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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: blauwendraat c. 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: blauwendraat c. 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.
Evidence for GRN connecting multiple neurodegenerative diseases.
Nalls MA, Blauwendraat C, Sargent L, Vitale D, Leonard H, Iwaki H, Song Y, Bandres-Ciga S, Menden K, Faghri F, Heutink P, Cookson MR, Singleton AB. Nalls MA, et al. Among authors: blauwendraat c. Brain Commun. 2021 May 1;3(2):fcab095. doi: 10.1093/braincomms/fcab095. eCollection 2021. Brain Commun. 2021. PMID: 34693284 Free PMC article.
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
Bressan E, Reed X, Bansal V, Hutchins E, Cobb MM, Webb MG, Alsop E, Grenn FP, Illarionova A, Savytska N, Violich I, Broeer S, Fernandes N, Sivakumar R, Beilina A, Billingsley KJ, Berghausen J, Pantazis CB, Pitz V, Patel D, Daida K, Meechoovet B, Reiman R, Courtright-Lim A, Logemann A, Antone J, Barch M, Kitchen R, Li Y, Dalgard CL; American Genome Center; Rizzu P, Hernandez DG, Hjelm BE, Nalls M, Gibbs JR, Finkbeiner S, Cookson MR, Van Keuren-Jensen K, Craig DW, Singleton AB, Heutink P, Blauwendraat C. Bressan E, et al. Among authors: blauwendraat c. Cell Genom. 2023 Feb 6;3(3):100261. doi: 10.1016/j.xgen.2023.100261. eCollection 2023 Mar 8. Cell Genom. 2023. PMID: 36950378 Free PMC article.
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, Wood N, Hardy J, Gan-Or Z, Heutink P, Gasser T, Morris HR, Noyce AJ, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Ann Neurol. 2021 Jul;90(1):35-42. doi: 10.1002/ana.26090. Epub 2021 May 24. Ann Neurol. 2021. PMID: 33901317 Free PMC article.
The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.
Koriath CA, Bocchetta M, Brotherhood E, Woollacott IO, Norsworthy P, Simón-Sánchez J, Blauwendraat C, Dick KM, Gordon E, Harding SR, Fox NC, Crutch S, Warren JD, Revesz T, Lashley T, Mead S, Rohrer JD. Koriath CA, et al. Among authors: blauwendraat c. Alzheimers Dement (Amst). 2016 Nov 3;6:75-81. doi: 10.1016/j.dadm.2016.10.003. eCollection 2017. Alzheimers Dement (Amst). 2016. PMID: 28229125 Free PMC article.
173 results