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A national perspective on prenatal testing for mitochondrial disease

artículo científico publicado en 2014

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

artículo científico publicado en 2012

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

artículo científico publicado en 2020

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

scientific article published on 17 August 2016

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

artículo científico publicado en 2013

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

EMQN best practice guidelines for genetic testing in dystrophinopathies

scientific article published on 18 May 2020

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

artículo científico publicado en 2016

Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation ⬇️

artículo científico publicado el 11 de noviembre de 2012

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 08 April 2020

OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy

artículo científico publicado en 2022

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

artículo científico publicado en 2019

Retrospective natural history of thymidine kinase 2 deficiency.

artículo científico publicado en 2018

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

artículo científico publicado en 2016

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

artículo científico publicado en 2016

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

scientific article published on 29 August 2019

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