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Mitochondrial and Cardiovascular Physiopathology | UMR Inserm U1083 - CNRS 6015

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Farah Cadour, Morgane Quemeneur, Loic Biere, Erwan Donal, Zakarya Bentatou, et al.. Prognostic value of cardiovascular magnetic resonance T1 mapping and extracellular volume fraction in nonischemic dilated cardiomyopathy. Journal of Cardiovascular Magnetic Resonance, 2023, 25 (1), pp.7. ⟨10.1186/s12968-023-00919-y⟩. ⟨hal-03978154v2⟩
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https://hal.science/hal-03978154/file/Cadour.pdf BibTex
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Gabriel Sturm, Kalpita Karan, Anna Monzel, Balaji Santhanam, Tanja Taivassalo, et al.. OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases. Communications Biology, 2023, 6 (1), pp.22. ⟨10.1038/s42003-022-04303-x⟩. ⟨hal-04254701⟩
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Lindsey van Haute, Emily O’connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature Communications, 2023, 14 (1), pp.1009. ⟨10.1038/s41467-023-36277-7⟩. ⟨hal-04254695⟩
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Imane Aitraise, Ghita Amalou, Salaheddine Redouane, Hicham Charoute, Khalid Snoussi, et al.. Novel pathogenic WHRN variant causing hearing loss in a moroccan family. Molecular Biology Reports, 2023, ⟨10.1007/s11033-023-08901-8⟩. ⟨hal-04281535⟩
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Rahma Felhi, Lamia Sfaihi, Majida Charif, Fakher Frikha, Nissaf Aoiadni, et al.. Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome. Metabolic Brain Disease, 2023, 38 (7), pp.2489-2497. ⟨10.1007/s11011-023-01280-w⟩. ⟨hal-04254614⟩
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Saida Lhousni, Majida Charif, Yassine Derouich, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, et al.. A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias. BONE, 2023, 175, pp.116860. ⟨10.1016/j.bone.2023.116860⟩. ⟨hal-04254628⟩
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C. Ait El Cadi, L. Dafrallah, G. Amalou, M. Charif, H. Charoute, et al.. A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant. Revue Neurologique, 2023, 179 (8), pp.902-909. ⟨10.1016/j.neurol.2023.01.728⟩. ⟨hal-04254667⟩
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Alexia Bodin, Logan Greibill, Julien Gouju, Franck Letournel, Silvia Pozzi, et al.. Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells. Brain - A Journal of Neurology , 2023, 146 (9), pp.3624-3633. ⟨10.1093/brain/awad228⟩. ⟨hal-04254654⟩
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Natalia Bobba-Alves, Gabriel Sturm, Jue Lin, Sarah Ware, Kalpita Karan, et al.. Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging. Psychoneuroendocrinology, 2023, 155, pp.106322. ⟨10.1016/j.psyneuen.2023.106322⟩. ⟨hal-04254638⟩
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https://hal.science/hal-04254638/file/Cellular%20allostatic%20load%20is%20linked%20to%20increased%20energy%20expenditure%20and%20accelerated%20biological%20aging%20-%20nihms-1912434.pdf BibTex
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Guy Lenaers, Cléis Beaulieu, Majida Charif, Sylvie Gerber, Josseline Kaplan, et al.. Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm. Brain - A Journal of Neurology , 2023, 146 (8), pp.3156-3161. ⟨10.1093/brain/awad131/7127740⟩. ⟨hal-04254677⟩
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https://hal.science/hal-04254677/file/arLHON%20in%20Brain.pdf BibTex
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