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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan geneNigro, V ; de Sá Moreira, E ; Piluso, G ; Vainzof, M ; Belsito, A ; Politano, L ; Puca, A A ; Passos-Bueno, M R ; Zatz, MNature genetics, 1996-10, Vol.14 (2), p.195-198 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Protein defects in neuromuscular diseasesVainzof, M ; Zatz, MBrazilian journal of medical and biological research, 2003-05, Vol.36 (5), p.543-555 [Periódico revisado por pares]Brazil: Associação Brasileira de Divulgação CientíficaTexto completo disponível |
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Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutationsMoreira, E S ; Vainzof, M ; Suzuki, O T ; Pavanello, R C M ; Zatz, M ; Passos-Bueno, M RJournal of medical genetics, 2003-02, Vol.40 (2), p.e12-12 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular DystrophiesVainzof, M. ; Passos-Bueno, M. R. ; Canovas, M. ; Moreira, E. S. ; Pavanello, R. C. M. ; Marie, S. K. ; Anderson, L. V. B. ; Bonnemann, C. G. ; McNally, E. M. ; Nigro, V. ; Kunkel, L. M. ; Zatz, M.Human molecular genetics, 1996-12, Vol.5 (12), p.1963-1969 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutationMCNALLY, E. M ; PASSOS-BUENO, M. R ; KUNKEL, L. M ; BÖNNEMANN, C. G ; VAINZOF, M ; DE SA MOREIRA, E ; LIDOV, H. G. W ; OTHMANE, K. B ; DENTON, P. H ; VANCE, J. M ; ZATZ, MAmerican journal of human genetics, 1996-11, Vol.59 (5), p.1040-1047 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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Material Type: Artigo
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Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR LGMDPassos-Bueno, M. R. ; Moreira, E. S. ; Vainzof, M. ; Marie, S. K. ; Zatz, M.Human molecular genetics, 1996-06, Vol.5 (6), p.815-820 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Dysferlin protein analysis in limb-girdle muscular dystrophiesVainzof, M ; Anderson, L V ; McNally, E M ; Davis, D B ; Faulkner, G ; Valle, G ; Moreira, E S ; Pavanello, R C ; Passos-Bueno, M R ; Zatz, MJournal of molecular neuroscience, 2001-08, Vol.17 (1), p.71-80 [Periódico revisado por pares]United States: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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The phenotype of chromosome 2p-linked limb-girdle muscular dystrophyMahjneh, I. ; Passos-Bueno, M.-R. ; Zatz, M. ; Vainzof, M. ; Marconi, G. ; Nashef, L. ; Bashir, R. ; Bushby, K.Neuromuscular disorders : NMD, 1996-12, Vol.6 (6), p.483-490 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?Tonini, M.M.O ; Passos-Bueno, M.R ; Cerqueira, A ; Pavanello, R ; Vainzof, M ; Dubowitz, V ; Zatz, MNeuromuscular disorders : NMD, 2002-08, Vol.12 (6), p.554-557 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian familiesPassos-Bueno, M R ; Moreira, E S ; Marie, S K ; Bashir, R ; Vasquez, L ; Love, D R ; Vainzof, M ; Iughetti, P ; Oliveira, J R ; Bakker, E ; Strachan, T ; Bushby, K ; Zatz, MJournal of medical genetics, 1996-02, Vol.33 (2), p.97-102 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |