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ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neuronsOliveira, D. ; Assoni, A.F. ; Alves, L.M. ; Sakugawa, A. ; Melo, U.S. ; Teles e Silva, A.L. ; Sertie, A.L. ; Caires, L.C. ; Goulart, E. ; Ghirotto, B. ; Carvalho, V.M. ; Ferrari, M.R. ; Zatz, M.Neurobiology of disease, 2024-08, Vol.198, p.106540, Article 106540 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Milder course in Duchenne patients with nonsense mutations and no muscle dystrophinZatz, M ; Pavanello, R.C.M ; Lazar, M ; Yamamoto, G.L ; Lourenço, N.C.V ; Cerqueira, A ; Nogueira, L ; Vainzof, MNeuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.986-989 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Mild course in atypical Duchenne muscular dystrophy patients is not caused by utrophin overexpressionVainzof, M ; Feitosa, L ; Canovas, M ; Pavanello, R ; Zatz, MNeuromuscular disorders : NMD, 2015-10, Vol.25, p.S251-S251 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Nemaline myopathy: Clinical, pathological, muscle imaging and molecular characterization in a cohort of Brazilian patientsGurgel-Giannetti, J ; Yamamoto, G ; Lazar, M ; Machado, M ; Tavares, W ; Pavanello, R ; Oliveira, A ; Zatz, M ; Vainzof, MNeuromuscular disorders : NMD, 2016-10, Vol.26, p.S132-S132 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Controversial preclinical results in neuromuscular animal models: Are they related to differences in mesenchymal stromal cells (MSCs) secretome?Assoni, A ; Coatti, G ; Beccari, M ; Gomes, J ; Cardozo, K ; Neto, M ; Carvalho, V ; Zatz, MNeuromuscular disorders : NMD, 2016-10, Vol.26, p.S128-S128 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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A normal life without muscle dystrophinZatz, M ; Vieira, N.M ; Zucconi, E ; Pelatti, M ; Gomes, J ; Vainzof, M ; Martins-Bach, A.B ; Garcia Otaduy, M.C ; Bento dos Santos, G ; Amaro, E ; Landini, V ; Andrade, TNeuromuscular disorders : NMD, 2015-05, Vol.25 (5), p.371-374 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Long term follow-up of GRMD dogs transplanted with human adipose derived stem cellsZatz, M ; Gomes, J ; Pelatti, M ; Secco, M ; Vieira, N ; Zucconi, E ; Vainzof, M ; Landini, V ; Andrade, TNeuromuscular disorders : NMD, 2015-10, Vol.25, p.S290-S290 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Nemaline myopathy: Next generation sequencing (NGS) significantly improving the molecular classification of Brazilian familiesGurgel-Giannetti, J ; Lazar, M ; Pavanello, R ; Concentino, E ; Fernandes, F ; Sampaio, G ; Zatz, M ; Vainzof, MNeuromuscular disorders : NMD, 2015-10, Vol.25, p.S288-S288 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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What motivates patients' relatives to undergo genetic testing in search of a pathogenic mutation?Forbes, J ; Padovan, E ; Fonseca, F ; Mouzat, A ; Rüdiger, D ; Macedo, E ; Andrade, H ; Araujo, H ; Lagonegro, L ; Lise, L ; Naccache, M ; Valladares, T ; Genesini, T ; Pavanello, R ; Zatz, MNeuromuscular disorders : NMD, 2016-10, Vol.26, p.S208-S208 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Jagged1 as a modifier of the DMD phenotype: What is next?Vieira, N ; Assoni, A ; Elvers, I ; Alexander, M ; Eran, A ; Marshall, J ; Verjovski-Almeida, S ; Lindblad-Toh, K ; Kunkel, L ; Zatz, MNeuromuscular disorders : NMD, 2016-10, Vol.26, p.S156-S156 [Periódico revisado por pares]Texto completo disponível |