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JAMA|August 10, 2006
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson diseaseDemetrius M Maraganore, Mariza de Andrade, Alexis Elbaz, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 29, 2018
Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibitionFlorian A Siebzehnrübl, Kerstin A Raber, Yvonne K Urbach, et al.
Acta Neuropathologica|August 1, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagyJonasz J Weber, Leah Czisch, Priscila Pereira Sena, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Brain : a Journal of Neurology|June 29, 2014
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, et al.
Brain : a Journal of Neurology|April 12, 2017
Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathiesHugo Vicente Miranda, Éva M Szego, Luís M A Oliveira, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
HGG Advances|June 30, 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19Jannik Boos, Caspar I van der Made, Gayatri Ramakrishnan, et al.
Neurobiology of Aging|December 29, 2009
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's diseaseRejko Krüger, Manu Sharma, Olaf Riess, et al.
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