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Lysosomal Storage Disorders Research Sign in to save
Papers per year
Papers 88
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Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions2021 Biomolecules article Medicine Lysosomal Storage Disorders Research Open access cited by 1 patent
Ken Kok, Kimberley C. Zwiers, Rolf G. Boot, Herman S. Overkleeft, Johannes M. F. G. Aerts, Marta Artola
131citations -
A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands2020 Movement Disorders article Medicine Lysosomal Storage Disorders Research Open access cited by 2 patents
Jonas M. den Heijer, Valerie Cullen, Marialuisa Quadri, Arnoud Schmitz, Dana C. Hilt, Peter T. Lansbury, +17 more
75citations -
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 12022 Orphanet Journal of Rare Diseases article Medicine Lysosomal Storage Disorders Research Open access
Andrea Dardis, Helen Michelakakis, Paula Adriana Rozenfeld, Ksenija Fumić, Jasenka Wagner, Eleonora Pavan, +5 more
60citations -
A randomized single and multiple ascending dose study in healthy volunteers of LTI‐291, a centrally penetrant glucocerebrosidase activator2021 British Journal of Clinical Pharmacology article Medicine Lysosomal Storage Disorders Research Open access cited by 2 patents
Jonas M. den Heijer, Annelieke C. Kruithof, Guido van Amerongen, Marieke L. de Kam, Eva Thijssen, Hendrika W. Grievink, +10 more
46citations -
Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol2020 Journal of Biological Chemistry article Medicine Lysosomal Storage Disorders Research Open access cited by 1 patent
Hisako Akiyama, Mitsuko Ide, Yasuko Nagatsuka, Tomoko Sayano, Etsuro Nakanishi, Norihito Uemura, +7 more
42citations -
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers2020 Molecular Genetics and Metabolism article Medicine Lysosomal Storage Disorders Research Open access
Eline C. B. Eskes, Barbara Sjouke, Frédéric Maxime Vaz, Susan M. I. Goorden, André B. P. Kuilenburg, Johannes M. F. G. Aerts, +1 more
39citations -
GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice2021 International Journal of Molecular Sciences article Medicine Lysosomal Storage Disorders Research Open access
Martijn J. C. van der Lienden, Jan Aten, André R. A. Marques, Ingeborg S. E. Waas, Per W. B. Larsen, Nike Claessen, +4 more
36citations -
Correction of pathology in mice displaying Gaucher disease type 1 by a clinically-applicable lentiviral vector2020 Molecular Therapy — Methods & Clinical Development erratum Medicine Lysosomal Storage Disorders Research Open access cited by 1 patent
Maria Dahl, Emma M. K. Smith, Sarah Warsi, Michael Rothe, Maria J. Ferraz, Johannes M. F. G. Aerts, +7 more
23citations -
Gaucher disease protects against tuberculosis2023 Proceedings of the National Academy of Sciences article Medicine Lysosomal Storage Disorders Research Open access
Jingwen Fan, Victoria L. Hale, Lindsey T. Lelieveld, Laura J. Whitworth, Elisabeth M. Busch‐Nentwich, Mark A. Troll, +5 more
21citations -
Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases
Daniël van der Gracht, Rhianna J. Rowland, V. Roig-Zamboni, Maria J. Ferraz, Max Louwerse, Paul P. Geurink, +5 more
12citations -
A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases2024 Proceedings of the National Academy of Sciences article Medicine Lysosomal Storage Disorders Research Open access
William C. Hou, Lynée A. Massey, Derek J. Rhoades, Yin Wu, Wen Ren, Chiara Frank, +2 more
12citations
Most active Aachen authors
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Johannes M. F. G. Aerts 29,390 citations overall53 papers
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Maria J. Ferraz 1,620 citations overall18 papers
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Herman S. Overkleeft 29,012 citations overall15 papers
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Marta Artola 1,946 citations overall15 papers
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Rolf G. Boot 11,486 citations overall14 papers
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Martijn van der Lienden 2 citations overall10 papers
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Lindsey T. Lelieveld 381 citations overall7 papers
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Martijn J. C. van der Lienden 329 citations overall7 papers
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Geert Jan Groeneveld 5,330 citations overall6 papers
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Jonas M. den Heijer 363 citations overall6 papers
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Qin Su 3,286 citations overall5 papers
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C.J. Kuo 879 citations overall5 papers
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Marco van Eijk 5,194 citations overall4 papers
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Daphne E.C. Boer 533 citations overall4 papers
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Rob F. Lammers 87 citations overall4 papers