Associated Papers
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A et al.
Journal of Inherited Metabolic Disease, 2018
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I et al.
American Journal of Medical Genetics. Part A, 2018
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2018
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Edvardson S et al.
Journal of Medical Genetics, 2013
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A et al.
Journal of Neuromuscular Diseases, 0
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