A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.

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Title: A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Authors: Thumbadoo KM; School of Biological Sciences, University of Auckland, Auckland 1010, New Zealand; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand., Nementzik LR; School of Biological Sciences, University of Auckland, Auckland 1010, New Zealand; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand., Swanson MEV; School of Biological Sciences, University of Auckland, Auckland 1010, New Zealand; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand., Dieriks BV; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand; Department of Anatomy and Medical Imaging, University of Auckland, Auckland 1010, New Zealand., Dragunow M; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand; Department of Pharmacology and Clinical Pharmacology, University of Auckland, Auckland 1010, New Zealand., Faull RLM; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand; Department of Anatomy and Medical Imaging, University of Auckland, Auckland 1010, New Zealand., Curtis MA; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand; Department of Anatomy and Medical Imaging, University of Auckland, Auckland 1010, New Zealand., Blair IP; Macquarie University, Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Nicholson GA; Macquarie University, Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales 2109, Australia; Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, New South Wales 2139, Australia; Faculty of Medicine, University of Sydney, Sydney, New South Wales 2050, Australia; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, New South Wales 2139, Australia., Williams KL; Macquarie University, Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Scotter EL; School of Biological Sciences, University of Auckland, Auckland 1010, New Zealand; Centre for Brain Research, University of Auckland, Auckland 1010, New Zealand. Electronic address: emma.scotter@auckland.ac.nz.
Source: Neurobiology of disease [Neurobiol Dis] 2025 Nov; Vol. 216, pp. 107127. Date of Electronic Publication: 2025 Sep 26.
Publication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1095-953X
DOI:10.1016/j.nbd.2025.107127