Associated Papers
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Thompson K et al.
American Journal of Human Genetics, 2016
27693233 (PubMed )
Supplement: mmc1.pdf
Impaired transport of nucleotides in a mitochondrial carrier explains severe human genetic diseases.
Ravaud S et al.
Acs Chemical Biology, 2012
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