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American Journal of Human Genetics|May 26, 2015
Jump from pre-mutation to pathologic expansion in C9orf72Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, et al.Annals of the Rheumatic Diseases|July 14, 2026
Zanubrutinib monotherapy for IgG4-related head and neck diseaseMatthew C Baker, Saurabh Gawde, Audra Horomanski, et al.Brain Pathology (Zurich, Switzerland)|March 12, 2021
Loss of Tmem106b leads to cerebellum Purkinje cell death and motor deficitsRosa Rademakers, Alexandra M Nicholson, Yingxue Ren, et al.The Lancet. Neurology|September 10, 2013
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort studyMarka van Blitterswijk, Mariely DeJesus-Hernandez, Ellis Niemantsverdriet, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 9, 2012
Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansionBaber K Khan, Jennifer S Yokoyama, Leonel T Takada, et al.Science Translational Medicine|November 12, 2025
Epstein-Barr virus reprograms autoreactive B cells as antigen-presenting cells in systemic lupus erythematosusShady Younis, Salvinaz I Moutusy, Sajede Rasouli, et al.Annals of Neurology|December 4, 2020
Lewy Body Disease is a Contributor to Logopenic Progressive Aphasia PhenotypeMarina Buciuc, Jennifer L Whitwell, Koji Kasanuki, et al.Acta Neuropathologica Communications|October 10, 2019
Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriersDennis W Dickson, Matthew C Baker, Jazmyne L Jackson, et al.Brain : a Journal of Neurology|April 23, 2021
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseasesMariely DeJesus-Hernandez, Ross A Aleff, Jazmyne L Jackson, et al.Acta Neuropathologica|October 7, 2015
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72Marka van Blitterswijk, Tania F Gendron, Matthew C Baker, et al.Pageof 15