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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.
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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  Data: A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.
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  Data: <searchLink fieldCode="AU" term="%22Bhattacharjee+S%22">Bhattacharjee S</searchLink>; Department of Neurology, Queen Elizabeth Hospital, Mindelsohn Way, Birmingham, B15 2GW, UK. bubai.shakya@gmail.com.<br /><searchLink fieldCode="AU" term="%22Lenassi+E%22">Lenassi E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schaefer+AM%22">Schaefer AM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ealing+J%22">Ealing J</searchLink>; Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Salford, M6 8HD, UK.<br /><searchLink fieldCode="AU" term="%22Kobylecki+C%22">Kobylecki C</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220423161%22">Journal of neurology</searchLink> [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 17. <i>Date of Electronic Publication: </i>2024 Dec 12.
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        Value: 10.1007/s00415-024-12778-3
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              Text: 2024 Dec 12
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