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Orphanet Journal of Rare Diseases|October 11, 2012
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patientsJérôme Stirnemann, Marie Vigan, Dalil Hamroun, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|May 27, 2026
Death following high-dose AAV9 gene therapy in a patient with advanced SMA-PMEOdile Boespflug-Tanguy, Arnaud Valent, Jérôme Rambaud, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 5, 2016
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapyShaalee Dworski, Ping Lu, Aneal Khan, et al.
Cancer Immunology Research|March 17, 2021
Neutral Sphingomyelinase 2 Heightens Anti-Melanoma Immune Responses and Anti-PD-1 Therapy EfficacyAnne Montfort, Florie Bertrand, Julia Rochotte, et al.
Iscience|September 2, 2025
Thermoneutral housing worsens MASLD and reveals defective brown adipose tissue response to β3-adrenergic stimulationCéline Marie Pauline Martin, Arnaud Polizzi, Valérie Alquier-Bacquié, et al.
EMBO Reports|April 27, 2026
Hepatic FGF21 is not required for fasting metabolism but guides protein appetite post energy depletionJustine Bruse, Clothilde Marbach, Arnaud Polizzi, et al.
Cell Reports|June 8, 2022
ATGL-dependent white adipose tissue lipolysis controls hepatocyte PPARα activityAnne Fougerat, Gabriele Schoiswohl, Arnaud Polizzi, et al.
Brain : a Journal of Neurology|May 23, 2018
A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiencyJulie Tordo, Claire O'Leary, André S L M Antunes, et al.
Plos Biology|April 14, 2025
Liver gene expression and its rewiring in hepatic steatosis are controlled by PI3Kα-dependent hepatocyte signalingMarion Régnier, Arnaud Polizzi, Tiffany Fougeray, et al.
Gut|April 27, 2021
Integrative study of diet-induced mouse models of NAFLD identifies PPARα as a sexually dimorphic drug targetSarra Smati, Arnaud Polizzi, Anne Fougerat, et al.
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