Kolexia
Jardel Claude Pharmacien
Jardel Claude
Pharmacien
Hôpital Pitie Salpetriere
Paris, France
86 Activités
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{{person.topmesh1.name}} Maladies mitochondriales Maladies musculaires Ophtalmoplégie Cardiomyopathies Acidose lactique Myopathies mitochondriales Acidose Ophtalmoplégie externe progressive Sclérose

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Laforet Pascal
Laforet Pascal
Hôpital Raymond-Poincaré, Garches, France
Eymard Bruno
Eymard Bruno
Hôpital Pitie Salpetriere, Paris, France
Behin Anthony
Behin Anthony
Hôpital Pitie Salpetriere, Paris, France
Wahbi Karim
Wahbi Karim
Hôpital Cochin, Paris, France

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Dernières activités

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Severe Antenatal Hypertrophic Cardiomyopathy Secondary to -Related Mitochondrial Complex I Deficiency.
Molecular syndromology   21 octobre 2022
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genetics in medicine : official journal of the American College of Medical Genetics   26 mai 2021
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Mitochondrion   26 août 2020
Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia "SMANDO" in a consanguineous Moroccan patient with new POLG gene homozygote mutation.
Revue neurologique   07 juillet 2020
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Annales d'endocrinologie   28 avril 2020
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
Journal of inherited metabolic disease   26 novembre 2019
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.
Frontiers in neurology   04 octobre 2019
Multiple mitochondrial DNA deletions due to mtDNA-maintenance defects are identified by next generation sequencing of the mitochondrial genome through eKLIPse
Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference   01 octobre 2019
diagnosis of Mendelian disorders via RNA sequencing
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Hepatology (Baltimore, Md.)   16 mai 2019