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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)Article de revueLibre accès -
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
(Journal of Inherited Metabolic Disease. vol. 44, n° 3, pp. 777-786, 2021-05)Article de revue -
SOD1-related ALS with anticipation in a large family from Martinique
(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021-03-23)Article de revue -
The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
(Genes. vol. 13, n° 7, pp. 1164, 2022-06-27)Article de revueLibre accès -
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
(American Journal of Human Genetics. vol. 110, n° 6, pp. 998-1007, 2023-06-01)Article de revue -
The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins.
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1869, n° 7, pp. 166767, 2023-10-01)Article de revue -
L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase
(Experimental Cell Research. vol. 426, n° 2, pp. 113568, 2023-05-15)Article de revue -
Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: the inflammasome hypothesis.
(AIDS. Official journal of the international AIDS Society. vol. 37, n° 7, pp. 1035-1046, 2023-06-01)Article de revue -
Lung Tumor Growth Promotion by Tobacco-Specific Nitrosamines Involves the β2-Adrenergic Receptors-Dependent Stimulation of Mitochondrial REDOX Signaling.
(Antioxidants and Redox Signaling. vol. 36, n° 7-9, pp. 525-549, 2022-03-01)Article de revue -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)Article de revueLibre accès