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Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
Nature Communications|December 22, 2023
Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responsesBenedict D Michael, Cordelia Dunai, Edward J Needham, et al.
American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.
Human Genetics|July 1, 2008
Replication of association between ELAVL4 and Parkinson disease: the GenePD studyAnita L DeStefano, Jeanne Latourelle, Mark F Lew, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 24, 2008
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD studyChristopher F McNicoll, Jeanne C Latourelle, Marcy E MacDonald, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
BMC Medicine|November 7, 2008
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD studyJeanne C Latourelle, Mei Sun, Mark F Lew, et al.
Human Molecular Genetics|November 4, 2010
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21, , Chris C A Spencer, et al.
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