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Patrick Chinnery
Works
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
? TBD
scientific article published on 04 November 2021
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes
? TBD
scientific article published on 26 January 2007
Somatic mtDNA variation is an important component of Parkinson's disease
? TBD
scientific article published on 6 November 2015
The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages.
? TBD
scientific article published on 17 October 2016
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
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scientific article published in July 2010
A high frequency of mtDNA polymorphisms in HeLa cell sublines
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scientific article published in April 2002
Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility
? TBD
scientific article
Titinopathy in a Canadian family sharing the British founder haplotype
? TBD
scientific article published in January 2014
Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS—A multicentre case–control study
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scientific article published on 27 January 2025
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
? TBD
scientific article
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
? TBD
scientific article published on 12 August 2020
Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains
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scientific article
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains
? TBD
scientific article published on 02 February 2017
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
? TBD
scientific article published on 01 May 2022