Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
Dombi E. et al, (2024), Front Cell Dev Biol, 12
The contribution of X-linked coding variation to severe developmental disorders
Martin HC. et al, (2021), Nature Communications, 12
Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.
Spath K. et al, (2021), Fertil Steril
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
Klionsky DJ. et al, (2021), Autophagy, 1 - 382
Acetyl-leucine slows disease progression in lysosomal storage disorders
Kaya E. et al, (2021), Brain Communications, 3
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Klionsky DJ. et al, (2021), Autophagy, 17, 1 - 382
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D. et al, (2020), EMBO J, 39
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Catarino CB. et al, (2020), J Neuroophthalmol, 40, 558 - 565
Loss of CHCHD2 and CHCHD10 Activates Oma1 Peptidase to Disrupt Mitochondrial Cristae Phenocopying Patient Mutations
Narendra D. et al, (2020), ANNALS OF NEUROLOGY, 88, S215 - S215
Loss of CHCHD2 and CHCHD10 disrupts mitochondrial cristae phenocopying patient mutations
Narendra D. et al, (2020), MOVEMENT DISORDERS, 35, S228 - S228
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.
Liu Y-T. et al, (2020), Hum Mol Genet, 29, 1547 - 1567
Unbiased Yeast Screens Identify Cellular Pathways Affected in Niemann-Pick Disease Type C
PLATT F., (2020), Life Science Alliance
Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report.
Li MCH. et al, (2020), Seizure, 76, 153 - 155
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Kaplanis J. et al, (2020), Nature
Insights into pancreatic β cell energy metabolism using rodent β cell models
Morten KJ. et al, (2019), Wellcome Open Research, 2, 14 - 14
243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019
Poulton J. et al, (2019), Neuromuscular Disorders, 29, 725 - 733
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng YS. et al, (2019), Ann Neurol, 86, 310 - 315
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Mastantuono E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 169 - 169