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Modulating heteroplasmy
2002
Trends in Genetics
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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
2003
Practical Neurology
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Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations
2014
Brain
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Newcastle University ePrints -eprint.ncl.ac.uk 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
2013
Brain
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One complex world of mitochondrial parkinsonism
2013
Brain
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However, in the long term, this mechanism leads to the inevitable amplification of mutant species, the loss of wild-type genomes, and the subsequent respiratory chain defect (Chinnery and Samuels, 1999 ...
doi:10.1093/brain/awt199
pmid:23884808
pmcid:PMC3722358
fatcat:chntkfgkmjah7muzbhcmdy2u5y
Mitochondrial disease: mimics and chameleons
2015
Practical Neurology
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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
2015
Neurology
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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
2011
Taiwan Journal of Ophthalmology
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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
2014
Brain
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) 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?
2013
Cell Metabolism
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Diagnosis and treatment of mitochondrial myopathies
2011
Annals of Medicine
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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
doi:10.3109/07853890.2011.605389
pmid:21867371
pmcid:PMC3581062
fatcat:lrz4wofb4bf6jee5mjcnsul6yq
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... opathies. Emphasis is placed on practical management considerations while including some recent updates in the fi eld.
Emerging therapies for mitochondrial disorders
2016
Brain
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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.,
2017
Acta Neuropathologica Communications
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Nuclear-mitochondrial proteins: too much to process?: Figure 1
2015
Brain
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Mitochondrial DNA polymerase-γ and human disease
2006
Human Molecular Genetics
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C (S680T) (Hudson and Chinnery, unpublished data). ...
doi:10.1093/hmg/ddl233
pmid:16987890
fatcat:tyyqztocbrbdjnr6llnpvwjizu
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