Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Simone Vilela Nunes"'
Autor:
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Eni Braga da Silveira, Bruno Arrivabene Cordeiro, Maria Isabel Lima, Monica Machado Navarro, Frederico Godinho, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Alexandre Faleiros Cauhi, Julia Filardi Paim, Mariz Vainzof
Publikováno v:
Surgical and Experimental Pathology, Vol 7, Iss 1, Pp 1-35 (2024)
Abstract Background Telethoninopathy or TCAP-gene related Limb Girdle Muscular Dystrophy is a rare genetic disease that was first described in Brazil. There are around 100 families reported worldwide. Due to its rarity, detailed information on muscle
Externí odkaz:
https://doaj.org/article/39faa53128a7410ba66a4095496343f4
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, 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
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 72, Iss 9, Pp 721-734 (2014)
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://doaj.org/article/105d814bef7440b183a6a1df391a653c
Autor:
Edson Marcio Negrão, Ivar Viana Brandi, Simone Vilela Nunes, Daniel Gurgel Fernandes Távora, Mauro Nakayama, Paulo Sergio Siebra Beraldo
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 88, Iss 5, Pp 514-520 (2007)
OBJETIVOS: Determinar se há evidências de uma relação causal entre forame oval patente (FOP) e acidente vascular cerebral isquêmico (AVCI) criptogênico em jovens. Analisar essa relação à luz dos critérios de causalidade. MÉTODOS: Avaliaram
Externí odkaz:
https://doaj.org/article/879e451a4f254207a272ea977e3b8ad8
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
Publikováno v:
Arquivos de Neuro-Psiquiatria
ABSTRACT Background: Motor functional neurological disorder (mFND) is a common and disabling condition. There are no evidence-based guidelines for treatment. Long-term outcome is often poor. This study describes the epidemiological profile, symptom p
Externí odkaz:
https://doaj.org/article/00b879b4fa524facbdd69eb0704cc668
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
Akademický článek
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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
Publikováno v:
Arquivos de Neuro-Psiquiatria, Issue: ahead, Published: 05 JUN 2020
Arquivos de Neuro-Psiquiatria, Volume: 78, Issue: 6, Pages: 331-336, Published: 05 JUN 2020
Arquivos de Neuro-Psiquiatria v.78 n.6 2020
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria
Arquivos de Neuro-Psiquiatria, Volume: 78, Issue: 6, Pages: 331-336, Published: 05 JUN 2020
Arquivos de Neuro-Psiquiatria v.78 n.6 2020
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria
Background: Motor functional neurological disorder (mFND) is a common and disabling condition. There are no evidence-based guidelines for treatment. Long-term outcome is often poor. This study describes the epidemiological profile, symptom pattern an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac13293700ae89cea61ce346e1b781c
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020005012101&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020005012101&lng=en&tlng=en