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Human Molecular Genetics|May 21, 2014
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypesVladimir Vacic, Laurie J Ozelius, Lorraine N Clark, et al.Research Square|February 27, 2026
Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's DiseaseDaniele Mattei, Erica Brophy, Mikaela Rosen, et al.American Journal of Human Genetics|December 24, 2025
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonismAlan Mejia Maza, Madison Hincher, Kevin Correia, et al.Annals of Neurology|April 19, 2013
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 geneKatja Lohmann, Robert A Wilcox, Susen Winkler, et al.Nature Communications|May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonismBjörn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.Acta Neuropathologica Communications|April 9, 2022
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeatLindsey N Campion, Alan Mejia Maza, Rachita Yadav, et al.Nature Communications|September 10, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European originsShai Carmi, Ken Y Hui, Ethan Kochav, et al.Journal of Neural Transmission (Vienna, Austria : 1996)|January 13, 2021
Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-ParkinsonismCara Fernandez-Cerado, G Paul Legarda, M Salvie Velasco-Andrada, et al.Cell|February 24, 2018
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome AssemblyTatsiana Aneichyk, William T Hendriks, Rachita Yadav, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.Pageof 12