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Refinado por: assunto: Muscular Dystrophies - Genetics remover
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1
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Nigro, V ; de Sá Moreira, E ; Piluso, G ; Vainzof, M ; Belsito, A ; Politano, L ; Puca, A A ; Passos-Bueno, M R ; Zatz, M

Nature genetics, 1996-10, Vol.14 (2), p.195-198 [Periódico revisado por pares]

United States

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2
Protein defects in neuromuscular diseases
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Protein defects in neuromuscular diseases

Vainzof, M ; Zatz, M

Brazilian journal of medical and biological research, 2003-05, Vol.36 (5), p.543-555 [Periódico revisado por pares]

Brazil: Associação Brasileira de Divulgação Científica

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3
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations
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Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

Moreira, E S ; Vainzof, M ; Suzuki, O T ; Pavanello, R C M ; Zatz, M ; Passos-Bueno, M R

Journal of medical genetics, 2003-02, Vol.40 (2), p.e12-12 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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4
The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies
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The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

Vainzof, 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 Press

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5
Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
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Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation

MCNALLY, 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, M

American journal of human genetics, 1996-11, Vol.59 (5), p.1040-1047 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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6
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 LGMD
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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 LGMD

Passos-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 Press

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7
Dysferlin protein analysis in limb-girdle muscular dystrophies
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Dysferlin protein analysis in limb-girdle muscular dystrophies

Vainzof, 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, M

Journal of molecular neuroscience, 2001-08, Vol.17 (1), p.71-80 [Periódico revisado por pares]

United States: Springer Nature B.V

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8
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
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The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

Mahjneh, 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.V

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9
Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?
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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, M

Neuromuscular disorders : NMD, 2002-08, Vol.12 (6), p.554-557 [Periódico revisado por pares]

England: Elsevier B.V

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10
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families
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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 families

Passos-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, M

Journal of medical genetics, 1996-02, Vol.33 (2), p.97-102 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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