Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYearFull text
Dr Patrick Yu Wai Man
Dr Holly Duncan
Dr Joseph Guadagno
Professor Patrick Chinnery
A multiple sclerosis-like disorder in patients with OPA1 mutations2016
Dr Hannah Steele
Dr Lizzie Harris
Dr Rita Barresi
Dr John Bourke
Professor Volker Straub
et al.
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study2016
Professor Patrick Chinnery
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency2016
Dr Grant Guthrie
Dr Gerald Pfeffer
Andrew Browning
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia (vol 260, pg 906, 2013)2016
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 Lili Zhu
Dr Aurora Gomez Duran
Dr Gabriele Saretzki
Dr Katarzyna Tilgner
Dario Melguizo Sanchis
et al.
The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages2016
Dr Gerald Pfeffer
Dr Angela Pyle
Dr Helen Griffin
Valerie Wilson
Dr Lisa Turnbull
et al.
SPG7 mutations are a common cause of undiagnosed ataxia2015
Joanna Rorbach
Charlotte Alston
Dr Helen Griffin
Dr Angela Pyle
Professor Patrick Chinnery
et al.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies2015
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
Dr Vasileios Floros
Professor Patrick Chinnery
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development2015
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