Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
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
Polydatin and Nicotinamide Prevent Iron Accumulation and Lipid Peroxidation in Cellular Models of Mitochondrial Diseases.
Cilleros-Holgado P et al.
Antioxidants (basel, Switzerland), 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation.
Cilleros-Holgado P et al.
Biomolecules, 2024
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review.
Aleksic D et al.
The Turkish Journal of Pediatrics, 2023
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases.
Suárez-Rivero JM et al.
Orphanet Journal of Rare Diseases, 2022
Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.
Molina-Berenguer M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S et al.
Clinical Chemistry, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 2021
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
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.
Zurita-Díaz F et al.
Stem Cell Research, 2016
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
Toward genotype phenotype correlations in GFM1 mutations.
Galmiche L et al.
Mitochondrion, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012