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Browsing publications by Dr Langping He

Newcastle AuthorsTitleYearFull text
Dr Ewen Sommerville
Dr Yi Ng
Charlotte Alston
Dr Langping He
Charlotte Knowles
et al.
Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy2017
Dr Emma Watson
Dr Langping He
Professor Robert Taylor
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism2017
Charlotte Alston
Dr Monika Olahova
Dr Steven Hardy
Dr Langping He
Professor Robert Taylor
et al.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype2016
Charlotte Alston
Dr Monika Olahova
Dr John Yarham
Dr Langping He
Professor Robert Taylor
et al.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype2016
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: A case report2016
Dr Langping He
Dr Matt Bates
Professor Robert Taylor
Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure2016
Dr Kyle Thompson
Charlotte Alston
Dr Langping He
Dr Angela Pyle
Dr Helen Griffin
et al.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies2016
Dr Kyle Thompson
Charlotte Alston
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
et al.
Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number2016
Dr Monika Olahova
Dr Steven Hardy
Dr John Yarham
William Wilson
Charlotte Alston
et al.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population2015
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
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