Associated Papers
Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.
Liu Y et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
38685113 (PubMed )
Supplement: 40246_2024_604_MOESM1_ESM.xlsx › Table_S1
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37577678 (PubMed )
Supplement: media-1.xlsx › Table_S1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia.
Chen J et al.
Frontiers in Neurology, 2022
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.
Nasca A et al.
Journal of Human Genetics, 2021
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S et al.
Acta Neuropathologica, 2019
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