| LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance M Rothaug, F Zunke, JR Mazzulli, M Schweizer, H Altmeppen, ... Proceedings of the National Academy of Sciences 111 (43), 15573-15578, 2014 | 137 | 2014 |
| A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome A Balreira, P Gaspar, D Caiola, J Chaves, I Beirao, JL Lima, JE Azevedo, ... Human molecular genetics 17 (14), 2238-2243, 2008 | 130 | 2008 |
| EuGene: maximizing synthetic gene design for heterologous expression P Gaspar, JL Oliveira, J Frommlet, MAS Santos, G Moura Bioinformatics 28 (20), 2683-2684, 2012 | 93 | 2012 |
| Glucosylated cholesterol in mammalian cells and tissues: Formation and degradation by multiple cellular β-glucosidases [S] ARA Marques, M Mirzaian, H Akiyama, P Wisse, MJ Ferraz, P Gaspar, ... Journal of lipid research 57 (3), 451-463, 2016 | 92 | 2016 |
| Frequency of Fabry disease in male and female haemodialysis patients in Spain P Gaspar, J Herrera, D Rodrigues, S Cerezo, R Delgado, CF Andrade, ... BMC medical genetics 11, 1-7, 2010 | 83 | 2010 |
| Serum lipid alterations in GBA-associated Parkinson's disease LC Guedes, RB Chan, MA Gomes, VA Conceicao, RB Machado, T Soares, ... Parkinsonism & related disorders 44, 58-65, 2017 | 81 | 2017 |
| Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models G Kramer, W Wegdam, W Donker‐Koopman, R Ottenhoff, P Gaspar, ... FEBS Open Bio 6 (9), 902-913, 2016 | 73 | 2016 |
| Glycoprotein non-metastatic protein B: an emerging biomarker for lysosomal dysfunction in macrophages MJC Van der Lienden, P Gaspar, R Boot, JMFG Aerts, M Van Eijk International journal of molecular sciences 20 (1), 66, 2018 | 64 | 2018 |
| Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders MJ Ferraz, ARA Marques, P Gaspar, M Mirzaian, C van Roomen, ... Molecular genetics and metabolism 117 (2), 186-193, 2016 | 56 | 2016 |
| Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards M Mirzaian, P Wisse, MJ Ferraz, ARA Marques, P Gaspar, SV Oussoren, ... Clinica Chimica Acta 466, 178-184, 2017 | 50 | 2017 |
| Dihydrobis (3, 5-dimethylpyrazolyl) borate derivatives of ƒ elements A Carvalho, Â Domingos, P Gaspar, N Marques, AP De Matos, I Santos Polyhedron 11 (12), 1481-1488, 1992 | 48 | 1992 |
| Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis P Gaspar, WW Kallemeijn, A Strijland, S Scheij, M Van Eijk, J Aten, ... Journal of lipid research 55 (1), 138-145, 2014 | 40 | 2014 |
| Novel L2HGDH mutations in 21 patients with L‐2‐hydroxyglutaric aciduria of Portuguese origin L Vilarinho, ML Cardoso, P Gaspar, C Barbot, L Azevedo, L Diogo, ... Human mutation 26 (4), 395-396, 2005 | 39 | 2005 |
| Founder effect of Fabry disease due to p. F113L mutation: Clinical profile of a late-onset phenotype O Azevedo, A Gal, R Faria, P Gaspar, G Miltenberger-Miltenyi, MF Gago, ... Molecular Genetics and Metabolism 129 (2), 150-160, 2020 | 38 | 2020 |
| Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings J Chaves, I Beirão, A Balreira, P Gaspar, D Caiola, MC Sá-Miranda, ... Seizure 20 (9), 738-740, 2011 | 34 | 2011 |
| Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient? O Azevedo, P Gaspar, C Sá Miranda, D Cunha, R Medeiros, A Lourenço Cardiology 119 (3), 155-159, 2011 | 25 | 2011 |
| Effect of single‐nucleotide polymorphisms of the 5′ untranslated region of the human α‐galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians JP Oliveira, S Ferreira, J Barcelo, P Gaspar, F Carvalho, MC Sa Miranda, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2008 | 22 | 2008 |
| Parkinson’s disease and Fabry disease: clinical, biochemical and neuroimaging analysis of three pedigrees MF Gago, O Azevedo, A Guimarães, A Teresa Vide, NJ Lamas, ... Journal of Parkinson's Disease 10 (1), 141-152, 2020 | 17 | 2020 |
| Development of an antisense oligonucleotide-mediated exon skipping therapeutic strategy for Mucolipidosis II: Validation at RNA level L Matos, R Vilela, M Rocha, JI Santos, MF Coutinho, P Gaspar, MJ Prata, ... Human Gene Therapy 31 (13-14), 775-783, 2020 | 16 | 2020 |
| Analysis of vegetable oil from different suppliers by chemometric techniques to ensure correct classification of oil sources to deal with counterfeiting AC Godoy, PDS dos Santos, AY Nakano, RA Bini, DAB Siepmann, ... Food Analytical Methods 13, 1138-1147, 2020 | 14 | 2020 |
