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Paper Details

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Eur J Hum Genet
8
2020
HSP, HSP families, Hereditary spastic paraplegia, UBAP1, UBAP1 mutations, hereditary spastic paraplegia, inherited degenerative disorders, learning difficulties, lower limb spasticity, parkinsonism, patients
Author NameAffiliation
Damian SmedleyWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Valentina CiprianiWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Patrick F ChinnerySchool of Clinical Medicine, University of Cambridge
Patrick F ChinneryMedical Research Council Mitochondrial Biology Unit, University of Cambridge
Huw R MorrisUCL Institute of Neurology
Nicholas W WoodUCL Institute of Neurology
Nicholas W WoodUCL Institute of Neurology
Jana VandrovcovaUCL Institute of Neurology
Henry HouldenUCL Institute of Neurology
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