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Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study.

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Title: Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study.
Authors: Dupré M; Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, 59 Boulevard Pinel, 69500, Bron, France., Hermann R; Lyon Neuroscience Research Center, INSERM 1028 and CNRS UMR5292, 69675, Bron, France.; Université Claude Bernard Lyon 1, 69100, Villeurbanne, France., Vidoni L; Molecular Neurogenetics Unit, Biochemistry and Molecular Biology DepartmentCentre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500, Bron, France., Quadrio I; Molecular Neurogenetics Unit, Biochemistry and Molecular Biology DepartmentCentre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500, Bron, France., Latour P; Molecular Neurogenetics Unit, Biochemistry and Molecular Biology DepartmentCentre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500, Bron, France., Subtil F; Biostatistics Department, Hospices Civils de Lyon, 69003, Lyon, France.; UMR 5558, CNRS, Université Claude Bernard Lyon 1, 69100, Villeurbanne, France., Froment Tilikete C; Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, 59 Boulevard Pinel, 69500, Bron, France. caroline.froment01@chu-lyon.fr.; Lyon Neuroscience Research Center, INSERM 1028 and CNRS UMR5292, 69675, Bron, France. caroline.froment01@chu-lyon.fr.; Université Claude Bernard Lyon 1, 69100, Villeurbanne, France. caroline.froment01@chu-lyon.fr.
Source: Journal of neurology [J Neurol] 2025 Jun 03; Vol. 272 (6), pp. 442. Date of Electronic Publication: 2025 Jun 03.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study.
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  Data: <searchLink fieldCode="AU" term="%22Dupré+M%22">Dupré M</searchLink>; Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, 59 Boulevard Pinel, 69500, Bron, France.<br /><searchLink fieldCode="AU" term="%22Hermann+R%22">Hermann R</searchLink>; Lyon Neuroscience Research Center, INSERM 1028 and CNRS UMR5292, 69675, Bron, France.; Université Claude Bernard Lyon 1, 69100, Villeurbanne, France.<br /><searchLink fieldCode="AU" term="%22Vidoni+L%22">Vidoni L</searchLink>; Molecular Neurogenetics Unit, Biochemistry and Molecular Biology DepartmentCentre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500, Bron, France.<br /><searchLink fieldCode="AU" term="%22Quadrio+I%22">Quadrio I</searchLink>; Molecular Neurogenetics Unit, Biochemistry and Molecular Biology DepartmentCentre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500, Bron, France.<br /><searchLink fieldCode="AU" term="%22Latour+P%22">Latour P</searchLink>; Molecular Neurogenetics Unit, Biochemistry and Molecular Biology DepartmentCentre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500, Bron, France.<br /><searchLink fieldCode="AU" term="%22Subtil+F%22">Subtil F</searchLink>; Biostatistics Department, Hospices Civils de Lyon, 69003, Lyon, France.; UMR 5558, CNRS, Université Claude Bernard Lyon 1, 69100, Villeurbanne, France.<br /><searchLink fieldCode="AU" term="%22Froment+Tilikete+C%22">Froment Tilikete C</searchLink>; Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, 59 Boulevard Pinel, 69500, Bron, France. caroline.froment01@chu-lyon.fr.; Lyon Neuroscience Research Center, INSERM 1028 and CNRS UMR5292, 69675, Bron, France. caroline.froment01@chu-lyon.fr.; Université Claude Bernard Lyon 1, 69100, Villeurbanne, France. caroline.froment01@chu-lyon.fr.
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              Text: 2025 Jun 03
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