Ausgewählte Publikationen 2008
Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, Sass JO, Fischer J, Topcu M. L-2-Hydroxyglutaric Aciduria and Brain Tumors in Children with Mutations in the L2HGDH Gene: Neuroimaging Findings. Neuropediatrics. 2008, 39:119-22.
Schweiger M, Schoiswohl G, Lass A, Radner FP, Haemmerle G, Malli R, Graier W, Cornaciu I, Oberer M, Salvayre R, Fischer J, Zechner R, Zimmermann R. The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. J Biol Chem. 2008, 283(25): 17211-17220.
Sass JO, Jobard F, Topçu M, Mahfoud A, Werlé E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer J. L: -2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene. J Inherit Metab Dis. 2008, 105(online) 1-5.
Claus S, Fischer J, Mégarbané H, Mégarbané A, Jobard F, Debret R, Peyrol S, Saker S, Devillers M, Sommer P, Damour O. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. J Invest Dermatol. 2008, 128(6):1442-1450.