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A HIF1A variant impacts long-term disability and smoldering inflammation in multiple sclerosis.

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Title: A HIF1A variant impacts long-term disability and smoldering inflammation in multiple sclerosis.
Authors: Giordano A; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Stridh P; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Preziosa P; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy., Pisa M; Academic Unit of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Lerma-Martin C; Department of Neurology, Division of Neuroimmunology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Sorosina M; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy., Mascia E; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy., Santoro S; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy., Misra K; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy., Clarelli F; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy., Ferrè L; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy., Needhamsen M; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Manouchehrinia A; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Missaglia M; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Moridi T; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Shchetynsky K; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Ouellette R; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden., Harroud A; The Neuro (Montreal Neurological Institute-Hospital), Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada., de Vries E; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden., Kuttikkatte SB; Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Piehl F; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Alfredsson L; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden., Hillert J; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Olsson T; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Fugger L; MRC Human Immunology Unit, University of Oxford, Oxford, UK.; Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Attfield K; Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Granberg T; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden., Schirmer L; Department of Neurology, Division of Neuroimmunology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Absinta M; Experimental Neuropathology Lab, IRCCS Humanitas Research Hospital, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Milan, Italy., Jagodic M; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., DeLuca GC; Academic Unit of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Rocca MA; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy., Filippi M; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy., Kockum I; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Esposito F; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy. esposito.federica@hsr.it.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy. esposito.federica@hsr.it.
Source: Acta neuropathologica [Acta Neuropathol] 2026 Feb 04; Vol. 151 (1), pp. 12. Date of Electronic Publication: 2026 Feb 04.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A HIF1A variant impacts long-term disability and smoldering inflammation in multiple sclerosis.
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  Data: <searchLink fieldCode="AU" term="%22Giordano+A%22">Giordano A</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Stridh+P%22">Stridh P</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Preziosa+P%22">Preziosa P</searchLink>; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pisa+M%22">Pisa M</searchLink>; Academic Unit of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Lerma-Martin+C%22">Lerma-Martin C</searchLink>; Department of Neurology, Division of Neuroimmunology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.<br /><searchLink fieldCode="AU" term="%22Sorosina+M%22">Sorosina M</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Mascia+E%22">Mascia E</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Santoro+S%22">Santoro S</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Misra+K%22">Misra K</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Clarelli+F%22">Clarelli F</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ferrè+L%22">Ferrè L</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Needhamsen+M%22">Needhamsen M</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Manouchehrinia+A%22">Manouchehrinia A</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Missaglia+M%22">Missaglia M</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Moridi+T%22">Moridi T</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Shchetynsky+K%22">Shchetynsky K</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Ouellette+R%22">Ouellette R</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Harroud+A%22">Harroud A</searchLink>; The Neuro (Montreal Neurological Institute-Hospital), Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22de+Vries+E%22">de Vries E</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Kuttikkatte+SB%22">Kuttikkatte SB</searchLink>; Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Piehl+F%22">Piehl F</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Alfredsson+L%22">Alfredsson L</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Hillert+J%22">Hillert J</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Olsson+T%22">Olsson T</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Fugger+L%22">Fugger L</searchLink>; MRC Human Immunology Unit, University of Oxford, Oxford, UK.; Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Attfield+K%22">Attfield K</searchLink>; Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Granberg+T%22">Granberg T</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Schirmer+L%22">Schirmer L</searchLink>; Department of Neurology, Division of Neuroimmunology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.<br /><searchLink fieldCode="AU" term="%22Absinta+M%22">Absinta M</searchLink>; Experimental Neuropathology Lab, IRCCS Humanitas Research Hospital, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Jagodic+M%22">Jagodic M</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22DeLuca+GC%22">DeLuca GC</searchLink>; Academic Unit of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Rocca+MA%22">Rocca MA</searchLink>; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Filippi+M%22">Filippi M</searchLink>; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Kockum+I%22">Kockum I</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Esposito+F%22">Esposito F</searchLink>; Human Genetics of Neurological Disorders, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy. esposito.federica@hsr.it.; Unit of Neurology and MS Center, IRCCS San Raffaele Hospital, Milan, Italy. esposito.federica@hsr.it.
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