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Molecular Genetics and Metabolism|November 25, 2017
Epilepsy in mucopolysaccharidosis disordersMaurizio Scarpa, Charles Marques Lourenço, Hernán AmartinoActa Cirurgica Brasileira|February 1, 2008
Teratogenic effect of retinoic acid in swiss micePaulo Roberto Veiga Quemelo, Charles Marques Lourenço, Luiz Cesar PeresArquivos De Neuro-Psiquiatria|July 28, 2012
X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriersCharles Marques Lourenço, Gustavo Novelino Simão, Antonio Carlos Santos, et al.Neuroradiology|June 17, 2024
Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian familiesMarianna Angelo Palmejani Albacete, Gustavo Novelino Simão, Charles Marques Lourenço, et al.Orphanet Journal of Rare Diseases|July 10, 2019
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative dataElsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, et al.Journal of Neurology|June 13, 2015
Psychiatric disorders, spinocerebellar ataxia type 3 and CAG expansionUanda Cristina Almeida Silva, Wilson Marques, Charles Marques Lourenço, et al.Journal of the Neurological Sciences|December 4, 2014
Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxiaVívian Pedigone Cintra, Charles Marques Lourenço, Sandra Elisabete Marques, et al.JIMD Reports|September 6, 2021
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in BrazilCharles Marques Lourenço, Janaina Dovidio, Isabela F Lopes, et al.Human Molecular Genetics|March 20, 2015
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage siteRenata Voltolini Velho, Raffaella De Pace, Sarah Klünder, et al.Brain & Development|August 27, 2013
New insights in mucopolysaccharidosis type VI: neurological perspectiveFelippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, et al.Pageof 6