Navigation Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 par Etablissement "CNRS"
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueLibre accès
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Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2
HARLY, Christelle; JOYCE, Stephen Paul; DOMBLIDES, Charlotte
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(Science Immunology. vol. 6, n° 61, 2021-07-30)Article de revue -
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
LACOMBE, Didier; VAN-GILS, Julien; LEBRUN, Marine ...
(Brain and Development. vol. 44, n° 8, pp. 567-570, 2022-09-01)Article de revue -
Phenotypic, Metabolic, and Functional Characterization of Experimental Models of Foamy Macrophages: Toward Therapeutic Research in Atherosclerosis
(International Journal of Molecular Sciences. vol. 25, n° 18, pp. 10146, 2024-09-21)Article de revueLibre accès
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Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
PRUDHOMME, L.; DELLECI, Claire; TRIMOUILLE, Aurelien ...
(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue -
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
BAKIS, Hugo; TRIMOUILLE, Aurelien; VERMOREL, Agathe ...
(Clinical Kidney Journal. vol. 16, n° 1, pp. 100-110, 2023-01)Article de revueLibre accès
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Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
REDONNET VERNHET, Isabelle; MERCIE, Patrick; LEBRETON, Louis ...
(Molecular Genetics and Metabolism Reports. vol. 39, pp. 101076, 2024-06-01)Article de revueLibre accès
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Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis
GUERVILLE, Florent; VIALEMARINGE, Marine; COGNET, C. ...
(AIDS. vol. 37, n° 7, pp. 1035-1046, 2023)Article de revue