Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sidney Baptista Junior"'
Autor:
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
Publikováno v:
Surgical and Experimental Pathology, Vol 4, Iss 1, Pp 1-20 (2021)
Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscl
Externí odkaz:
https://doaj.org/article/a302beb7fac941bd967fef3772b25ed3
Autor:
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
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 75, Iss 11, Pp 789-795
ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic
Externí odkaz:
https://doaj.org/article/585b626dce6547dabe6ed0800e6a4dc9
Autor:
Eni Braga da Silveira, Julia Filardi Paim, Antonio Lopes da-Cunha-Junior, Bruno Arrivabene Cordeiro, Sidney Baptista Junior, Ana Cotta, Antonio Pedro Vargas, Monica M. Navarro, Alexandre Faleiros Cauhi, Maria Isabel Lima, Elmano Carvalho, Simone Vilela Nunes, Miriam Melo Menezes, Jaquelin Valicek, Rafael Xavier Neto
Publikováno v:
Surgical and Experimental Pathology, Vol 4, Iss 1, Pp 1-20 (2021)
Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83fb643650d54a517e9c6ec40675ca61
https://doaj.org/article/a302beb7fac941bd967fef3772b25ed3
https://doaj.org/article/a302beb7fac941bd967fef3772b25ed3
Autor:
Elmano Carvalho, Reinaldo Issao Takata, Ericka Viana Machado Carellos, Alessandra de-La-Rocque-Ferreira, AntonioLopes da-Cunha-Junior, Monica Machado Navarro, Julia Filardi Paim, Rita Horvath, Sidney Baptista-Junior, Maria Isabel Lima, Jaquelin Valicek, Ana Cotta, Eni Braga da Silveira
Publikováno v:
Neuromuscular disorders : NMD. 31(6)
Reversible infantile respiratory chain deficiency is a severe neonatal mitochondrial myopathy that resolves spontaneously. It is caused by the homoplasmic m.14674T>C mtDNA mutation and additional nuclear variants in genes interacting with mt-tRNAGlu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3984c9034d74a38c2cf647e220f8ffd2
https://pubmed.ncbi.nlm.nih.gov/33832841
https://pubmed.ncbi.nlm.nih.gov/33832841
Autor:
Luciano Romero Lima, Sidney Baptista Junior, Monica M. Navarro, Ana Cotta, Antonio Pedro Vargas, Jaquelin Valicek, Reinaldo Issao Takata, Antonio Lopes da-Cunha-Junior, Miriam Melo Menezes, Julia Filardi Paim, Rafael Xavier-Neto, Elmano Carvalho, Simone Vilela Nunes
Publikováno v:
Arquivos de Neuro-Psiquiatria v.75 n.11 2017
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 75, Iss 11, Pp 789-795
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 75, Iss 11, Pp 789-795
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8bb57085bdb7d2f6c133dd9dae6c89
https://doi.org/10.1590/0004-282x20170151
https://doi.org/10.1590/0004-282x20170151
Autor:
Antonio Lopes da-Cunha-Junior, Sidney Baptista-Junior, Charlotte L. Alston, Alessandra de la Rocque Ferreira, Elmano Carvalho, Germaine Pierre, Grainne S. Gorman, Jaquelin Valicek, Julia Filardi Paim, Reinaldo Issao Takata, Yi Shiau Ng, Marie Appleton, Monica M. Navarro, Maria Inês Salgueiro Lima, Robert McFarland, Robert W. Taylor, Iain P. Hargreaves, Ana Cotta
Publikováno v:
JIMD Reports
JIMD Reports, Vol 54, Iss 1, Pp 45-53 (2020)
JIMD Reports, Vol 54, Iss 1, Pp 45-53 (2020)
Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous subtype of mitochondrial disease. We report two girls with ataxia and mitochondrial respiratory chain deficiency who were shown to have primary CoQ10 deficiency. Muscle his
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3bcd079878a1f481517c8d45a4067f
Autor:
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
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 45-53 (2020)
Abstract Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous subtype of mitochondrial disease. We report two girls with ataxia and mitochondrial respiratory chain deficiency who were shown to have primary CoQ10 deficiency. M
Externí odkaz:
https://doaj.org/article/c03b086e0e84420b9b65b484900a0f01