Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
Lee Y et al.
Genes, 2021
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.
Hsieh PC et al.
Brain and Behavior, 2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
30755392 (PubMed )
Supplement: supp_mcs.a003756_Supplemental_Table_1.xlsx › S2._106_Clinical_cases_
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
POLG1-related levodopa-responsive parkinsonism.
Miguel R et al.
Clinical Neurology and Neurosurgery, 2014
Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
Ferreira M et al.
Neuromuscular Disorders : Nmd, 2011
Select a paper to view details