Phenotypic and immunohistochemical characterization of sarcoglycanopathies von Ferreira, Ana F.B., Carvalho, Mary S., Resende, Maria Bernadete D., Wakamatsu, Alda, Reed, Umbertina Conti, Marie, Suely Kazue Nagahashi

Volltext

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure von Silva, André M.S, Mendonça, Rodrigo H, Soares, Diogo C, Callegaro, Dagoberto, Caldas, Vitor M, Perissinotti, Iago N, Carvalho, Mary S, Zanoteli, Edmar

Volltext

Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy von Silva, André M.S, Mendonça, Rodrigo H, Moreno, Cristiane A.M, Estephan, Eduardo P, Helito, Paulo V.P, Carvalho, Mary S, Zanoteli, Edmar

Volltext

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations von Oba-Shinjo, Sueli M., da Silva, Roseli, Andrade, Fernanda G., Palmer, Rachel E., Pomponio, Robert J., Ciociola, Kristina M., S. Carvalho, Mary, Gutierrez, Paulo S., Porta, Gilda, Marrone, Carlo D., Munoz, Verônica, Grzesiuk, Anderson K., Llerena, Juan C., Berditchevsky, Célia R., Sobreira, Claudia, Horovitz, Dafne, Hatem, Thamine P., Frota, Elizabeth R. C., Pecchini, Rogerio, Kouyoumdjian, João Aris, Werneck, Lineu, Amado, Veronica M., Camelo, José S., Mattaliano, Robert J., Marie, Suely K. N.

Volltext

Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation von Reed, Umbertina C, Tsanaclis, Ana Maria C, Vainzof, Mariz, Marie, Suely K, Carvalho, Mary S, Roizenblatt, Jaime, Pedreira, Christiane C, Diament, Aron, Levy, José Antonio

Volltext

Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI von Leite, Claudia C, Lucato, Leandro T, Martin, Maria G M, Ferreira, Lucio G, Resende, Maria B D, Carvalho, Mary S, Marie, Suely K N, Jinkins, J Randy, Reed, Umbertina C

Volltext

Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia von Marie, S K, Carvalho, A A, Fonseca, L F, Carvalho, M S, Reed, U C, Scaff, M

Volltext

Heterogeneity of Classic Congenital Muscular Dystrophy With Involvement of the Central Nervous System: Report of Five Atypical Cases von Reed, Umbertina C., Nagahashi Marie, Suely K., Vainzof, Mariz, Gobbo, Lucio F., Gurgel, Juliana E.P., Carvalho, Mary S., Resende, Maria Bernadete D., Espíndola, Adriana A., Zatz, Mayana, Diament, Aron

Volltext

The Brazilian Consensus on the Management of Pompe Disease von Llerena, Juan C., MD, PhD, Horovitz, Dafne Maria, MD, PhD, Nagahashi Marie, Suely Kazue, PhD, Porta, Gilda, MD, PhD, Giugliani, Roberto, MD, PhD, Muñoz Rojas, Maria Verónica, MD, Martins, Ana Maria, MD, PhD

Volltext

Mitochondrial dysfunction in myasthenia gravis. Report of a case von Marchiori, P E, Levy, J A, Carvalho-Alegro, M S, Lusvarghi, E S, Tsanaclis, A M, De Assis, J L, Scaff, M

Volltext

Teste de esforço cardioplumonar na avaliação de doenças musculares von SILVA, HELGA C. ALMEIDA, LEITE, JOÃO J., CARVALHO, MARY S., SALUM, PAULO N.B., VARGAS, FRANCISCO S., LEVY, JOSÉ A.

Volltext

Congenital structural myopathies: Clinical and pathologic review of 13 patients von Reed, Umbertina C., Marie, Suely K.N., Carvalho, Mary S., Delgado, Martha S., Diament, Aron, Levy, JoséA.

Volltext

Registro brasileiro de biológicos: processo de implementação e resultados preliminares do BiobadaBrasil Brazilian biologic registry: BiobadaBrasil implementation process and prelim... von David C Titton, Ines Guimarães Silveira, Paulo Louzada-Junior, Andre L Hayata, Hellen Mary S Carvalho, Roberto Ranza, Lucila S Rezende, Geraldo Castelar Pinheiro, Jair Licio F Santos, Jose Roberto Miranda, Jozelio Freitas Carvalho, Manoel Barros Bertolo, Marlene Freire, Morton A Scheinberg, Thelma L Skare, Vander Fernandes, Washington Bianchi, Ieda Maria M Laurindo

Volltext

Miopatia nemalínica com corpos intracitoplasmáticos esferúides: relato de caso von Azevedo, Helga C. A., Carvalho, Mary S., Nagahashi -Marie, Sueli K., Delgado, Martha N. S., Siqueira-Carvalho, Alzira A., Salum, Paulo N. B., Levy, José A.

Volltext

Miopatia nemalínica com corpos intracitoplasmáticos esferúides: relato de caso Nemalinic myopathy with intracytoplasmic spheroid bodies: case report von Helga C. A. Azevedo, Mary S. Carvalho, Sueli K. Nagahashi -Marie, Martha N. S. Delgado, Alzira A. Siqueira-Carvalho, Paulo N. B. Salum, José A. Levy

Volltext

Miotonia congênita: relato de sete pacientes Congenital myotonia: report of seven patients von Helga C. A. Azevedo, Lúcia I. Z. Mendonça, Paulo N. B. Salum, Mary S. Carvalho, Sueli K. Nagahashi-Marie, Alzira A. Siqueira-Carvalho, Maria A. Cerqueira, Umbertina C. Reed, José A. Levy

Volltext

Miotonia congênita: relato de sete pacientes von Azevedo, Helga C. A., Mendonça, Lúcia I. Z., Salum, Paulo N. B., Carvalho, Mary S., Nagahashi-Marie, Sueli K., Siqueira-Carvalho, Alzira A., Cerqueira, Maria A., Reed, Umbertina C., Levy, José A.

Volltext

Congenital muscular dystrophy in two siblings with cataracts and slight cerebral involvement von Reed, Umbertina C., Marie, Suely K.N., Tsanaclis, Ana M.C.B., Carvalho, Mary S., Roizenblatt, Jayme, Pedreira, Christiane C., Diament, Aron, Levy, JoséA.

Volltext

Registro brasileiro de biológicos: processo de implementação e resultados preliminares do BiobadaBrasil von Titton, David C, Silveira, Ines Guimarães, Louzada-Junior, Paulo, Hayata, Andre L, Carvalho, Hellen Mary S, Ranza, Roberto, Rezende, Lucila S, Pinheiro, Geraldo Castelar, Santos, Jair Licio F, Miranda, Jose Roberto, Carvalho, Jozelio Freitas, Bertolo, Manoel Barros, Freire, Marlene, Scheinberg, Morton A, Skare, Thelma L, Fernandes, Vander, Bianchi, Washington, Laurindo, Ieda Maria M

Volltext

Teste de esforço cardioplumonar na avaliação de doenças musculares von SILVA, HELGA C. ALMEIDA, LEITE, JOÃO J., CARVALHO, MARY S., SALUM, PAULO N.B., VARGAS, FRANCISCO S., LEVY, JOSÉ A.

Volltext