Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
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| Title: | Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. |
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| Authors: | Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Novis LE; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil., Koutsis G; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece., Koniari C; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Turchetti V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Velonakis G; 2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece., Vasconcellos LF; Institute of Neurology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil., Raskin S; Genetika Laboratoty, Curitiba, Paraná, Brazil., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Arun YB; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Kinhal UV; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Teive HAG; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. |
| Source: | Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Oct; Vol. 10 (10), pp. 1910-1916. Date of Electronic Publication: 2023 Aug 08. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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