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. |
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| 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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| ISSN: | 1432-1459 |
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| DOI: | 10.1007/s00415-022-11275-9 |
