Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy

Prevalence of nuclear and mitochondrial <scp>DNA</scp> mutations related to adult mitochondrial disease

Gráinne S. Gorman, Andrew M. Schaefer, Yi Shiau Ng et al. · Annals of Neurology · 2015 · 943 citations · Full text

Life Sciences, Genetics, Neurology +13

[Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years].

Hui Li, Cheng-ye Ji, Xinnan Zong et al. · PubMed · 2009 · 455 citations

Public Health, Child Health, Pediatrics +17

MSTO1 is a cytoplasmic pro‐mitochondrial fusion protein

Anikó Gál, Péter Balicza, David Weaver et al. · EMBO Molecular Medicine · 2017 · 64 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15

Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Alessia Nasca, C. Scotton, Irina Zaharieva et al. · Human Mutation · 2017 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome

Valentina Grande, Francesca Ornaghi, Liliana Comerio et al. · Human Molecular Genetics · 2018 · 52 citations · Full text

Life Sciences, Neurology, Neuroscience +17