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1
Mitochondrial cardioencephalomyopathy new SCO2 gene mutations in a Brazilian patiente
Mitochondrial cardioencephalomyopathy new SCO2 gene mutations in a Brazilian patiente
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Mitochondrial cardioencephalomyopathy new SCO2 gene mutations in a Brazilian patiente

Juliana Gurgel-Giannetti M T Lara; E L C Concentino; M C P Martins-Machado; L U Yamamoto; Poliana Onofre-Oliveira; Mariz Vainzof; International Congress on Neuromuscular Diseases (ICNMD) (29. 2010 Naples)

Acta Myologica Ospedaletto v. 29, p. 240, res. TW93, 2010

Ospedaletto 2010

Item não circula. Consulte sua biblioteca.(Acessar)

2
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy

Juliana Gurgel-Giannetti Marie Louise Bang; Umbertina Conti Reed; Suely Kazue Nagahashi Marie; Mayana Zatz; Siegfried Labeit; Mariz Vainzof

Muscle & Nerve v. 25, n. 5, p. 747-752, 2002

New York 2002

Item não circula. Consulte sua biblioteca.(Acessar)

3
Central core disease due to recessive mutations in RYR1 gene is it more common than described?
Central core disease due to recessive mutations in RYR1 gene is it more common than described?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Central core disease due to recessive mutations in RYR1 gene is it more common than described?

Patricia Mayumi Kossugue Julia F Paim; Monica M Navarro; Helga Cristina Almeida da Silva; Rita de Cássia M Pavanello; Juliana Gurgel-Giannetti; Mayana Zatz; Mariz Vainzof

Muscle & Nerve v. 35, n. 5, p. 670-674, 2007

Hoboken 2007

Item não circula. Consulte sua biblioteca.(Acessar)

4
Thomsen or Becker myotonia? a novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
Thomsen or Becker myotonia? a novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

Thomsen or Becker myotonia? a novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

Juliana Gurgel-Giannetti Adriano S Senkevics; Dinorah Zilbersztajn-Gotlieb; Lydia Uraco Yamamoto; Viviane P Muniz; Rita C M Pavanello; Acary B Oliveira; Mayana Zatz; Mariz Vainzof

Muscle & Nerve Hoboken v. 45, n. 2, p. 279-283, Feb. 2012

Hoboken 2012

Item não circula. Consulte sua biblioteca.(Acessar)

5
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy

Juliana Gurgel-Giannetti Marie Louise Bang; Umbertina Conti Reed; Suely Kazue Nagahashi Marie; Mayana Zatz; Siegfried Labeit; Mariz Vainzof

Muscle & Nerve v. 25, n. 5, p. 747-752, 2002

New York 2002

Item não circula. Consulte sua biblioteca.(Acessar)

6
Central core disease due to recessive mutations in RYR1 gene is it more common than described?
Central core disease due to recessive mutations in RYR1 gene is it more common than described?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Central core disease due to recessive mutations in RYR1 gene is it more common than described?

Patricia Mayumi Kossugue Julia F Paim; Monica M Navarro; Helga Cristina Almeida da Silva; Rita de Cássia M Pavanello; Juliana Gurgel-Giannetti; Mayana Zatz; Mariz Vainzof

Muscle & Nerve v. 35, n. 5, p. 670-674, 2007

Hoboken 2007

Item não circula. Consulte sua biblioteca.(Acessar)

7
Thomsen or Becker myotonia? a novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
Thomsen or Becker myotonia? a novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

Thomsen or Becker myotonia? a novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

Juliana Gurgel-Giannetti Adriano S Senkevics; Dinorah Zilbersztajn-Gotlieb; Lydia Uraco Yamamoto; Viviane P Muniz; Rita C M Pavanello; Acary B Oliveira; Mayana Zatz; Mariz Vainzof

Muscle & Nerve Hoboken v. 45, n. 2, p. 279-283, Feb. 2012

Hoboken 2012

Item não circula. Consulte sua biblioteca.(Acessar)

8
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

Leonardo Galleni Leão Lucas Santos Souza; Letícia Nogueira; Rita de Cássia Mingroni Pavanello; Juliana Gurgel-Giannetti; Umbertina C Reed; Acary S.B Oliveira; Thais Cuperman; Ana Cotta; Julia F Paim; Mayana Zatz; Mariz Vainzof

Acta Myologica Pisa v. 39, n. 4, p. 274–282, DEc. 2020

Pisa 2020

Item não circula. Consulte sua biblioteca.(Acessar)

9
Sarcoglycanopathies an update
Sarcoglycanopathies an update
Material Type:
Artigo 		Adicionar ao Meu Espaço

Sarcoglycanopathies an update

Mariz Vainzof Lucas S Souza; Juliana Gurgel-Giannetti; Mayana Zatz

Neuromuscular Disorders London

London 2021

Item não circula. Consulte sua biblioteca.(Acessar)

10
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient case report and literature review
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient case report and literature review
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient case report and literature review

Juliana Gurgel Giannetti Guilherme Oliveira; Geraldo Brasileiro Filho; Poliana Martins; Mariz Vainzof; Michio Hirano

JAMA Neurology Chicago v. 70, n. 2, p. 258-261, 2013

Chicago 2013

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Gurgel-Giannetti, J
  2. Vainzof, M
  3. Zatz, M
  4. Pavanello, R
  5. Oliveira, A

Neste Assunto:

  1. Mutação Genética
  2. Miopatias Congênitas Estruturais
  3. Fenótipos
  4. Doenças Genéticas
  5. Neurologia

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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