Samira Saadi-Mkadem

Nice, France

Last Updated: 09/26/2026

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Found 11 publications

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Journal: Neurology

Published: January 15, 2026

Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.

Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.

Journal: Mitochondrion

Published: November 15, 2025

Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce.

Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce.

Journal: Briefings in bioinformatics

Published: June 18, 2025

A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

Journal: International journal of molecular sciences

Published: June 13, 2025

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Journal: Annals of clinical and translational neurology

Published: February 26, 2024

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

Journal: Genes

Published: November 08, 2023

UQCRC2-related mitochondrial complex III deficiency, about 7 patients.

UQCRC2-related mitochondrial complex III deficiency, about 7 patients.

Journal: Mitochondrion

Published: July 10, 2022

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

Journal: European journal of medical genetics

Published: April 28, 2022

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Journal: EMBO molecular medicine

Published: April 04, 2022

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

Journal: International journal of molecular sciences

Published: September 14, 2021

ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data.

ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data.

Journal: Bioinformatics (Oxford, England)

Published: July 12, 2021

Showing 1-11 of 11

Last Updated: 09/26/2026