Claude G. Jardel

Paris, France

Last Updated: 09/26/2026

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Found 44 publications

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.

Journal: Molecular syndromology

Published: September 22, 2021

Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.

Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: February 12, 2021

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 27, 2020

Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.

Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.

Journal: Mitochondrion

Published: May 13, 2020

Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.

Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.

Journal: Annales d'endocrinologie

Published: April 08, 2020

Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia "SMANDO" in a consanguineous Moroccan patient with new POLG gene homozygote mutation.

Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia "SMANDO" in a consanguineous Moroccan patient with new POLG gene homozygote mutation.

Journal: Revue neurologique

Published: February 15, 2020

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.

Journal: Frontiers in neurology

Published: June 24, 2019

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.

Journal: Journal of inherited metabolic disease

Published: May 20, 2019

Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS

Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS

Journal: Medecine sciences : M/S

Published: November 13, 2018

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Journal: Revue neurologique

Published: August 31, 2018

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 23, 2018

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Journal: Hepatology (Baltimore, Md.)

Published: June 14, 2018

Showing 1-12 of 44

Last Updated: 09/26/2026