Samira Mkadem-El

Nice, France

Last Updated: 09/26/2026

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Found 23 publications

Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives.

Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives.

Journal: Frontiers in molecular biosciences
Published: August 03, 2020

NDUFS6 related Leigh syndrome: a case report and review of the literature.

NDUFS6 related Leigh syndrome: a case report and review of the literature.

Journal: Journal of human genetics
Published: October 14, 2018

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.

Journal: Neurology. Genetics
Published: March 16, 2018

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

Journal: BMC medical genetics
Published: October 25, 2017

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Journal: Human molecular genetics
Published: May 06, 2017

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Journal: Human molecular genetics
Published: January 03, 2017

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Journal: American journal of human genetics
Published: June 21, 2016

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Journal: Neuromuscular disorders : NMD
Published: May 09, 2016

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Journal: Brain : a journal of neurology
Published: January 01, 2016

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.

Journal: Biological research
Published: September 24, 2015

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Journal: Annals of neurology
Published: June 23, 2015

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Journal: Brain : a journal of neurology
Published: May 09, 2015
Showing 1-12 of 23

Last Updated: 09/26/2026