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Browsing publications by Dr Langping He

Newcastle AuthorsTitleYearFull text
Dr Francesco Bruni
Dr Langping He
Professor Robert Taylor
Professor Zofia Chrzanowska-Lightowlers
Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy2020
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 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
Dr Monika Olahova
Jack Collier
Dr Charlotte Alston
Dr Noel Edwards
Dr Langping He
et al.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease2019
Ruth Glasgow
Dr Steven Hardy
Gavin Falkous
Dr Langping He
Professor Robert Taylor
et al.
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement2019
Dr Kyle Thompson
Dr Monika Olahova
Dr Filippo Scialo
Dr Nichola Lax
Dr Fiona Robertson
et al.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect2018
Dr Langping He
Professor Robert Taylor
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency2018
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways2018
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