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American Journal of Human Genetics|June 19, 2012
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, et al.Plos Genetics|September 24, 2010
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal lossVolkan Seyrantepe, Pablo Lema, Aurore Caqueret, et al.Journal of Molecular and Cellular Cardiology|August 21, 2007
Neutral sphingomyelinase inhibition participates to the benefits of N-acetylcysteine treatment in post-myocardial infarction failing heart ratsChristophe Adamy, Paul Mulder, Lara Khouzami, et al.The CRISPR Journal|January 11, 2023
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis PatientDelphine Leclerc, Louise Goujon, Sylvie Jaillard, et al.Cancer Research|October 1, 2020
β-Galactosylceramidase Promotes Melanoma Growth via Modulation of Ceramide MetabolismMirella Belleri, Giuseppe Paganini, Daniela Coltrini, et al.Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.Diabetes|January 3, 2012
Apelin treatment increases complete Fatty Acid oxidation, mitochondrial oxidative capacity, and biogenesis in muscle of insulin-resistant miceCamille Attané, Camille Foussal, Sophie Le Gonidec, et al.Molecular Cancer Therapeutics|November 29, 2018
Targeting the Sphingosine 1-Phosphate Axis Exerts Potent Antitumor Activity in BRAFi-Resistant MelanomasDavid Garandeau, Justine Noujarède, Justine Leclerc, et al.Neurology. Genetics|February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity AssaySilvestre Cuinat, Paul Rollier, Katheryn Grand, et al.Molecular Cell|June 7, 2016
Chromatin-Bound MDM2 Regulates Serine Metabolism and Redox Homeostasis Independently of p53Romain Riscal, Emilie Schrepfer, Giuseppe Arena, et al.Pageof 18