The contribution of X-linked coding variation to severe developmental disorders
Journal article
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.
Journal article
Spath K. et al, (2021), Fertil Steril
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
Journal article
Klionsky DJ. et al, (2021), Autophagy, 1 - 382
Acetyl-leucine slows disease progression in lysosomal storage disorders
Journal article
Kaya E. et al, (2021), Brain Communications, 3
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Journal article
Klionsky DJ. et al, (2021), Autophagy, 17, 1 - 382
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Journal article
Hathazi D. et al, (2020), EMBO J, 39
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Journal article
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
Conference paper
Narendra D. et al, (2020), ANNALS OF NEUROLOGY, 88, S215 - S215
Loss of CHCHD2 and CHCHD10 disrupts mitochondrial cristae phenocopying patient mutations
Conference paper
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.
Journal article
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
Journal article
PLATT F., (2020), Life Science Alliance
Acetyl-Leucine slows disease progression in lysosomal storage disorders
Conference paper
Bremova-Ertl T. et al, (2020), EUROPEAN JOURNAL OF NEUROLOGY, 27, 181 - 181
Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report.
Journal article
Li MCH. et al, (2020), Seizure, 76, 153 - 155
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Journal article
Kaplanis J. et al, (2020), Nature
Insights into pancreatic β cell energy metabolism using rodent β cell models
Journal article
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
Journal article
Poulton J. et al, (2019), Neuromuscular Disorders, 29, 725 - 733
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Journal article
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?
Conference paper
Mastantuono E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 169 - 169
The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study
Conference paper
Ng YS. et al, (2019), EUROPEAN JOURNAL OF NEUROLOGY, 26, 1007 - 1008
Correction: A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy.
Journal article
Xu J. et al, (2019), The Analyst