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
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
40208338 (PubMed )
Supplement: 439_2025_2744_MOESM3_ESM.xlsx › Foglio1
Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy".
Gál A et al.
Embo Molecular Medicine, 2023
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Gerber S et al.
Embo Molecular Medicine, 2023
MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.
Gal A et al.
Embo Molecular Medicine, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_3.xlsx › Sheet1
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
Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants.
Jiao Y et al.
Acta Neurologica Belgica, 2021
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S et al.
Acta Neuropathologica, 2019
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.
Schultz-Rogers L et al.
Cold Spring Harbor Molecular Case Studies, 2019
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Iwama K et al.
Journal of Human Genetics, 2018
MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.
Gal A et al.
Embo Molecular Medicine, 2017
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