Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Rafael Xavier-Neto"'
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Akademický článek
The relative frequency of common neuromuscular diagnoses in a reference center
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
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2
Akademický článek
Muscle biopsy essential diagnostic advice for pathologists
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
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3
Muscle biopsy essential diagnostic advice for pathologists
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
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4
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms
Autor: Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, Mariz Vainzof
Publikováno v: Genes; Volume 13; Issue 5; Pages: 760
Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mil
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3483796040632d014a98dddc0f748924
https://pubmed.ncbi.nlm.nih.gov/35627144
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5
The relative frequency of common neuromuscular diagnoses in a reference center
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
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
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6
Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers
Autor: Ana Cotta, Antonio Lopes da-Cunha-Junior, Cynthia Costa-E-Silva, Rafael Xavier-Neto, Reinaldo Issao Takata, Antonio Pedro Vargas, Elmano Carvalho, Monica Machado Navarro, Simone Vilela Nunes, Jaquelin Valicek, Julia Filardi Paim, Eni Braga da Silveira, Miriam Melo Menezes
Publikováno v: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 44(3)
Background: Dystrophinopathies are X-linked muscular dystrophies characterized by pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers may present with limb-girdle weakness. The diagnosis may be challenging in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a5b7d3e3aee281aa6506f909dc12ec
https://pubmed.ncbi.nlm.nih.gov/28181471
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7
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Autor: Antonio Lopes da-Cunha-Junior, Julia Filardi Paim, Antonio Pedro Vargas, Elmano Carvalho, Simone Vilela Nunes, Monica M. Navarro, Miriam Melo Menezes, Jaquelin Valicek, Reinaldo Issao Takata, Rafael Xavier Neto, Ana Cotta
Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 72, Iss 9, Pp 721-734 (2014)
Arquivos de Neuro-Psiquiatria v.72 n.9 2014
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Det
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd84b076d9783fb931b1a3d2b85eb58
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000900721&lng=en&tlng=en
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10
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
Autor: Ana Cotta, L.U. Yamamoto, Camila F. Almeida, Reinaldo Issao Takata, Antonio Lopes da-Cunha-Junior, Jaquelin Valicek, Julia Filardi Paim, Monica M. Navarro, Shelida Vasconcelos Braz, Rafael Xavier Neto, Elmano Carvalho, Simone Vilela Nunes, Mariz Vainzof
Publikováno v: BMC Clinical Pathology
Background Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208980ad9f1fa83dea6401654f640884
https://doi.org/10.1186/1472-6890-14-41
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