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C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
Rizzu P, Blauwendraat C, Heetveld S, Lynes EM, Castillo-Lizardo M, Dhingra A, Pyz E, Hobert M, Synofzik M, Simón-Sánchez J, Francescatto M, Heutink P. Rizzu P, et al. Among authors: heetveld s. Acta Neuropathol Commun. 2016 Apr 14;4(1):37. doi: 10.1186/s40478-016-0306-7. Acta Neuropathol Commun. 2016. PMID: 27079381 Free PMC article.
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC); Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P. Jansen IE, et al. Among authors: heetveld s. Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9. Genome Biol. 2017. PMID: 28137300 Free PMC article.
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P. Bettencourt C, et al. Among authors: heetveld s. Cerebellum. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7. Cerebellum. 2015. PMID: 25592071 No abstract available.
The Alzheimer's disease drug development landscape.
van Bokhoven P, de Wilde A, Vermunt L, Leferink PS, Heetveld S, Cummings J, Scheltens P, Vijverberg EGB. van Bokhoven P, et al. Among authors: heetveld s. Alzheimers Res Ther. 2021 Nov 11;13(1):186. doi: 10.1186/s13195-021-00927-z. Alzheimers Res Ther. 2021. PMID: 34763720 Free PMC article.
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL. Chandrachud U, et al. Among authors: heetveld s. J Biol Chem. 2015 Jun 5;290(23):14361-80. doi: 10.1074/jbc.M114.621706. Epub 2015 Apr 15. J Biol Chem. 2015. PMID: 25878248 Free PMC article.