Associated Papers
Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.
Baggiani M et al.
Cell Death & Disease, 2026
Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.
Besen S et al.
Children (basel, Switzerland), 2025
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Lee EH et al.
Annals of Clinical and Translational Neurology, 2025
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Alecu JE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.
Numata-Uematsu Y et al.
Molecular Genetics and Metabolism Reports, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M et al.
Brain : a Journal of Neurology, 2021
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
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Morgan NV et al.
Brain Communications, 2021
Select a paper to view details