Zahra Assouline
Paris, France
Last Updated: 09/26/2026
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Found 34 publications
TTC19-related mitochondrial disease: A characteristic neuroimaging signature?
Journal: Molecular genetics and metabolism
Published: June 02, 2026
Childhood POLG-related disorders: Focus on polyradiculoneuropathy.
Journal: Molecular genetics and metabolism
Published: June 10, 2025
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies.
Journal: Molecular genetics and metabolism reports
Published: March 30, 2025
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Journal: Pediatric nephrology (Berlin, Germany)
Published: February 20, 2025
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Journal: European journal of human genetics : EJHG
Published: May 15, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Journal: Neurology. Genetics
Published: December 04, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Journal: Life (Basel, Switzerland)
Published: November 30, 2022
Improving post-natal detection of mitochondrial DNA mutations.
Journal: Expert review of molecular diagnostics
Published: September 09, 2020
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Journal: Haematologica
Published: August 28, 2020
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 01, 2020
Last Updated: 09/26/2026