Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

by Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas
Published 2014-09-01

The relative frequency of common neuromuscular diagnoses in a reference center

by Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista Junior, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas

Muscle biopsy essential diagnostic advice for pathologists

by Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Jaquelin Valicek, Monica M. Navarro, Sidney Baptista Junior, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes, Antonio Pedro Vargas, Rafael Xavier Neto, Julia Filardi Paim
Published 2021-01-01

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

by Ana Cotta, Charlotte L. Alston, Sidney Baptista‐Junior, Julia F. Paim, Elmano Carvalho, Monica M. Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L. da‐Cunha‐Junior, Maria I. Lima, Alessandra de laRocque Ferreira, Reinaldo I. Takata, Iain P. Hargreaves, Gráinne S. Gorman, Robert McFarland, Germaine Pierre, Robert W. Taylor
Published 2020-07-01