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Journal of Human Genetics|April 6, 2019
NDUFS6 related Leigh syndrome: a case report and review of the literatureCécile Rouzier, Annabelle Chaussenot, Konstantina Fragaki, et al.
Biological Research|January 9, 2016
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexesKonstantina Fragaki, Annabelle Chaussenot, Jean-François Benoist, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 8, 2007
Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infantsKatharina Mosler, Christelle Coraux, Konstantina Fragaki, et al.
Mitochondrion|February 19, 2011
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemiaKonstantina Fragaki, Aline Cano, Jean-François Benoist, et al.
Mitochondrion|July 1, 2009
A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b geneKonstantina Fragaki, Vincent Procaccio, Sylvie Bannwarth, et al.
Neuromuscular Disorders : NMD|November 7, 2016
A new mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with early-onset neuromuscular phenotype and ragged-red fibersGodelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, et al.
European Journal of Medical Genetics|October 17, 2022
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variabilitySamira Ait-El-Mkadem Saadi, Elsa Kaphan, Amaya Morales Jaurrieta, et al.
Brain : a Journal of Neurology|December 23, 2011
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotypeCécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, et al.
European Journal of Human Genetics : EJHG|September 20, 2012
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiencyKonstantina Fragaki, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al.
Brain : a Journal of Neurology|June 3, 2022
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viabilityEmmanuelle C Genin, Sylvie Bannwarth, Baptiste Ropert, et al.
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