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Genome Research|December 23, 2016
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network ResourceMichael J Keogh, Wei Wei, Ian Wilson, et al.Acta Neuropathologica Communications|February 4, 2017
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brainsWei Wei, Michael J Keogh, Ian Wilson, et al.Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.Neurology|December 24, 2013
Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD studyAlison J Yarnall, David P Breen, Gordon W Duncan, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|August 17, 2018
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's diseaseGaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, et al.Pageof 37