A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.
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| Title: | A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course. |
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| Authors: | Bhattacharjee S; Department of Neurology, Queen Elizabeth Hospital, Mindelsohn Way, Birmingham, B15 2GW, UK. bubai.shakya@gmail.com., Lenassi E; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9NT, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK., Schaefer AM; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK., Ealing J; Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Salford, M6 8HD, UK., Kobylecki C; Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Salford, M6 8HD, UK.; Division of Neuroscience, Faculty of Biology, Medicine and Health, School of Biological Sciences, The University of Manchester, Manchester, M13 9PT, UK. |
| Source: | Journal of neurology [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 17. Date of Electronic Publication: 2024 Dec 12. |
| Publication Type: | Letter |
| 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; In Process |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1459 |
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| DOI: | 10.1007/s00415-024-12778-3 |
