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1 |
Material Type: Artigo
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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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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 |
3 |
Material Type: Artigo
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Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)Tonini, M.M.O ; Passos-Bueno, M.R ; Cerqueira, A ; Matioli, S.R ; Pavanello, R ; Zatz, MNeuromuscular disorders : NMD, 2004, Vol.14 (1), p.33-38 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strengthAmbrósio, C.E ; Valadares, M.C ; Zucconi, E ; Cabral, R ; Pearson, P.L ; Gaiad, T.P ; Canovas, M ; Vainzof, M ; Miglino, M.A ; Zatz, MNeuromuscular disorders : NMD, 2008-11, Vol.18 (11), p.892-893 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Identical twins with Idiopathic Basal Ganglia Calcification (“Fahr's Disease”) presenting with a remarkably similar pattern of neuroimaging findingsOliveira, J.R.M ; Lima Filho, J.L ; Zatz, MParkinsonism & related disorders, 2009-06, Vol.15 (5), p.396-397 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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A family with McLeod syndrome and calpainopathy with clinically overlapping diseasesSTARLING, A ; SCHLESINGER, D ; KOK, F ; PASSOS-BUENO, M. Rita ; VAINZOF, M ; ZATZ, MNeurology, 2005-12, Vol.65 (11), p.1832-1833 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 GeneSchwartzman, J. S. ; Bernardino, Andrea ; Nishimura, Agnes ; Gomes, Raquel R. ; Zatz, MayanaNeuropediatrics, 2001-06, Vol.32 (3), p.162-164 [Periódico revisado por pares]Stuttgart: ThiemeTexto completo disponível |
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Material Type: Artigo
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Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2IVieira, N.M. ; Schlesinger, D. ; de Paula, F. ; Vainzof, M. ; Zatz, M.Neuromuscular disorders : NMD, 2006-12, Vol.16 (12), p.870-873 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcificationHsu, Sandy Chan ; Sears, Renee L. ; Lemos, Roberta R. ; Quintáns, Beatriz ; Huang, Alden ; Spiteri, Elizabeth ; Nevarez, Lisette ; Mamah, Catherine ; Zatz, Mayana ; Pierce, Kerrie D. ; Fullerton, Janice M. ; Adair, John C. ; Berner, Jon E. ; Bower, Matthew ; Brodaty, Henry ; Carmona, Olga ; Dobricić, Valerija ; Fogel, Brent L. ; García-Estevez, Daniel ; Goldman, Jill ; Goudreau, John L. ; Hopfer, Suellen ; Janković, Milena ; Jaumà, Serge ; Jen, Joanna C. ; Kirdlarp, Suppachok ; Klepper, Joerg ; Kostić, Vladimir ; Lang, Anthony E. ; Linglart, Agnès ; Maisenbacher, Melissa K. ; Manyam, Bala V. ; Mazzoni, Pietro ; Miedzybrodzka, Zofia ; Mitarnun, Witoon ; Mitchell, Philip B. ; Mueller, Jennifer ; Novaković, Ivana ; Paucar, Martin ; Paulson, Henry ; Simpson, Sheila A. ; Svenningsson, Per ; Tuite, Paul ; Vitek, Jerrold ; Wetchaphanphesat, Suppachok ; Williams, Charles ; Yang, Michele ; Schofield, Peter R. ; de Oliveira, João R. M. ; Sobrido, María-Jesús ; Geschwind, Daniel H. ; Coppola, GiovanniNeurogenetics, 2013-02, Vol.14 (1), p.11-22 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
10 |
Material Type: Artigo
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The 10 autosomal recessive limb-girdle muscular dystrophiesZatz, Mayana ; de Paula, Flavia ; Starling, Alessandra ; Vainzof, MarizNeuromuscular Disorders, 2003-09, Vol.13 (7), p.532-544 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |