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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
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
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Barcia G et al.
Human Mutation, 2020
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
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
The effect of small molecules on nuclear-encoded translation diseases.
Soiferman D et al.
Biochimie, 2014
Toward genotype phenotype correlations in GFM1 mutations.
Galmiche L et al.
Mitochondrion, 2012
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