Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.
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| Title: | Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model. |
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| Authors: | Buhl E; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK., Garg S; Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Monaghan M; Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Preston A; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK., Likeman M; Department of Paediatric Neuroradiology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Dare J; Department of Community Paediatrics, Community Children's Health Partnership, Kingswood Locality Hub, Bristol, UK., Evans J; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK., Taylor LS; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Berry I; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK., Urankar K; Department of Neuropathology, North Bristol Hospital NHS Foundation Trust, Bristol, UK., Spry PGD; Department of Paediatric Ophthalmology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Williams C; Department of Paediatric Ophthalmology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Hodge JJL; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK., Majumdar A; Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. |
| Source: | Clinical genetics [Clin Genet] 2025 Sep; Vol. 108 (3), pp. 266-278. Date of Electronic Publication: 2025 Apr 10. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14745 |
