Marrone, Carlo D., Machado‐Costa, Marcela C., Carvalho, Alzira A.S., Feio, Raimunda H.F., Rodrigues, Cleonísio L., Gonçalves, Marcus V.M., Tenório, Renata B., Mendonça, Rodrigo H., Cotta, Ana, Paim, Júlia F.O., Costa e Silva, Cynthia, Aquino Cruz, Camila, Bená, Marjory I., Betancur, Daniel F.A., El Husny, Antonette S., Souza, Isabel C.N., Duarte, Regina C.B., Reed, Umbertina C., Chaves, Márcia L.F., Zanoteli, Edmar, França, Marcondes C., Saute, Jonas A.

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Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid von Darbar, Illora A, Plaggert, Paulo G, Resende, Maria Bernadete D, Zanoteli, Edmar, Reed, Umbertina C

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Reply to “Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0” von Mendonça, Rodrigo H., Rocha, Antônio J., Lozano‐Arango, Andres, Diaz, Astry B., Castiglioni, Claudia, Silva, André M. S., Reed, Umbertina C., Kulikowski, Leslie, Paramonov, Ida, Cuscó, Ivon, Tizzano, Eduardo F., Zanoteli, Edmar

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Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience von Mendonça, Rodrigo H., Polido, Graziela J., Matsui, Ciro, Silva, André M.S., Solla, Davi J.F., Reed, Umbertina C., Zanoteli, Edmar

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Cross-sectional survey study of the natural history of LAMA2-related dystrophy von Camelo, Clara Gontijo, Artilheiro, Mariana Cunha, Fernandes, Tatiana Ribeiro, Moreno, Cristiane de Araújo Martins, Fonseca, Alulin Tácio Quadros Santos Monteiro, Reed, Umbertina Conti, Zanoteli, Edmar

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A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels von Abath Neto, Osorio, MD, PhD, Silva, Marina Rodrigues e, Martins, Cristiane de Araújo, MD, Oliveira, Acary de Souza Bulle, MD, PhD, Reed, Umbertina Conti, MD, PhD, Biancalana, Valérie, PhD, Pesquero, João Bosco, PhD, Laporte, Jocelyn, PhD, Zanoteli, Edmar, MD, PhD

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Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort von Pasqualin, Lívia M.A., MD, PhD, Reed, Umbertina C., MD, PhD, Costa, Thais V.M.M., MS, Quedas, Elisângela, MS, Albuquerque, Marco A.V., MD, PhD, Resende, Maria B.D., MD, PhD, Rutkowski, Anne, MD, Chadi, Gerson, MD, PhD, Zanoteli, Edmar, MD, PhD

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The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates von Silva, André Macedo Serafim, Rodrigo, Patricia, Moreno, Cristiane Araújo Martins, Mendonça, Rodrigo de Holanda, Estephan, Eduardo de Paula, Camelo, Clara Gontijo, Campos, Eliene Dutra, Dias, Alexandre Torchio, Nascimento, Amom Mendes, Kulikowski, Leslie Domenici, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Goldfarb, Lev G, Olivé, Montse, Zanoteli, Edmar

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Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients von Galleni Leão, Leonardo, Santos Souza, Lucas, Nogueira, Letícia, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, Reed, Umbertina C, Oliveira, Acary S.B., Cuperman, Thais, Cotta, Ana, FPaim, Julia, Zatz, Mayana, Vainzof, Mariz

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DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy von Abath Neto, Osorio, Martins, Cristiane de Araújo, Carvalho, Mary, Chadi, Gerson, Seitz, Katia Werneck, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Laporte, Jocelyn, Zanoteli, Edmar

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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation von Abath Neto, Osorio, Heise, Carlos Otto, Moreno, Cristiane de Araújo Martins, Estephan, Eduardo de Paula, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Biancalana, Valérie, Laporte, Jocelyn, Zanoteli, Edmar

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