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Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.

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Title: Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.
Authors: Blackburn NB; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia. Nicholas.Blackburn@utas.edu.au., McComish BJ; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia., Motyer A; School of Mathematics and Statistics, The University of Melbourne, Parkville, VIC, 3052, Australia.; Melbourne Integrative Genomics, The University of Melbourne, Parkville, VIC, 3052, Australia., Slimmer JC; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia., Leslie SJ; School of Mathematics and Statistics, The University of Melbourne, Parkville, VIC, 3052, Australia.; Melbourne Integrative Genomics, The University of Melbourne, Parkville, VIC, 3052, Australia., Broadley SA; Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD, 4215, Australia., Jokubaitis VG; Department of Neuroscience, Monash University, Melbourne, VIC, 3004, Australia.; Department of Neurology, Alfred Health, Melbourne, VIC, 3004, Australia., Van Der Walt A; Department of Neuroscience, Monash University, Melbourne, VIC, 3004, Australia.; Department of Neurology, Alfred Health, Melbourne, VIC, 3004, Australia., Kermode AG; Perron Institute for Neurological and Translational Science, QE II Medical Centre, The University of Western Australia, Perth, 6009, Australia.; Personalised Medicine Centre, Health Futures Institute, Murdoch University, Perth, 6150, Australia., Lechner-Scott J; Department of Neurology, John Hunter Hospital, Newcastle, NSW, 2305, Australia.; School of Medicine and Public Health, The University of Newcastle, Newcastle, NSW, 2308, Australia.; Hunter Medical Research Institute, The University of Newcastle, Callaghan, NSW, 2305, Australia., Parnell GP; Centre for Immunology and Allergy Research, Westmead Institute for Medical Research, University of Sydney, Sydney, NSW, 2145, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia., Fabis-Pedrini MJ; Perron Institute for Neurological and Translational Science, QE II Medical Centre, The University of Western Australia, Perth, 6009, Australia.; Personalised Medicine Centre, Health Futures Institute, Murdoch University, Perth, 6150, Australia., Scott RJ; Division of Molecular Medicine, NSW Health Pathology-North, John Hunter Hospital, New Lambton Heights, NSW, 2305, Australia., Jackson S; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, 3052, Australia.; Florey Department, The University of Melbourne, Melbourne, VIC, 3010, Australia., Maltby VE; Department of Neurology, John Hunter Hospital, Newcastle, NSW, 2305, Australia.; School of Medicine and Public Health, The University of Newcastle, Newcastle, NSW, 2308, Australia.; Hunter Medical Research Institute, The University of Newcastle, Callaghan, NSW, 2305, Australia., Charlesworth JC; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia., Burdon KP; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia., Taylor BV; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia., Kilpatrick TJ; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, 3052, Australia.; Florey Department, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Neurology, Royal Melbourne Hospital, Melbourne, VIC, 3052, Australia., Rubio JP; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, 3052, Australia. justin.rubio@florey.edu.au.; Florey Department, The University of Melbourne, Melbourne, VIC, 3010, Australia. justin.rubio@florey.edu.au.
