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Mitochondrial and Cardiovascular Physiopathology | UMR Inserm U1083 - CNRS 6015

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Erwan Donal, Guillaume Leurent, Anne Ganivet, Philip Lurz, Augustin Coisne, et al.. Multicentric randomized evaluation of a tricuspid valve percutaneous repair system (clip for the tricuspid valve) in the treatment of severe secondary tricuspid regurgitation Tri.Fr Design paper. European Heart Journal - Cardiovascular Imaging, 2022, 23 (12), pp.1617-1627. ⟨10.1093/ehjci/jeab255⟩. ⟨hal-03481252⟩
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Aude Rocatcher, Valérie Desquiret-Dumas, Majida Charif, Marc Ferré, Philippe Gohier, et al.. The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac395⟩. ⟨hal-03861072⟩
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Marie‐céline François-Heude, Elise Lebigot, Emmanuel Roze, Marie Thérèse Abi Warde, Claude Cances, et al.. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩. ⟨hal-03806206⟩
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https://hal.science/hal-03806206/file/2022%20Fran%C3%A7ois%20Haude%20et%20al.%2C%20Movement.pdf BibTex
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Marie Deck, Gerben van Hameren, Graham Campbell, Nathalie Bernard-Marissal, Jérôme Devaux, et al.. Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells. PLoS ONE, 2022, 17 (10), pp.e0272097. ⟨10.1371/journal.pone.0272097⟩. ⟨hal-03861076⟩
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Mariam Rusidzé, Mélanie Faure, Pierre Sicard, Isabelle Raymond-Letron, Frank Giton, et al.. Loss of function of the maternal membrane oestrogen receptor ERα alters expansion of trophoblast cells and impacts mouse fertility. Development (Cambridge, England), 2022, 149 (19), ⟨10.1242/dev.200683⟩. ⟨hal-03816336⟩
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https://hal.science/hal-03816336/file/2022%20Rusidz%C3%A9%20et%20al.%2C%20Loss%20of.pdf BibTex
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Florian Beignon, Naig Gueguen, Hélène Tricoire-Leignel, César Mattei, Guy Lenaers. The multiple facets of mitochondrial regulations controlling cellular thermogenesis. Cellular and Molecular Life Sciences, 2022, 79 (10), pp.525. ⟨10.1007/s00018-022-04523-8⟩. ⟨hal-03861078⟩
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https://hal.archives-ouvertes.fr/hal-03861078/file/CMLS-S-22-01463.pdf BibTex
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Meriem Hechmi, Majida Charif, Ichraf Kraoua, Meriem Fassatoui, Hamza Dallali, et al.. Next generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment. Bioscience Reports, 2022, 42 (9), ⟨10.1042/BSR20220194⟩. ⟨hal-03861081⟩
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https://hal.archives-ouvertes.fr/hal-03861081/file/Leigh%20in%20Tunisia.pdf BibTex
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Charlène Lhuissier, Bart Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, et al.. Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant. Frontiers in Neurology, 2022, 13, ⟨10.3389/fneur.2022.937885⟩. ⟨hal-03861206⟩
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Charlène Lhuissier, Bart Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, et al.. Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant. Frontiers in Neurology, 2022, 13, ⟨10.3389/fneur.2022.937885⟩. ⟨hal-03861074⟩
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Anne Donnars, Alice Leplat, Catherine Grosheny, Claire Briet, Frédéric Illouz, et al.. Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism. Journal of Clinical Endocrinology and Metabolism, 2022, 107 (9), pp.e3548-e3552. ⟨10.1210/clinem/dgac347⟩. ⟨hal-03789727⟩
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