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Publications

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

Acetyl-Leucine slows disease progression in lysosomal storage disorders

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.

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

The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study

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.

Xu J. et al, (2019), The Analyst

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