Source: Genome medicine [Genome Med] 2025 Dec 10; Vol. 17 (1), pp. 149. Date of Electronic Publication: 2025 Dec 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
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  Data: Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Blackburn+NB%22">Blackburn NB</searchLink>; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia. Nicholas.Blackburn@utas.edu.au.<br /><searchLink fieldCode="AU" term="%22McComish+BJ%22">McComish BJ</searchLink>; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia.<br /><searchLink fieldCode="AU" term="%22Motyer+A%22">Motyer A</searchLink>; School of Mathematics and Statistics, The University of Melbourne, Parkville, VIC, 3052, Australia.; Melbourne Integrative Genomics, The University of Melbourne, Parkville, VIC, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Slimmer+JC%22">Slimmer JC</searchLink>; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia.<br /><searchLink fieldCode="AU" term="%22Leslie+SJ%22">Leslie SJ</searchLink>; School of Mathematics and Statistics, The University of Melbourne, Parkville, VIC, 3052, Australia.; Melbourne Integrative Genomics, The University of Melbourne, Parkville, VIC, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Broadley+SA%22">Broadley SA</searchLink>; Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD, 4215, Australia.<br /><searchLink fieldCode="AU" term="%22Jokubaitis+VG%22">Jokubaitis VG</searchLink>; Department of Neuroscience, Monash University, Melbourne, VIC, 3004, Australia.; Department of Neurology, Alfred Health, Melbourne, VIC, 3004, Australia.<br /><searchLink fieldCode="AU" term="%22Van+Der+Walt+A%22">Van Der Walt A</searchLink>; Department of Neuroscience, Monash University, Melbourne, VIC, 3004, Australia.; Department of Neurology, Alfred Health, Melbourne, VIC, 3004, Australia.<br /><searchLink fieldCode="AU" term="%22Kermode+AG%22">Kermode AG</searchLink>; Perron Institute for Neurological and Translational Science, QE II Medical Centre, The University of Western Australia, Perth, 6009, Australia.; Personalised Medicine Centre, Health Futures Institute, Murdoch University, Perth, 6150, Australia.<br /><searchLink fieldCode="AU" term="%22Lechner-Scott+J%22">Lechner-Scott J</searchLink>; Department of Neurology, John Hunter Hospital, Newcastle, NSW, 2305, Australia.; School of Medicine and Public Health, The University of Newcastle, Newcastle, NSW, 2308, Australia.; Hunter Medical Research Institute, The University of Newcastle, Callaghan, NSW, 2305, Australia.<br /><searchLink fieldCode="AU" term="%22Parnell+GP%22">Parnell GP</searchLink>; Centre for Immunology and Allergy Research, Westmead Institute for Medical Research, University of Sydney, Sydney, NSW, 2145, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Fabis-Pedrini+MJ%22">Fabis-Pedrini MJ</searchLink>; Perron Institute for Neurological and Translational Science, QE II Medical Centre, The University of Western Australia, Perth, 6009, Australia.; Personalised Medicine Centre, Health Futures Institute, Murdoch University, Perth, 6150, Australia.<br /><searchLink fieldCode="AU" term="%22Scott+RJ%22">Scott RJ</searchLink>; Division of Molecular Medicine, NSW Health Pathology-North, John Hunter Hospital, New Lambton Heights, NSW, 2305, Australia.<br /><searchLink fieldCode="AU" term="%22Jackson+S%22">Jackson S</searchLink>; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, 3052, Australia.; Florey Department, The University of Melbourne, Melbourne, VIC, 3010, Australia.<br /><searchLink fieldCode="AU" term="%22Maltby+VE%22">Maltby VE</searchLink>; Department of Neurology, John Hunter Hospital, Newcastle, NSW, 2305, Australia.; School of Medicine and Public Health, The University of Newcastle, Newcastle, NSW, 2308, Australia.; Hunter Medical Research Institute, The University of Newcastle, Callaghan, NSW, 2305, Australia.<br /><searchLink fieldCode="AU" term="%22Charlesworth+JC%22">Charlesworth JC</searchLink>; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia.<br /><searchLink fieldCode="AU" term="%22Burdon+KP%22">Burdon KP</searchLink>; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia.<br /><searchLink fieldCode="AU" term="%22Taylor+BV%22">Taylor BV</searchLink>; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia.<br /><searchLink fieldCode="AU" term="%22Kilpatrick+TJ%22">Kilpatrick TJ</searchLink>; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, 3052, Australia.; Florey Department, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Neurology, Royal Melbourne Hospital, Melbourne, VIC, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Rubio+JP%22">Rubio JP</searchLink>; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, 3052, Australia. justin.rubio@florey.edu.au.; Florey Department, The University of Melbourne, Melbourne, VIC, 3010, Australia. justin.rubio@florey.edu.au.
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  Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2025 Dec 10; Vol. 17 (1), pp. 149. <i>Date of Electronic Publication: </i>2025 Dec 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE
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