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Neuropsychology|November 6, 2025
Validity of telephone-administered word list learning measures for assessment of episodic memory in aging and Alzheimer's diseaseToni T Saari, Aino Aaltonen, Karin Lohi, et al.European Journal of Human Genetics : EJHG|February 21, 2013
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocationAnne Frühmesser, Jonathon Blake, Edda Haberlandt, et al.Molecular Systems Biology|May 2, 2013
Characterization of drug-induced transcriptional modules: towards drug repositioning and functional understandingMurat Iskar, Georg Zeller, Peter Blattmann, et al.Brain Communications|June 3, 2026
Scalable biological-cognitive profiling for Alzheimer's disease in the populationKarin Lohi, Aino Aaltonen, Sanna-Kaisa Herukka, et al.Nature Aging|April 28, 2023
Immune system-wide Mendelian randomization and triangulation analyses support autoimmunity as a modifiable component in dementia-causing diseasesJoni V Lindbohm, Nina Mars, Pyry N Sipilä, et al.Orphanet Journal of Rare Diseases|June 9, 2012
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlationsAndreas Herzog, Ralf Hartung, Arnold J J Reuser, et al.Human Molecular Genetics|July 6, 2016
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cellsDarius Ebrahimi-Fakhari, Lara Wahlster, Fabian Bartz, et al.Nature Communications|August 26, 2024
Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK BiobankRobert F Hillary, Danni A Gadd, Zhana Kuncheva, et al.Plos One|March 15, 2014
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variationJonathon Blake, Andrew Riddell, Susanne Theiss, et al.Neurology. Genetics|May 31, 2024
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple SclerosisElina Misicka, Yunfeng Huang, Stephanie Loomis, et al.Pageof 10