Associated Papers
Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.
Ahmad B et al.
International Journal of Biological Macromolecules, 2025
Clinical and molecular findings in a family expressing a novel heterozygous variant of the G elongation factor mitochondrial 1 gene.
Su C et al.
Experimental and Therapeutic Medicine, 2020
[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].
Shen Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2020
A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.
You C et al.
Brain and Behavior, 2020
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.
Ravn K et al.
Molecular Genetics and Metabolism Reports, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Brito S et al.
Frontiers in Genetics, 2015
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.
Balasubramaniam S et al.
Jimd Reports, 2012
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