Associated Papers
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Lee EH et al.
Annals of Clinical and Translational Neurology, 2025
40368591 (PubMed )
Supplement: ACN3-12-1360-s001.pdf
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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M et al.
Brain : a Journal of Neurology, 2021
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