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Cold Spring Harbor Molecular Case Studies|June 5, 2019
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disordersRuth Lamb, Jonathan D Rohrer, Raquel Real, et al.Archives of Neurology|September 15, 2005
Magnetic resonance imaging signatures of tissue pathology in frontotemporal dementiaJennifer L Whitwell, Keith A Josephs, Martin N Rossor, et al.Acta Neuropathologica|December 3, 2013
The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neuronsMariangela Iovino, Ulrich Pfisterer, Janice L Holton, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 26, 2015
Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?Helen Ling, Seamus Kearney, Helen Lai Kuen Yip, et al.Human Molecular Genetics|April 15, 2014
The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cellsMohamed-Bilal Fares, Nadine Ait-Bouziad, Igor Dikiy, et al.Brain : a Journal of Neurology|May 21, 2011
Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?Yaroslau Compta, Laura Parkkinen, Sean S O'Sullivan, et al.Neurobiology of Aging|December 5, 2013
Dysregulation of glucose metabolism is an early event in sporadic Parkinson's diseaseLaura Dunn, George Fg Allen, Adamantios Mamais, et al.Brain : a Journal of Neurology|May 10, 2020
Hippocampal α-synuclein pathology correlates with memory impairment in multiple system atrophyYasuo Miki, Sandrine C Foti, Daniela Hansen, et al.Brain : a Journal of Neurology|June 20, 2018
Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brainsKatya Mokretar, Daniel Pease, Jan-Willem Taanman, et al.Journal of Medical Genetics|March 8, 2011
Kearns-Sayre syndrome caused by defective R1/p53R2 assemblyRobert D S Pitceathly, Elisa Fassone, Jan-Willem Taanman, et al.Pageof 17