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Paper Details

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
23
2021
4-hydroxyphenylpyruvate, 4-hydroxyphenylpyruvate dioxygenase, HPDL, HPDL variants, HPPD, Human, Human 4-hydroxyphenylpyruvate dioxygenase-like, biallelic, developmental delays, heme, hereditary spastic paraplegia, homogentisate, hpdl, human, infantile-onset, iron, juvenile-, mitochondrial disease, neurological and respiratory decompensation, neurological disease, pure hereditary spastic paraplegia, spastic tetraplegia, spasticity, zebrafish, zebrafish hpdl
Author NameAffiliation
Tim M StromInstitute of Human Genetics, Technische Universitat Manchen
Kaya BilguvarYale University School of Medicine
Kaya BilguvarYale Center for Genome Analysis, Yale University
Alistair T PagnamentaUniversity of Oxford
Nicholas W WoodInstitute of Neurology, University College London
Nicholas W WoodThe National Hospital for Neurology and Neurosurgery
Nicholas W WoodInstitute of Neurology, University College London
Nicholas W WoodThe National Hospital for Neurology and Neurosurgery
Amy GoldsteinChildren's Hospital of Philadelphia
Amy GoldsteinPerelman School of Medicine, University of Pennsylvania
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Stephan Z??chnerDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine
Rita HorvathUniversity of Cambridge
Henry HouldenInstitute of Neurology, University College London
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Release 1.2