Associated Papers
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Lee EH et al.
Annals of Clinical and Translational Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG83
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
Kojima F et al.
Neurogenetics, 2024
Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I et al.
Frontiers in Genetics, 2022
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Ghosh SG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.
Zhang W et al.
Cancer Medicine, 2019
30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11
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