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Neurology|February 15, 2013
CSF1R mutations link POLD and HDLS as a single disease entityAlexandra M Nicholson, Matt C Baker, Nicole A Finch, et al.
Brain Pathology (Zurich, Switzerland)|July 11, 2024
Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological studyAya Murakami, Shunsuke Koga, Shinsuke Fujioka, et al.
Molecular Neurodegeneration|February 1, 2020
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriersJazmyne L Jackson, NiCole A Finch, Matthew C Baker, et al.
Molecular Neurodegeneration|July 11, 2018
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility lociMonica Y Sanchez-Contreras, Naomi Kouri, Casey N Cook, et al.
Journal of Neurochemistry|June 8, 2013
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementiaAlexandra M Nicholson, Nicole A Finch, Aleksandra Wojtas, et al.
Brain : a Journal of Neurology|June 7, 2020
Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategiesXiaolai Zhou, Alexandra M Nicholson, Yingxue Ren, et al.
Brain : a Journal of Neurology|December 17, 2021
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutationsCyril Pottier, Ligia Mateiu, Matthew C Baker, et al.
Acta Neuropathologica|April 19, 2024
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansionEvan Udine, Mariely DeJesus-Hernandez, Shulan Tian, et al.
Acta Neuropathologica Communications|June 2, 2018
Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicityAlexandra M Nicholson, Xiaolai Zhou, Ralph B Perkerson, 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.
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