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A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes.
Menden K, Francescatto M, Nyima T, Blauwendraat C, Dhingra A, Castillo-Lizardo M, Fernandes N, Kaurani L, Kronenberg-Versteeg D, Atasu B, Sadikoglou E, Borroni B, Rodriguez-Nieto S, Simon-Sanchez J, Fischer A, Craig DW, Neumann M, Bonn S, Rizzu P, Heutink P. Menden K, et al. Among authors: castillo lizardo m. Sci Data. 2023 Dec 1;10(1):849. doi: 10.1038/s41597-023-02598-x. Sci Data. 2023. PMID: 38040703 Free PMC article.
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: castillo lizardo m. 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.
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, Haass C, Castillo-Lizardo M, Biskup S, Maetzler W, Rizzu P, Heutink P, Synofzik M. Blauwendraat C, et al. Among authors: castillo lizardo m. Genet Med. 2018 Feb;20(2):240-249. doi: 10.1038/gim.2017.102. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749476 Free PMC article.
Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD.
Czuppa M, Dhingra A, Zhou Q, Schludi C, König L, Scharf E, Farny D, Dalmia A, Täger J, Castillo-Lizardo M, Katona E, Mori K, Aumer T, Schelter F, Müller M, Carell T, Kalliokoski T, Messinger J, Rizzu P, Heutink P, Edbauer D. Czuppa M, et al. Among authors: castillo lizardo m. Cell Rep. 2022 Jun 7;39(10):110913. doi: 10.1016/j.celrep.2022.110913. Cell Rep. 2022. PMID: 35675776 Free 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: castillo lizardo m. Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9. Genome Biol. 2017. PMID: 28137300 Free PMC article.
In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment.
Rosa F, Dhingra A, Uysal B, Mendis GDC, Loeffler H, Elsen G, Mueller S, Schwarz N, Castillo-Lizardo M, Cuddy C, Becker F, Heutink P, Reid CA, Petrou S, Lerche H, Maljevic S. Rosa F, et al. Among authors: castillo lizardo m. Stem Cell Reports. 2020 Jul 14;15(1):22-37. doi: 10.1016/j.stemcr.2020.05.015. Epub 2020 Jun 18. Stem Cell Reports. 2020. PMID: 32559460 Free PMC article.