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1
233rd ENMC International Workshop Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017
233rd ENMC International Workshop Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017
Material Type:
Artigo 		Adicionar ao Meu Espaço

233rd ENMC International Workshop Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017

William Lostal J. Andoni Urtizberea; Isabelle Richard; Alicia Alonso-Jiménez; Robert-Yves Carlier; Vincent Carson; Jordi Diaz-Manera; Bruno Eymard; Michel Fardeau; Marie-Laurence Gourlay; Michela Guglieri; Jean-Yves Hogrel; Bruno Kullmann; Jennifer Levy; Yasuko Ono; Hélène Prigent; Amets Saenz; Claudio Semplicini; Mariz Vainzof; John Vissing; Walter Maggie

Neuromuscular Disorders London v. 28, p. 540-549, 2018

London 2018

Item não circula. Consulte sua biblioteca.(Acessar)

2
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

N. M. Vieira Michel Naslavsky; L Licinio; F Kok; D Schlesinger; Mariz Vainzof; N Sanchez; J. P Kitajima; L Gal; N Cavacana; P. R Serafini; S Chuartzman; C Vasquez; A Mimbacas; V Nigro; R. C. M Pavanello; M Schuldiner; L. M Kunkel; Mayana Zatz; International World Muscle Society Congress (19. 2014 Berlin)

Neuromuscular Disorders Oxford (GB) v. 24, n. 9/10, p. 851, abstr. G.0.8, 2014

Oxford GB 2014

Acesso online. A biblioteca também possui exemplares impressos.

3
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

Debora Rapaport Maria Rita Passos-Bueno; Reinaldo Issao Takata; Simone Campiotto; Sabine Eggers; Mariz Vainzof; Adina Makover; Uri Nudel; David Yaffe; Mayana Zatz

Neuromuscular Disorders Oxford v. 2, n. 2, p. 117-120, 1992

Oxford 1992

Item não circula. Consulte sua biblioteca.(Acessar)

4
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

Debora Rapaport Maria Rita Passos-Bueno; Reinaldo Issao Takata; Simone Campiotto; Sabine Eggers; Mariz Vainzof; Adina Makover; Uri Nudel; David Yaffe; Mayana Zatz

Neuromuscular Disorders Oxford v. 2, n. 2, p. 117-120, 1992

Oxford 1992

Item não circula. Consulte sua biblioteca.(Acessar)

5
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Eloisa S. Moreira Mariz Vainzof; Suely Kazue Nagahashi Marie; Vicenzo Nigro; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics Londres v. 35, p. 951-953, 1998

Londres 1998

Item não circula. Consulte sua biblioteca.(Acessar)

6
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Eloisa S. Moreira Mariz Vainzof; Suely Kazue Nagahashi Marie; Vicenzo Nigro; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics Londres v. 35, p. 951-953, 1998

Londres 1998

Item não circula. Consulte sua biblioteca.(Acessar)

7
A normal life without muscle dystrophin
A normal life without muscle dystrophin
Material Type:
Artigo 		Adicionar ao Meu Espaço

A normal life without muscle dystrophin

Mayana Zatz N. M Vieira; E Zucconi; M Pelatti; Mariz Vainzof; A. B Martins-Bach; M. C. Garcia Otaduy; G. Bento dos Santos; E Amaro Jr.; V Landini; T Andrade

Neuromuscular Disorders London v. 25, n. 5, p. 371-374, 2015

London 2015

Localização: FM - Fac. Medicina    (BCSEP 271 2015 )(Acessar)

8
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (lgmd2a)
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (lgmd2a)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (lgmd2a)

M J Spencer J G Tidball; L V B Anderson; K M D Bushby; J B Harris; Maria Rita Passos-Bueno; H Somer; M Vainzof; M Zatz

Amsterdam v.146, p.173-8, 1997 Journal of the Neurological Sciences

Amsterdam 1997

Item não circula. Consulte sua biblioteca.(Acessar)

9
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (lgmd2a)
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (lgmd2a)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (lgmd2a)

M J Spencer J G Tidball; L V B Anderson; K M D Bushby; J B Harris; Maria Rita Passos-Bueno; H Somer; Mariz Vainzof; Mayana Zatz

Amsterdam v.146, p.173-8, 1997 Journal of the Neurological Sciences

Amsterdam 1997

Item não circula. Consulte sua biblioteca.(Acessar)

10
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

Denilce Ritsuko Sumita Mariz Vainzof; Simone Campiotto; Antonia M Cerqueira; Marta Canovas; Paulo A Otto; Maria Rita Passos-Bueno; Mayana Zatz

American Journal of Medical Genetics v. 80, p. 356-361, 1998

New York 1998

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Vainzof, M
  2. Zatz, M
  3. Passos-Bueno, M
  4. Pavanello, R
  5. Marie, S

Neste Assunto:

  1. Genética Médica
  2. Distrofia Muscular
  3. Mutação Genética
  4. Doenças Neuromusculares
  5. Doenças Genéticas

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

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