Associated Papers
Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.
Mäntylä S et al.
Acta Neuropathologica Communications, 2026
41508055 (PubMed )
Supplement: 40478_2025_2209_MOESM6_ESM.xlsx › Sheet1
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.
Hedberg-Oldfors C et al.
Brain Pathology (zurich, Switzerland), 2021
33354847 (PubMed )
Supplement: BPA-31-e12931-s001.pdf
Nuclear genome-wide associations with mitochondrial heteroplasmy.
Nandakumar P et al.
Science Advances, 2021
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wang W et al.
Nucleic Acids Research, 2011
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
Van Hove JL et al.
American Journal of Medical Genetics. Part A, 2009
The V368i mutation in Twinkle does not segregate with AdPEO.
Arenas J et al.
Annals of Neurology, 2003
Clinical and molecular features of adPEO due to mutations in the Twinkle gene.
Lewis S et al.
Journal of the Neurological Sciences, 2002
A novel clinical phenotype of myopathy, sensorimotor neuropathy, infertility, and hypogonadism with multiple mitochondrial DNA deletions.
Quigley A et al.
Journal of Clinical Neuromuscular Disease, 2001
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