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Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

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Title: Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Authors: Ghorbani F; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., de Boer-Bergsma J; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., Verschuuren-Bemelmans CC; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands., Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer EN; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., Kremer B; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands., Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., de Vries JJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands., van de Berg R; Department of Otorhinolaryngology and Head and Neck Surgery, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Diemen CC; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., Westers H; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Verbeek DS; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. d.s.verbeek@umcg.nl.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands. d.s.verbeek@umcg.nl.
Source: Journal of neurology [J Neurol] 2022 Nov; Vol. 269 (11), pp. 6086-6093. Date of Electronic Publication: 2022 Jul 21.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-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: Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
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  Data: <searchLink fieldCode="AU" term="%22Ghorbani+F%22">Ghorbani F</searchLink>; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer-Bergsma+J%22">de Boer-Bergsma J</searchLink>; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Verschuuren-Bemelmans+CC%22">Verschuuren-Bemelmans CC</searchLink>; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pennings+M%22">Pennings M</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer+EN%22">de Boer EN</searchLink>; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kremer+B%22">Kremer B</searchLink>; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vanhoutte+EK%22">Vanhoutte EK</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+JJ%22">de Vries JJ</searchLink>; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Berg+R%22">van de Berg R</searchLink>; Department of Otorhinolaryngology and Head and Neck Surgery, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kamsteeg+EJ%22">Kamsteeg EJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Diemen+CC%22">van Diemen CC</searchLink>; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Westers+H%22">Westers H</searchLink>; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Warrenburg+BP%22">van de Warrenburg BP</searchLink>; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Verbeek+DS%22">Verbeek DS</searchLink>; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. d.s.verbeek@umcg.nl.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands. d.s.verbeek@umcg.nl.
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  Data: <searchLink fieldCode="JN" term="%220423161%22">Journal of neurology</searchLink> [J Neurol] 2022 Nov; Vol. 269 (11), pp. 6086-6093. <i>Date of Electronic Publication: </i>2022 Jul 21.
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              Text: 2022 Nov
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