Associated Papers
Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy.
Shi G et al.
Nature, 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
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
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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