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Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

artículo científico publicado en 2018

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

artículo científico publicado en 2015

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

scientific article published on 15 September 2019

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

artículo científico publicado en 2015

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

artículo científico publicado en 2018

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

artículo científico publicado en 2016

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

artículo científico publicado en 2016

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism

artículo científico

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

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