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1
Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype
Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype
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Conference Paper 		Add to e-Shelf

Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype

O. Abath Neto E Estephan; C. A Martins; U. C Reed; A. S. B Oliveira; J Laporte; E Zanoteli; Congresso Brasileiro de Neurologia (26. 2014 Curitiba, PR)

Arquivos de Neuro-Psiquiatria São Paulo v. 72, supl. 2, p. 96, res. P-229, 2014

São Paulo 2014

Available at FM - Fac. Medicina    (BCBIB )(GetIt)

2
Atypical phenotype in a case of MYH7 congenital myopathy
Atypical phenotype in a case of MYH7 congenital myopathy
Material Type:
Conference Paper 		Add to e-Shelf

Atypical phenotype in a case of MYH7 congenital myopathy

O. L. Abath Neto C. A Martins; U. C Reed; C Bonnemann; J Laporte; E Zanoteli; Congresso Brasileiro de Neurologia (26. 2014 Curitiba, PR)

Arquivos de Neuro-Psiquiatria São Paulo v. 72, supl. 2, p. 45, res. V-002, 2014

São Paulo 2014

Available at FM - Fac. Medicina    (BCBIB )(GetIt)

3
Clinical aspects of patients with sarcoglycanopathies under steroids therapy
Clinical aspects of patients with sarcoglycanopathies under steroids therapy
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Article 		Add to e-Shelf

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Marco A. V. Albuquerque Osório Abath-Neto; Jéssica R Maximino; Gerson Chadi; Edmar Zanoteli; Umbertina C Reed

Arquivos de neuro-psiquiatria São Paulo v. 72, n. 10, p. 768-772, 2014

São Paulo 2014

Available at FM - Fac. Medicina    (BCBIB )(GetIt)

4
Wilson's disease in Southern Brazil genotype-phenotype correlation and description of two novel mutations in ATP7B gene
Wilson's disease in Southern Brazil genotype-phenotype correlation and description of two novel mutations in ATP7B gene
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Article 		Add to e-Shelf

Wilson's disease in Southern Brazil genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Ricardo Schmitt de Bem Salmo Raskin; Dominique Araujo Muzzillo; Marta Mitiko Deguti; Eduardo Luiz Rachid Cancado; Thiago Ferreira Araujo; Maria Cristina Nakhle; Egberto Reis Barbosa; Renato Puppi Munhoz; Helio Afonso Ghizoni Teive

Arquivos de neuro-psiquiatria São Paulo v. 71, n. 8, p. 503-507, 2013

São Paulo 2013

Available at FM - Fac. Medicina    (BCBIB )(GetIt)

5
Case report: Creutzfeldt-Jakob disease associated to two-octarepeat insertion in PRNP gene
Case report: Creutzfeldt-Jakob disease associated to two-octarepeat insertion in PRNP gene
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Conference Paper 		Add to e-Shelf

Case report: Creutzfeldt-Jakob disease associated to two-octarepeat insertion in PRNP gene

L. F. Berchielli M. C Landemberger; A. F. P Pouza; L. P Ferreira; S. C. B Casagrande; A. L Rezende; A. C. P Melo; S Rosemberg; V. R Martins; Congresso Brasileiro de Neurologia (26. 2014 Curitiba, PR)

Arquivos de Neuro-Psiquiatria São Paulo v. 72, supl. 2, p. 206, res. P-810, 2014

São Paulo 2014

Available at FM - Fac. Medicina    (BCBIB )(GetIt)

6
Miosite Eosinofílica Idiopática: Estágio Inicial de Distrofia de Cinturas Por Deficiência de Calpaína? Relato de Um Caso
Miosite Eosinofílica Idiopática: Estágio Inicial de Distrofia de Cinturas Por Deficiência de Calpaína? Relato de Um Caso
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Conference Paper 		Add to e-Shelf

Miosite Eosinofílica Idiopática: Estágio Inicial de Distrofia de Cinturas Por Deficiência de Calpaína? Relato de Um Caso

F. Borlot Suely Kazue Nagahashi Marie; M. B. D Resende; R. S. C Alves; M. S Carvalho; M. D. C Peduto; Umbertina Conti Reed; Congresso Brasileiro de Neurologia (23. 2008 Belém, PA)

Arquivos de Neuro-Psiquiatria São Paulo v. 66, supl. 2, p. 135, res. P-446, Agosto, 2008

São Paulo 2008

Available at FM - Fac. Medicina    (FM BCBIB ) and other locations(GetIt)

7
Clinical features and management of hereditary spastic paraplegia
Clinical features and management of hereditary spastic paraplegia
Material Type:
Article 		Add to e-Shelf

Clinical features and management of hereditary spastic paraplegia

Faber, Ingrid ; Servelhere, Katiane R ; Martinez, Alberto R M ; D'Abreu, Anelyssa ; Lopes-Cendes, Iscia ; França, Jr, Marcondes C

Arquivos de neuro-psiquiatria, 2014-03, Vol.72 (3), p.219-226 [Peer Reviewed Journal]

Brazil: Academia Brasileira de Neurologia - ABNEURO

Full text available

Citations Cited by
8
Homozugotic intronic GAA mutation in three siblings with late-onset Pompe's disease
Homozugotic intronic GAA mutation in three siblings with late-onset Pompe's disease
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Homozugotic intronic GAA mutation in three siblings with late-onset Pompe's disease

Anderson Kuntz Grzesiuk Sueli Mieko Oba Shinjo; Roseli da Silva; Marcelo Machado; Marcial Francis Galera; Suely Kazue Nagahashi Marie

Arquivos de neuro-psiquiatria São Paulo v. 68, n. 2, p. 194-197, 2010

São Paulo 2010

Available at FM - Fac. Medicina    (BCBIB )(GetIt)

9
Homozugotic intronic GAA mutation in three siblings with late-onset Pompe's disease
Homozugotic intronic GAA mutation in three siblings with late-onset Pompe's disease
Material Type:
Article 		Add to e-Shelf

Homozugotic intronic GAA mutation in three siblings with late-onset Pompe's disease

Anderson Kuntz Grzesiuk Sueli Mieko Oba Shinjo; Roseli da Silva; Marcelo Machado; Marcial Francis Galera; Suely Kazue Nagahashi Marie

Arquivos de neuro-psiquiatria São Paulo v. 68, n. 2, p. 194-197, 2010

São Paulo 2010

Available at FM - Fac. Medicina    (BCBIB )(GetIt)

10
Estudo da expressão da proteína caveolina-3 (CAV-3) em biópsias musculares
Estudo da expressão da proteína caveolina-3 (CAV-3) em biópsias musculares
Material Type:
Conference Paper 		Add to e-Shelf

Estudo da expressão da proteína caveolina-3 (CAV-3) em biópsias musculares

C. B. Lemos Umbertina Conti Reed; Suely Kazue Nagahashi Marie; M. S Carvalho; A Wakamatsu; Congresso Brasileiro de Neurologia (22. 2006 Recife); Encontro Luso-Brasileiro de Neurologia (6. 2006 Recife); Congresso da Federação Latino-Americana de Neurologia - NEUROSUR (2. 2006 Recife)

Arquivos de Neuro-Psiquiatria São Paulo v. 64, supl. 1, p. 139, res. P-461, agosto, 2006

São Paulo 2006

Available at FM - Fac. Medicina    (FM BCBIB ) and other locations(GetIt)

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  1. Congresso Brasileiro de Neurologia
  2. Reed, U
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  5. Abath Neto, O

on this subject:

  1. Mutação Genética
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  4. Distrofia Muscular
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