Lista de obras -

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

artículo científico publicado en 2011

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.

artículo científico publicado en 2012

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

artículo científico publicado en 2002

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

artículo científico publicado en 2004

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

artículo científico publicado en 2012

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

artículo científico publicado en 2007

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

artículo científico publicado en 2014

Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations

artículo científico publicado en 2012

Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations

scientific article published on 09 July 2018

Mitochondrial DNA and survival after sepsis: a prospective study

scientific article published on 01 December 2005

Mitochondrial DNA disease: new options for prevention ⬇️

artículo científico publicado el 18 de agosto de 2011

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.

artículo científico publicado en 2017

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

artículo científico publicado en 2009

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

artículo científico publicado en 2015

Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach

artículo científico publicado en 2007

The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy

artículo científico publicado en 2002

Toward a mtDNA locus-specific mutation database using the LOVD platform

artículo científico publicado en 2012

What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

scientific article published on 27 August 2019

mtDNA mutations and common neurodegenerative disorders

artículo científico publicado en 2005

Lista de obras de

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations

Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations

Mitochondrial DNA and survival after sepsis: a prospective study

Mitochondrial DNA disease: new options for prevention ⬇️

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach

The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy

Toward a mtDNA locus-specific mutation database using the LOVD platform

What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

mtDNA mutations and common neurodegenerative disorders