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Biorxiv : the Preprint Server for Biology|June 26, 2025
Dissecting the biological impact of GBA1 mutations using multi-omics in an isogenic settingPilar Álvarez Jerez, Peter A Wild Crea, Dhairya Patel, et al.
Plos Genetics|June 26, 2007
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansJoyce van de Leemput, Jayanth Chandran, Melanie A Knight, et al.
Neurobiology of Aging|December 12, 2018
Genetic analysis of neurodegenerative diseases in a pathology cohortCornelis Blauwendraat, Olga Pletnikova, Joshua T Geiger, et al.
BMC Neurology|December 15, 2006
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTDParastoo Momeni, Jennifer Schymick, Shushant Jain, et al.
Annals of Human Genetics|January 31, 2013
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk LociPatrick Holton, Mina Ryten, Michael Nalls, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2026
Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brainAlexis Ayuketah, Melissa Meredith, Cristian Groza, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessmentMarzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
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