المؤلفون: Dubot, Patricia^1,2 (AUTHOR), Rafiq, Marie^1,3 (AUTHOR), Curot, Jonathan^3,4 (AUTHOR), Simonetta-Moreau, Marion^3,5 (AUTHOR), Sabourdy, Frédérique^1,2 (AUTHOR), Pettazzoni, Magali⁶ (AUTHOR), Froissart, Roseline⁶ (AUTHOR), Levade, Thierry^1,2 (AUTHOR) levade.t@chu-toulouse.fr, Ory-Magne, Fabienne^1,3,5 (AUTHOR) ory.f@chu-toulouse.fr

المصدر: Parkinsonism & Related Disorders. Jan2022, Vol. 94, p124-126. 3p.

مصطلحات موضوعية: *ATAXIA, *BIOMARKERS, *DIAGNOSIS, *MYOCLONUS, *EPILEPSY

المؤلفون: Dubot, Patricia¹ (AUTHOR), Sabourdy, Frédérique¹ (AUTHOR), Rybova, Jitka¹ (AUTHOR), Medin, Jeffrey A.¹ (AUTHOR) jmedin@mcw.edu, Levade, Thierry¹ (AUTHOR) levade.t@chu-toulouse.fr

المصدر: Clinica Chimica Acta. Aug2019, Vol. 495, p457-466. 10p.

مصطلحات موضوعية: *MOLECULAR diagnosis, *ENZYME deficiency, *MEMBRANE lipids, *METABOLISM, *PHYSIOLOGICAL control systems

المؤلفون: Sabourdy, Frédérique^1,2,3, Astudillo, Leonardo^1,2,4, Colacios, Céline^1,2, Dubot, Patricia³, Mrad, Marguerite^1,2, Ségui, Bruno^1,2, Andrieu-Abadie, Nathalie^1,2, Levade, Thierry^1,2,3 thierry.levade@inserm.fr

المصدر: BBA - Molecular & Cell Biology of Lipids. Aug2015, Vol. 1851 Issue 8, p1040-1051. 12p.

مصطلحات موضوعية: *SPHINGOLIPIDS, *LIPID metabolism, *DIAGNOSIS of neurological disorders, *NEURAL physiology, *BRAIN physiology, *LIPID synthesis