Transcriptional Regulation Differs in Affected Facioscapulohumeral Muscular Dystrophy Patients Compared to Asymptomatic Related Carriers von Arashiro, Patricia, Eisenberg, Iris, Kho, Alvin T., Cerqueira, Antonia M. P., Canovas, Marta, Silva, Helga C. A., Pavanello, Rita C. M., Verjovski-Almeida, Sergio, Kunkel, Louis M., Zatz, Mayana

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Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy von Fernandes, Stephanie A., Almeida, Camila F., Souza, Lucas S., Lazar, Monize, Onofre-Oliveira, Paula, Yamamoto, Guilherme L., Nogueira, Leticia, Tasaki, Leticia Y., Cardoso, Rafaela R., Pavanello, Rita C. M., Silva, Helga C. A., Ferrari, Merari F. R., Bigot, Anne, Mouly, Vincent, Vainzof, Mariz

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Complexity of the 5' Untranslated Region of EIF4A3 , a Critical Factor for Craniofacial and Neural Development von Hsia, Gabriella S P, Musso, Camila M, Alvizi, Lucas, Brito, Luciano A, Kobayashi, Gerson S, Pavanello, Rita C M, Zatz, Mayana, Gardham, Alice, Wakeling, Emma, Zechi-Ceide, Roseli M, Bertola, Debora, Passos-Bueno, Maria Rita

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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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Steroids in Duchenne dystrophy von Zatz, Mayana, Pavanello, Rita C.M

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Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers von Wyatt, Eugene J, Demonbreun, Alexis R, Kim, Ellis Y, Puckelwartz, Megan J, Vo, Andy H, Dellefave-Castillo, Lisa M, Gao, Quan Q, Vainzof, Mariz, Pavanello, Rita C M, Zatz, Mayana, McNally, Elizabeth M

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Central core myopathy with autophagy von Cotta, Ana, Paim, Julia F., Pavanello, Rita De C. M., Nogueira, Leticia, Leão, Leonardo G., Xavier‐Neto, Rafael, Navarro, Monica M., Carvalho, Elmano, Valicek, Jaquelin, Silveira, Eni B., Takata, Reinaldo I., Vainzof, Mariz

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Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report von Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila C V, Yamamoto, Lydia U, Silva, Helga C A, Pavanello, Rita C M, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary S B, Vainzof, Mariz

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Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita von Muniz, Viviane P., Senkevics, Adriano S., Zilbersztajn, Dinorah, Gurgel-Giannetti, Juliana, Silva, Helga C., Yamamoto, Lydia U., Pavanello, Rita C.M., Pearson, Peter L., Zatz, Mayana, Vainzof, Mariz

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Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy von TONINI, Maria Manuela O, LEMMERS, Richard J. L. F, PAVANELLO, Rita C. M, CERQUEIRA, Antonia M. P, FRANTS, Rune R, VAN DER MAAREL, Silvere M, ZATZ, Mayana

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Dysferlin protein analysis in limb-girdle muscular dystrophies von Vainzof, M, Anderson, L V, McNally, E M, Davis, D B, Faulkner, G, Valle, G, Moreira, E S, Pavanello, R C, Passos-Bueno, M R, Zatz, M

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Central core myopathy with autophagy: Central Core With Autophagy von Cotta, Ana, Paim, Julia F., Pavanello, Rita De C. M., Nogueira, Leticia, Leão, Leonardo G., Xavier-Neto, Rafael, Navarro, Monica M., Carvalho, Elmano, Valicek, Jaquelin, Silveira, Eni B., Takata, Reinaldo I., Vainzof, Mariz

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Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients von Oliveira, Jorge, Gonçalves, Ana, Oliveira, Márcia E., Fineza, Isabel, Pavanello, Rita C.M., Vainzof, Mariz, Bronze-da-Rocha, Elsa, Santos, Rosário, Sousa, Mário

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Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E) von Bönnemann, Carsten G., Passos-Bueno, M. Rita, McNally, Elizabeth M., Vainzof, Mariz, Moreira, Eloísa de Sá, Marie, Suely K., Pavanello, Rita C. M., Noguchi, Satoru, Ozawa, Eijiro, Zatz, Mayana, Kunkel, Louis M.

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Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 IT pathogenic mutation in central core disease: a case report von Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila CV, Yamamoto, Lydia U, Silva, Helga CA, Pavanello, Rita CM, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary SB, Vainzof, Mariz

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Protein and DNA Analysis for the Prenatal Diagnosis of α2-Laminin–Deficient Congenital Muscular Dystrophy von Yamamoto, Lydia U, Gollop, Thomas R, Naccache, Nadyr F, Pavanello, Rita C. M, Zanoteli, Edmar, Zatz, Mayana, Vainzof, Mariz

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Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy von Yamamoto, Lydia U, Gollop, Thomas R, Naccache, Nadyr F, Pavanello, Rita C M, Zanoteli, Edmar, Zatz, Mayana, Vainzof, Mariz

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Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies von Vainzof, Mariz, Pavanello, Rita C. M., Pavanello-Filho, Ivo, Rapaport, Debora, Passos-Bueno, Maria Rita, Zubrzycka-Gaarn, Elizabeth E., Bulman, Dennis E., Zatz, Mayana

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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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