Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Julia Filardi Paim"'
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, Renato Cesar Rezende de Castro, Julia Filardi Paim, Leonardo Sardenberg Fiuza, Maria Henriqueta Freire Lyra
Publikováno v:
Revista Brasileira de Ortopedia, Vol 54, Iss 2, Pp 210-213
Abstract Osteoid osteoma is a benign bone tumor that frequently occurs between the ages of 10 and 25 years old; in about 80% of the patients, it is associated with intense pain. The present article describes the case of an 11-month-old infant with cl
Externí odkaz:
https://doaj.org/article/11cde617d9f64d8d94e2b4d584ca5cae
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:
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
https://pubmed.ncbi.nlm.nih.gov/35627144
Autor:
Maria Henriqueta Freire Lyra, Ana Cotta, Renato Cesar Rezende de Castro, Leonardo Sardenberg Fiuza, Julia Filardi Paim
Publikováno v:
Revista Brasileira de Ortopedia. 54:210-213
ResumoOsteoma osteoide é um tumor ósseo benigno, mais frequente dos 10 aos 25 anos de idade e, em cerca de 80% dos pacientes, está associado a dor forte. O presente artigo descreve um paciente masculino apresentando claudicação, encurtamento do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a49ebaa8edb7472831f8f28e073c012
https://doi.org/10.1016/j.rboe.2017.11.001
https://doi.org/10.1016/j.rboe.2017.11.001
Autor:
Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara
Publikováno v:
The EMBO Journal
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6‐months of age. RIRCD is associated with the homoplasmic m.14674T>C m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45d
http://europepmc.org/articles/PMC7705457
http://europepmc.org/articles/PMC7705457
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:
Maria Isabel Lima, Jaquelin Valicek, Mariko Okubo, Ana Cotta, Aritoshi Iida, Roberto Velloso-Filho, Ichizo Nishino, Antonio Lopes da-Cunha-Junior, Reinaldo Issao Takata, Michio Inoue, Miriam Melo Menezes, Monica M. Navarro, Julia Filardi Paim, Elmano Carvalho, Maria Henriqueta Freire-Lyra
Publikováno v:
Journal of the Neurological Sciences
Journal of the Neurological Sciences, 2020, 415, pp.116977. ⟨10.1016/j.jns.2020.116977⟩
Journal of the Neurological Sciences, 2020, 415, pp.116977. ⟨10.1016/j.jns.2020.116977⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3160b2f068827d135e18c476130a0a0d
https://hal.science/hal-03842252
https://hal.science/hal-03842252
Autor:
Michele Giunta, Hanns Lochmueller, Monica Machado Navarro, Denisa Hathazi, Sarah F Pearce, Serenella Servidei, Michal Minczuk, Manta Giri, Christopher A. Powell, Vamsi K. Mootha, Juliane S Mueller, Claudia Calabrese, Benjamin Munro, Rita Horvath, Veronika Boczonadi, Matthew J. Jennings, Ana Cotta, Andreas Roos, Eric P Hoffmann, Angela Pyle, Michael G. Hanna, Mar Tulinius, Michio Hirano, Wei Wei, Joanna Poulton, Kristine Chapman, Julia Filardi Paim, Robert D S Pitceathly, Helen Griffin, Andre Mattmann, Aurora Gomez-Duran, Johanna Uusima, Ulrike Schara, Kairit Joost, Jennifer Duff, Salvatore DiMauro, Patrick F. Chinnery
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df47fd8ee77de56e35ac6c2738539029