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SOD1-related ALS with anticipation in a large family from Martinique
(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021-03-23)Article de revue -
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 -
First clinical description of a pedigree with complete NAF1 deletion
(Leukemia & lymphoma. vol. 64, n° 2, pp. 487-490, 2023-02-01)Article de revue -
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
(Journal of Medical Genetics. vol. 59, n° 5, pp. 417-427, 2022-05-01)Article de revue -
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
(Journal of Medical Genetics. vol. 60, n° 6, pp. 620-626, 2023-06-01)Article de revue -
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
(European Journal of Human Genetics. vol. 30, n° 7, pp. 841-847, 2022-07-01)Article de revue