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
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
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