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Juliana Gurgel-Giannetti

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Physiology

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Juliana Gurgel-Giannetti; Poliana Martins; Guilherme Oliveira; Mariz Vainzof; Geraldo Brasileiro-Filho; Michio Hirano
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.
Juliana Gurgel-Giannetti; João Bosco Pesquero; Umbertina Conti Reed; Edmar Zanoteli; Osorio Abath Neto; Eralda Luiza de Castro Concentino; Mariz Vainzof
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
Juliana Gurgel-Giannetti; Michio Hirano; Sarah Teixeira Camargos; Francisco Cardoso; Salvatore DiMauro
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.

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2013: Juliana Gurgel-Giannetti; Poliana Martins; Guilherme Oliveira; Mariz Vainzof; Geraldo Brasileiro-Filho; Michio Hirano
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.
JAMA neurology 2013;70(2):258-61.
2012: Juliana Gurgel-Giannetti; João Bosco Pesquero; Umbertina Conti Reed; Edmar Zanoteli; Osorio Abath Neto; Eralda Luiza de Castro Concentino; Mariz Vainzof
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
Neuromuscular disorders : NMD 2012;22(6):541-5.
2012: Juliana Gurgel-Giannetti; Michio Hirano; Sarah Teixeira Camargos; Francisco Cardoso; Salvatore DiMauro
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.
Muscle & nerve 2012;45(3):453-4.
2012: Juliana Gurgel-Giannetti; Viviane P Muniz; Acary B Oliveira; Rita C M Pavanello; Adriano S Senkevics; Lydia U Yamamoto; Mayana Zatz; Dinorah Zilbersztajn-Gotlieb; Mariz Vainzof
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Muscle & nerve 2012;45(2):279-83.
2012: Leonardo P Capelli; Juliana Gurgel-Giannetti; Célia P Koiffmann; Ana C V Krepischi; Mirian Fabiola S Mendes; Tatiane Rodrigues; Monica C Varela; Carla Rosenberg
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.
European journal of medical genetics 2012;55(2):132-4.
2012: Alexandre Varella Giannetti; Márcia Cristina Silva; Sílvia Maria Ferreira Fraga; Juliana Gurgel-Giannetti
Endoscopic treatment of interhemispheric arachnoid cysts.
Pediatric neurosurgery 2012;48(3):157-62.
2011: Sarah Teixeira Camargos; Juliana Gurgel-Giannetti; John Hardy; Andrew J Lees; Andrew Singleton; Francisco Cardoso
Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI.
Journal of neurology, neurosurgery, and psychiatry 2011;82(9):1059-60.
2011: Cláudia Machado Siqueira; Juliana Gurgel-Giannetti
[Poor school performance: an updated review].
Revista da Associação Médica Brasileira (1992) 2011;57(1):78-87.
2010: Viviane P Muniz; Adriano S Senkevics; Dinorah Zilbersztajn; Juliana Gurgel-Giannetti; Helga C A Silva; Lydia U Yamamoto; Rita C M Pavanello; Peter L Pearson; Mayana Zatz; Mariz Vainzof
Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita.
Muscle & nerve 2010;41(3):427-8.
2007: Marly Conceição Silva; Zilda Maria Alves Meira; Juliana Gurgel-Giannetti; Marcelo Moreira da Silva; Alysson Félix Oliveira Campos; Márcia de Melo Barbosa; Geraldo Moll Starling Filho; Rogério de Aguiar Ferreira; Mayana Zatz; Carlos E Rochitte
Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy.
Journal of the American College of Cardiology 2007;49(18):1874-9.
2007: Patrícia M Kossugue; Julia F O Paim; Monica M Navarro; Helga C A Silva; Rita C M Pavanello; Juliana Gurgel-Giannetti; Mayana Zatz; Mariz Vainzof
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Muscle & nerve 2007;35(5):670-4.
2006: Maryam Oskoui; Guido Davidzon; Juan Pascual; Ricardo Erazo; Juliana Gurgel-Giannetti; Sindu Krishna; Eduardo Bonilla; Darryl C De Vivo; Sara Shanske; Salvatore DiMauro
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Archives of neurology 2006;63(8):1122-6.
2005: Salvatore DiMauro; Juliana Gurgel-Giannetti
The expanding phenotype of mitochondrial myopathy.
Current opinion in neurology 2005;18(5):538-42.
2004: Maria Manuela O Tonini; Rita C M Pavanello; Juliana Gurgel-Giannetti; Richard Lemmers; Silvère M van der Maarel; Rune R Frants; Mayana Zatz
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.
Journal of medical genetics 2004;41(2):e17.
2003: Juliana Gurgel-Giannetti; Umbertina Conti Reed; Suely K N Marie; Edmar Zanoteli; Moacir A T Fireman; Acary S B Oliveira; Lineu César Werneck; Alan H Beggs; Mayana Zatz; Mariz Vainzof
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.
Journal of child neurology 2003;18(3):235-40.
2002: Juliana Gurgel-Giannetti; Marie-Louise Bang; Umbertina Conti Reed; Suely K N Marie; Mayana Zatz; Siegfried Labeit; Mariz Vainzof
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
Muscle & nerve 2002;25(5):747-52.
2001: Juliana Gurgel-Giannetti; Umbertina Conti Reed; Marie-Louise Bang; Katarina Pelin; Kristian Donner; Suely K N Marie; M Carvalho; Moacir A T Fireman; Edmar Zanoteli; Acary S B Oliveira; Mayana Zatz; Carina Wallgren-Pettersson; Siegfried Labeit; Mariz Vainzof
Nebulin expression in patients with nemaline myopathy.
Neuromuscular disorders : NMD 2001;11(2):154-62.