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Paper Details

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
0
2023
UCHL1, ataxia, neurodegenerative disorder, neuropathy, optic atrophy, spasticity
Author NameAffiliation
Valentina CiprianiWilliam Harvey Research Institute, Queen Mary University of London, United Kingdom UCL Institute of Ophthalmology, University College London, United Kingdom Moorfields Eye Hospital NHS Foundation Trust, United Kingdom UCL Genetics Institute
Ana VelicUniversity of Tubingen
Patrick F ChinneryUniversity of Cambridge
Andrea H N??methUniversity of Oxford, Oxford University Hospitals NHS Trust
Nicholas W WoodUCL Queen Square Institute of Neurology, University College London
Nicholas W WoodUCL Queen Square Institute of Neurology, University College London
Tim M StromInstitute of Human Genetics, Technische Universitat Munchen, Germany Institute of Human Genetics
Boris Ma??ekUniversity of Tubingen
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tubingen
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London
Henry HouldenWilliam Harvey Research Institute, Queen Mary University of London
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