Associated Papers
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
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG83
Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.
Ma Y et al.
Gene, 2025
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
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I et al.
Frontiers in Genetics, 2022
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
Select a paper to view details