Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study von Méneret, Aurélie, Mohammad, Shekeeb S., Cif, Laura, Doummar, Diane, DeGusmao, Claudio, Anheim, Mathieu, Barth, Magalie, Damier, Philippe, Demonceau, Nathalie, Friedman, Jennifer, Gallea, Cécile, Gras, Domitille, Gurgel‐Giannetti, Juliana, Innes, Emily A., Necpál, Ján, Riant, Florence, Sagnes, Sandrine, Sarret, Catherine, Seliverstov, Yury, Paramanandam, Vijayashankar, Shetty, Kuldeep, Tranchant, Christine, Doulazmi, Mohamed, Vidailhet, Marie, Pringsheim, Tamara, Roze, Emmanuel

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Myocardial Delayed Enhancement by Magnetic Resonance Imaging in Patients With Muscular Dystrophy von Silva, Marly Conceição, MD, Meira, Zilda Maria Alves, MD, PhD, Gurgel Giannetti, Juliana, MD, PhD, da Silva, Marcelo Moreira, Oliveira Campos, Alysson Félix, RT, de Melo Barbosa, Márcia, MD, PhD, Filho, Geraldo Moll Starling, MD, de Aguiar Ferreira, Rogério, MD, Zatz, Mayana, PhD, Rochitte, Carlos Eduardo, MD, PhD

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Scientific rationale for a higher dose of nusinersen von Finkel, Richard S., Ryan, Monique M., Pascual Pascual, Samuel Ignacio, Day, John W., Mercuri, Eugenio, De Vivo, Darryl C., Foster, Richard, Montes, Jacqueline, Gurgel‐Giannetti, Juliana, MacCannell, Drew, Berger, Zdenek

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Muscle regeneration in spastic muscles of children with cerebral palsy von Vainzof, Mariz, Gurgel‐Giannetti, Juliana

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The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil von Campolina-Sampaio, Gabriela Palhares, Lasmar, Laura Maria de Lima Belizário Facury, Ribeiro, Beatriz Silva Vilela, Giannetti, Juliana Gurgel

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Why should a 5q spinal muscular atrophy neonatal screening program be started? von Becker, Michele Michelin, Nardes, Flávia, Dangouloff, Tamara, Servais, Laurent, Araujo, Alexandra Prufer de Queiroz Campos, Gurgel-Giannetti, Juliana

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Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita von Souza, Lucas Santos, Calyjur, Priscila, Ribeiro, Antonio Fernando, Gurgel-Giannetti, Juliana, Pavanello, Rita Cassia Mingroni, Zatz, Mayana, Vainzof, Mariz

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Brazilian version of the Hammersmith Functional Motor Scale Expanded: cross-cultural adaptation and validation von Moura, Ana Carolina Monteiro Lessa de, Carvalhais, Marina Belisário, Sampaio, Gabriela Palhares Campolina, Pinhati, Clara Catharino, Montes, Jacqueline, Gurgel-Giannetti, Juliana

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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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Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy von Zanoteli, Edmar, Araujo, Alexandra Prufer de Queiróz Campos, Becker, Michele Michelin, Fortes, Clarisse Pereira Dias Drumond, França, Jr, Marcondes Cavalcante, Machado-Costa, Marcela Camara, Marques, Jr, Wilson, Matsui, Jr, Ciro, Mendonça, Rodrigo Holanda, Nardes, Flávia, Oliveira, Acary Souza Bulle, Pessoa, Andre Luis Santos, Saute, Jonas Alex Morales, Sgobbi, Paulo, Van der Linden, Jr, Hélio, Gurgel-Giannetti, Juliana

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Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group von Sampaio, Leticia Pereira de Brito, Manreza, Maria Luiza Giraldes de, Pessoa, André, Gurgel-Giannetti, Juliana, Coan, Ana Carolina, Júnior, Hélio van der Linden, Embiruçu, Emília Katiane, Henriques-Souza, Adélia Maria de Miranda, Kok, Fernando

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POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family von Gurgel-Giannetti, Juliana, Camargos, Sarah Teixeira, Cardoso, Francisco, Hirano, Michio, DiMauro, Salvatore

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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins von Jehee, Fernanda S., de Oliveira, Valdirene T., Gurgel‐Giannetti, Juliana, Pietra, Rafaella X., Rubatino, Fernando V. M., Carobin, Natália V., Vianna, Gabrielle S., de Freitas, Mariana L., Fernandes, Karla S., Ribeiro, Beatriz S. V., Brüggenwirth, Hennie T., Ali‐Amin, Roza, White, Janson J., Akdemir, Zeynep C., Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R., Varela, Monica C., Koiffmann, Célia, Rosenberg, Carla, Carvalho, Cláudia M. B.

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Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy von Araujo, Alexandra Prufer de Queiroz Campos, Saute, Jonas Alex Morales, Fortes, Clarisse Pereira Dias Drumond, França Jr, Marcondes Cavalcante, Pereira, Jaqueline Almeida, Albuquerque, Marco Antonio Veloso de, Carvalho, Alzira Alves de Siqueira, Cavalcanti, Eduardo Boiteux Uchôa, Covaleski, Anna Paula Paranhos Miranda, Fagondes, Simone Chaves, Gurgel-Giannetti, Juliana, Gonçalves, Marcus Vinicius Magno, Martinez, Alberto Rolim Muro, Coimbra Neto, Antônio Rodrigues, Neves, Flavio Reis, Nucci, Anamarli, Nucera, Ana Paula Cassetta dos Santos, Pessoa, Andre Luis Santos, Rebel, Marcos Ferreira, Santos, Flavia Nardes dos, Scola, Rosana Herminia, Sobreira, Cláudia Ferreira da Rosa

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Alterações Eletrocardiográficas e do Sistema Nervoso Autônomo com a Mudança de Postura em Crianças e Adolescentes com Distrofia Muscular de Duchenne von Silva, Rose Mary Ferreira Lisboa da, Monteze, Nathalia Mussi, Giannetti, Juliana Gurgel, Meira, Zilda Maria Alves

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Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives von Araujo, Alexandra P. Q. C., Carvalho, Alzira A. S. de, Cavalcanti, Eduardo B. U., Saute, Jonas Alex M., Carvalho, Elmano, França, Marcondes C., Martinez, Alberto R. M., Navarro, Monica de M. M., Nucci, Anamarli, Resende, Maria Bernadete D. de, Gonçalves, Marcus Vinicius M., Gurgel-Giannetti, Juliana, Scola, Rosana H., Sobreira, Cláudia F. da R., Reed, Umbertina C., Zanoteli, Edmar

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Endoscopic Treatment of Interhemispheric Arachnoid Cysts von Giannetti, Alexandre Varella, Ferreira Fraga, Sílvia Maria, Silva, Márcia Cristina, Gurgel-Giannetti, Juliana

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Central core disease due to recessive mutations in RYR1 gene: Is it more common than described? von Kossugue, Patrícia M., Paim, Júlia F., Navarro, Monica M., Silva, Helga C., Pavanello, Rita C. M., Gurgel-Giannetti, Juliana, Zatz, Mayana, Vainzof, Mariz

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Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype von Gurgel‐Giannetti, Juliana, Senkevics, Adriano S., Zilbersztajn‐Gotlieb, Dinorah, Yamamoto, Lydia U., Muniz, Viviane P., Pavanello, Rita C.M., Oliveira, Acary B., ZATZ, Mayana, Vainzof, Mariz

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Sarcoglycanopathies: an update von Vainzof, Mariz, Souza, Lucas S., Gurgel-Giannetti, Juliana, Zatz, Mayana

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