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Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 26, 2024
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndromeAllison Snyder, Veronica H Ryan, James Hawrot, et al.
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.
NPJ Dementia|June 22, 2026
Haplotype-resolved DNA methylation at the APOE locus identifies allele-specific epigenetic signatures relevant to Alzheimer's disease riskRylee M Genner, Melissa Meredith, Kensuke Daida, et al.
Science Signaling|February 24, 2026
Temporal proteomic and phosphoproteomic dynamics during neuronal differentiation in the reference iPSC line KOLF2.1JYing Hao, Ziyi Li, Erika Lara, et al.
Journal of Parkinson'S Disease|April 5, 2024
Twelve Years of Drug Prioritization to Help Accelerate Disease Modification Trials in Parkinson's Disease: The International Linked Clinical Trials InitiativeRichard K Wyse, Tom Isaacs, Roger A Barker, 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.
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