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Parkinsonism & Related Disorders|October 23, 2012
Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndromeMariely Dejesus-Hernandez, Sruti Rayaprolu, Alexandra I Soto-Ortolaza, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|October 6, 2012
Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansionElizabeth A Coon, Jasper R Daube, Mariely Dejesus-Hernandez, et al.
Brain : a Journal of Neurology|February 28, 2012
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadicsJennifer L Whitwell, Stephen D Weigand, Bradley F Boeve, et al.
Molecular Neurodegeneration|August 22, 2018
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseMark T W Ebbert, Stefan L Farrugia, Jonathon P Sens, et al.
Neurology|August 10, 2012
Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging featuresSharon J Sha, Leonel T Takada, Katherine P Rankin, et al.
American Journal of Human Genetics|November 20, 2010
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasmaMinerva M Carrasquillo, Alexandra M Nicholson, NiCole Finch, 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.
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 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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