Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency Penkl, Maximilian; Mayr, Johannes A.; Feichtinger, René G.; Reilmann, Ralf; Debus, Otfried; Fobker, Manfred; Penkl, Anja; Reunert, Janine; Rust,Stephan; Marquardt, Thorsten (2024) In: Metabolites, 14(4), 238. doi:10.3390/metabo14040238 Research article (journal) \| Peer reviewed \| Published
Mitochondrial DNA mutations in Medulloblastoma Funke V.L.E.; Sandmann S.; Melcher V.; Seggewiss J.; Horvath J.; Jäger N.; Kool M.; Jones D.T.W.; Pfister S.M.; Milde T.; Rutkowski S.; Mynarek M.; Varghese J.; Sträter R.; Rust S.; Seelhöfer A.; Reunert J.; Fiedler B.; Schüller U.; Marquardt T.; Kerl K. (2023) In: Acta neuropathologica communications, 11(1). doi:10.1186/s40478-023-01602-0 Research article (journal) \| Peer reviewed \| Published
L-Fucose treatment of FUT8-CDG. Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T (2020) In: Molecular Genetics and Metabolism Reports, 25, 100680-100680. doi:10.1016/j.ymgmr.2020.100680 Research article (journal) \| Peer reviewed \| Published
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T (2009) In: Molecular Genetics and Metabolism, 98(3), 305-309. doi:10.1016/j.ymgme.2009.06.010 Research article (journal) \| Peer reviewed \| Published

Rare inborn diseases: Identification, biochemical and molecular characterization of rare diseases and their potential treatment
Candidate: Reunert, Janine | Supervisors: Marquardt, Thorsten; Prüfer, Dirk; Kremerskothen, Joachim
Period of time: 27/09/2006 - 03/04/2012
Doctoral examination procedure finished at: Doctoral examination procedure at University of Münster

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency Penkl, Maximilian; Mayr, Johannes A.; Feichtinger, René G.; Reilmann, Ralf; Debus, Otfried; Fobker, Manfred; Penkl, Anja; Reunert, Janine; Rust,Stephan; Marquardt, Thorsten (2024) In: Metabolites, 14(4), 238. doi:10.3390/metabo14040238 Research article (journal) \| Peer reviewed \| Published
Mitochondrial DNA mutations in Medulloblastoma Funke V.L.E.; Sandmann S.; Melcher V.; Seggewiss J.; Horvath J.; Jäger N.; Kool M.; Jones D.T.W.; Pfister S.M.; Milde T.; Rutkowski S.; Mynarek M.; Varghese J.; Sträter R.; Rust S.; Seelhöfer A.; Reunert J.; Fiedler B.; Schüller U.; Marquardt T.; Kerl K. (2023) In: Acta neuropathologica communications, 11(1). doi:10.1186/s40478-023-01602-0 Research article (journal) \| Peer reviewed \| Published
L-Fucose treatment of FUT8-CDG. Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T (2020) In: Molecular Genetics and Metabolism Reports, 25, 100680-100680. doi:10.1016/j.ymgmr.2020.100680 Research article (journal) \| Peer reviewed \| Published
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T (2009) In: Molecular Genetics and Metabolism, 98(3), 305-309. doi:10.1016/j.ymgme.2009.06.010 Research article (journal) \| Peer reviewed \| Published