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Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.

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Title: Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.
Authors: Lok HC; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia., Dobson-Stone C; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia., Hallupp M; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia., Matis S; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia., Landin-Romero R; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia., Guennewig B; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia., Mundell H; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia., Don AS; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; Charles Perkins Centre, The University of Sydney, Camperdown, 2006 NSW, Australia., Fifita J; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia., McCann EP; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia., Fat SCM; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia., Blair IP; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia., Mather KA; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia., Thalamuthu A; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia., Wen W; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia., Sachdev PS; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia.; Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, 2052 NSW, Australia., Brooks WS; Neuroscience Research Australia, Randwick, 2031 NSW, Australia., Piguet O; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; School of Psychology, The University of Sydney, Camperdown, 2006 NSW, Australia., Halliday GM; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia., Kim WS; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia., Kwok JB; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.
Source: Human molecular genetics [Hum Mol Genet] 2026 May 11; Vol. 35 (8).
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
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  Data: Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.
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  Data: <searchLink fieldCode="AU" term="%22Lok+HC%22">Lok HC</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Dobson-Stone+C%22">Dobson-Stone C</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Hallupp+M%22">Hallupp M</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Matis+S%22">Matis S</searchLink>; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Landin-Romero+R%22">Landin-Romero R</searchLink>; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Guennewig+B%22">Guennewig B</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Mundell+H%22">Mundell H</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Don+AS%22">Don AS</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; Charles Perkins Centre, The University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Fifita+J%22">Fifita J</searchLink>; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22McCann+EP%22">McCann EP</searchLink>; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Fat+SCM%22">Fat SCM</searchLink>; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Blair+IP%22">Blair IP</searchLink>; Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, 2109 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Mather+KA%22">Mather KA</searchLink>; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Thalamuthu+A%22">Thalamuthu A</searchLink>; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Wen+W%22">Wen W</searchLink>; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Sachdev+PS%22">Sachdev PS</searchLink>; Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW  Sydney, 2052 NSW, Australia.; Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, 2052 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Brooks+WS%22">Brooks WS</searchLink>; Neuroscience Research Australia, Randwick, 2031 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Piguet+O%22">Piguet O</searchLink>; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.; School of Psychology, The University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Halliday+GM%22">Halliday GM</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kim+WS%22">Kim WS</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kwok+JB%22">Kwok JB</searchLink>; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, 2006 NSW, Australia.; Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Camperdown, 2006 NSW, Australia.
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