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Modulating heteroplasmy

Patrick F. Chinnery
2002 Trends in Genetics  
Modulating heteroplasmy Patrick F.  ...  Chinnery Patients with mitochondrial DNA (mtDNA) disease usually harbor a mixture of mutant and wild-type mtDNA (a state termed heteroplasmy), and the clinical features of the disease depend on the percentage  ... 
doi:10.1016/s0168-9525(01)02636-1 pmid:11932010 fatcat:a6ugz3zhi5agtbqs67hf2alipu

The Mitochondrion and its Disorders

Patrick F. Chinnery
2003 Practical Neurology  
doi:10.1046/j.1474-7766.2003.09117.x fatcat:tilef7jhavdcxng562xfh2ye4e

Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations

Patrick Yu-Wai-Man, Patrick F. Chinnery
2014 Brain  
Newcastle University ePrints Yu-Wai-Man P, Chinnery PF. Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations. Brain 2015, 138(1), e322.  ...  diverging genotypes and phenotypes in a disorder that has until recently been viewed as being limited to the optic nerve with a straightforward autosomal dominant mode of inheritance (Yu-Wai-Man and Chinnery  ... 
doi:10.1093/brain/awu235 pmid:25146915 pmcid:PMC4285186 fatcat:rphxsitkerfhdeyrx2dp5rnkqe

Reply: Sensorineural hearing loss in OPA1-linked disorders

Patrick Yu-Wai-Man, Patrick F. Chinnery
2013 Brain  
doi:10.1093/brain/aws341 pmid:23650221 pmcid:PMC3692041 fatcat:n6hwmn5lfneincnv4foytl2yum

Mitochondrial disease: mimics and chameleons

Mika H Martikainen, Patrick F Chinnery
2015 Practical Neurology  
Photos courtesy of Mr Patrick Yu-Wai-Man. REVIEW Martikainen MH, Chinnery PF.  ...  (A-C) The first episode; (D-F) the second episode. Note that the hyperintense changes in temporal, parietal and occipital lobes do not conform to the vascular territories.  ... 
doi:10.1136/practneurol-2015-001191 pmid:26201977 fatcat:4qglwthu7vhxpdvcsavou5yfia

Prevalence of neurogenetic disorders in the North of England

David Bargiela, Patrick Yu-Wai-Man, Michael Keogh, Rita Horvath, Patrick F. Chinnery
2015 Neurology  
Patrick Chinnery: drafting/ revising the manuscript, study concept or design, analysis or interpretation of data, accepts responsibility for conduct of research and will give final approval, study supervision  ...  Patrick Yu-Wai-Man: drafting/revising the manuscript, analysis or interpretation of data, accepts responsibility for conduct of research and will give final approval, acquisition of data.  ... 
doi:10.1212/wnl.0000000000001995 pmid:26341866 pmcid:PMC4607600 fatcat:xmg5xxvqovcndhljmq5ikikdyy

Leber hereditary optic neuropathy – Therapeutic challenges and early promise

Patrick Yu-Wai-Man, Patrick F. Chinnery
2011 Taiwan Journal of Ophthalmology  
Chinnery / Taiwan Journal of Ophthalmology 1 (2011) 12e15  ... 
doi:10.1016/j.tjo.2011.09.001 pmid:25729642 pmcid:PMC4340545 fatcat:3l5oqkuxnnewjmxyh2evvhpy3q

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Patrick Yu-Wai-Man, Patrick F. Chinnery
2014 Brain  
) is the most commonly diagnosed inherited optic neuropathy in clinical practice and the majority of patients harbour pathogenic mutations within the OPA1 gene (3q28-q29, OMIM 165500) (Yu-Wai-Man and Chinnery  ...  classical Behr's syndrome who were eventually found to carry a single heterozygous pathogenic OPA1 mutation (c.1652G4A, p.Cys551Tyr) within the catalytic GTPase domain (Marelli et al., 2011; Yu-Wai-Man and Chinnery  ... 
doi:10.1093/brain/awu187 pmid:25012222 pmcid:PMC4163031 fatcat:de3iuhw65be25pavkttvaeq2jq

Hereditary mtDNA Heteroplasmy: A Baseline for Aging?

Michael Keogh, Patrick F. Chinnery
2013 Cell Metabolism  
doi:10.1016/j.cmet.2013.09.015 pmid:24093673 fatcat:pcqnci4voffrnjl7ha3kbydhfy

Diagnosis and treatment of mitochondrial myopathies

Gerald Pfeffer, Patrick F. Chinnery
2011 Annals of Medicine  
Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of these disorders, although this may be overshadowed by central neurological features. This review is aimed at a general medical and neurologist readership and provides a clinical approach to the recognition, investigation, and treatment of mitochondrial
more » ... opathies. Emphasis is placed on practical management considerations while including some recent updates in the fi eld.
doi:10.3109/07853890.2011.605389 pmid:21867371 pmcid:PMC3581062 fatcat:lrz4wofb4bf6jee5mjcnsul6yq

Emerging therapies for mitochondrial disorders

Helen Nightingale, Gerald Pfeffer, David Bargiela, Rita Horvath, Patrick F. Chinnery
2016 Brain  
Pathogenic mtDNA mutations often cause a subset of classical mitochondrial clinical syndromes (Chinnery and Hudson, 2013) .  ...  These include an emerging myriad of nuclear encoded mitochondrial disorders caused by mutations in some of the 1500 nuclear genes thought to code for mitochondrial proteins (Chinnery and Hudson, 2013)  ... 
doi:10.1093/brain/aww081 pmid:27190030 pmcid:PMC4892756 fatcat:h63gnd7xu5b7rot4iffeep5gke

Response to Simon et al.,

Wei Wei, Michael J. Keogh, James W. Ironside, Patrick F. Chinnery
2017 Acta Neuropathologica Communications  
doi:10.1186/s40478-017-0434-8 pmid:28454558 pmcid:PMC5410018 fatcat:iurbr2d6ljcd5odlh43qugeay4
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