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Browsing publications by Dr Langping He

Newcastle AuthorsTitleYearFull text
Dr Monika Olahova
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency2025
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Professor Wyatt Yue
Professor Robert Taylor
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype2025
Lucie Taylor
Dr Langping He
Sila Hopton
Dr Angela Pyle
Professor Robert Taylor
COA5 has an essential role in the early stage of mitochondrial complex IV assembly2025
Sila Hopton
Dr Langping He
Dr Charlotte Alston
Professor Robert Taylor
Dr Ana Topf
et al.		Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland2025
Dr Kyle Thompson
Dr Langping He
Emerita Professor Zofia Chrzanowska-Lightowlers
Professor Robert Taylor
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease2023
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Thomas McCorvie
Professor Wyatt Yue
et al.		Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 542023
Dr Langping He
Professor Robert Taylor
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease2021
Dr Francesco Bruni
Dr Langping He
Professor Robert Taylor
Emerita Professor Zofia Chrzanowska-Lightowlers
Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy2020
Ahmad Alahmad
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Charlotte Alston
et al.		Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I2020
Dr Hannah Steele
Dr Angela Pyle
Sila Hopton
Jane Newman
Dr Renae Stefanetti
et al.		Metabolic effects of bezafibrate in mitochondrial disease.2020
Dr Charlotte Alston
Lucie Taylor
Dr Langping He
Sila Hopton
Professor Bobby McFarland
et al.		Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency2020
Dr Albert Lim
Karen Baty
Dr Langping He
Sila Hopton
Gavin Falkous
et al.		A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes2019
Dr Ewen Sommerville
Dr Francesco Bruni
Dr Kyle Thompson
Dr Mariana Rocha
Dr Langping He
et al.		Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance2019
Dr Ewen Sommerville
Dr Monika Olahova
Dr Angela Pyle
Dr Langping He
Professor Bobby McFarland
et al.		Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy2019
Dr Hannah Hayhurst
Charlotte Alston
Dr Kyle Thompson
Dr Langping He
Sila Hopton
et al.		Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis2019
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