New concepts in basement membrane biology W Halfter, P Oertle, CA Monnier, L Camenzind, M Reyes‐Lua, H Hu, ... The FEBS journal 282 (23), 4466-4479, 2015 | 167 | 2015 |
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants K Tatton-Brown, A Zachariou, C Loveday, A Renwick, S Mahamdallie, ... Wellcome open research 3, 2018 | 86 | 2018 |
Podocyturia in Fabry disease EM Pereira, AS Silva, A Labilloy, JT Monte Neto, SJH Monte Brazilian Journal of Nephrology 38, 49-53, 2016 | 28 | 2016 |
Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology EM Pereira, A Labilloy, ML Eshbach, A Roy, AR Subramanya, S Monte, ... American Journal of Physiology-Renal Physiology 311 (5), F1015-F1024, 2016 | 24 | 2016 |
Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease A Labilloy, RT Youker, JR Bruns, I Kukic, K Kiselyov, W Halfter, ... Molecular genetics and metabolism 111 (2), 184-192, 2014 | 23 | 2014 |
Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13 BE Russell, KG Whaley, KE Bove, A Labilloy, RC Lombardo, RJ Hopkin, ... Hepatology 70 (3), 1066-1070, 2019 | 21 | 2019 |
Induction of sister chromatid exchange by acrylamide and glycidamide in human lymphocytes: role of polymorphisms in detoxification and DNA-repair genes in the genotoxicity of … M Pingarilho, NG Oliveira, C Martins, BC Gomes, AS Fernandes, ... Mutation Research/Genetic Toxicology and Environmental Mutagenesis 752 (1-2 …, 2013 | 21 | 2013 |
VAMP7 modulates ciliary biogenesis in kidney cells CM Szalinski, A Labilloy, JR Bruns, OA Weisz PLoS One 9 (1), e86425, 2014 | 19 | 2014 |
Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease EM Pereira, SJH do Monte, FF do Nascimento, JAF de Castro, JLM Sousa, ... Gene 536 (1), 118-122, 2014 | 17 | 2014 |
Proteomic profiling of engineered human immortalized podocyte cell model of Fabry disease JTM Neto, GM Kirsztajn, EM Pereira, HM Andrade, IHR Oliveira, ... Molecular Genetics and Metabolism 126 (2), S106-S107, 2019 | 6 | 2019 |
Apical targeting and endocytosis of the sialomucin endolyn are essential for establishment of zebrafish pronephric kidney function D Mo, G Ihrke, SA Costa, L Brilli, A Labilloy, W Halfter, ... Journal of Cell Science 125 (22), 5546-5554, 2012 | 6 | 2012 |
Lose the lipid: renoprotection conferred by Gb3 synthase knockout A Labilloy, OA Weisz Kidney International 96 (2), 270-272, 2019 | 2 | 2019 |
CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M) EM Pereira, AS Silva, RN Silva, JT Monte Neto, FF Nascimento, ... Brazilian Journal of Nephrology 40, 333-338, 2018 | 2 | 2018 |
Podocyturia in Fabry disease: a tool for monitoring renal disorders EM Pereira, A Labilloy, AS da Silva, JTM Neto, SJH do Monte Molecular Genetics and Metabolism 2 (111), S85-S86, 2014 | 2 | 2014 |
Long-term clinical outcomes of patients with mucopolysaccharidosis type II: A case series M Bordley, A Labilloy, C Wehmeyer, L Berry, L Bailey, R Wood, RJ Hopkin, ... Molecular Genetics and Metabolism 129 (2), S32, 2020 | 1 | 2020 |
Deep vein thrombosis is a common life-threatening complication in mucopolysaccharidosis type II A Labilloy, L Berry, C Wehmeyer, RJ Hopkin, CE Prada Molecular Genetics and Metabolism 126 (2), S89, 2019 | 1 | 2019 |
Differences in organ abundance of iduronate 2-sulfatase and intravenous recombinant enzyme delivery: Potential implications for clinical response to ERT in MPS II AJ Shamoun, K Madrid, L Ferreira, A Labilloy Molecular Genetics and Metabolism 138 (2), 107316, 2023 | | 2023 |
Differentially expressed proteins in genetically edited human podocytes: contributing to the understanding of early molecular events in Fabry Disease JT do Monte Neto, EM Pereira, AS da Silva, IHR Oliveira, SJH do Monte, ... Brazilian Journal of Development 8 (1), 5334-5355, 2022 | | 2022 |
GENETIC AND PHENOTYPIC HETEROGENEITY IN KIAA0753-RELATED CILIOPATHIES YA Zarate, KN Weaver, RJ Hopkin, A Labilloy, D Monteil, J Spranger, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 182 (4), 917-917, 2020 | | 2020 |
Níveis de CD77 ao longo do tratamento de reposição enzimática em família com Doença de Fabry (V269M) EM Pereira, AS Silva, RN Silva, JT Monte Neto, FF Nascimento, ... Brazilian Journal of Nephrology 40, 333-338, 2018 | | 2018 |