Lista de obras -

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

scientific article published on 17 August 2018

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

artículo científico publicado en 2017

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

artículo científico publicado en 2012

Democratising Knowledge Representation with BioCypher

artículo científico publicado en 2022

Democratizing knowledge representation with BioCypher

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

artículo científico publicado en 2016

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

artículo científico publicado en 2013

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

artículo científico publicado en 2010

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

artículo científico

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

artículo científico publicado en 2015

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

artículo científico publicado en 2013

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

artículo científico publicado en 2014

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.