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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: 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.
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.
Publisher Correction: Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease.
Dong X, Liao Z, Gritsch D, Hadzhiev Y, Bai Y, Locascio JJ, Guennewig B, Liu G, Blauwendraat C, Wang T, Adler CH, Hedreen JC, Faull RLM, Frosch MP, Nelson PT, Rizzu P, Cooper AA, Heutink P, Beach TG, Mattick JS, Müller F, Scherzer CR. Dong X, et al. Among authors: blauwendraat c. Nat Neurosci. 2019 Jan;22(1):144-147. doi: 10.1038/s41593-018-0277-z. Nat Neurosci. 2019. PMID: 30482917
173 results