Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo’s concentric sclerosis

Por Dreha-Kulaczewski, Steffi F., Helms, Gunther, Dechent, Peter, Hofer, Sabine, Gärtner, Jutta, Frahm, Jens
Publicado em 2008

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Por Kettwig, Matthias, Elpeleg, Orly, Wegener, Eike, Dreha-Kulaczewski, Steffi, Henneke, Marco, Gärtner, Jutta, Huppke, Peter
Publicado no BMC Neurol (2016)

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

Por Steinfeld, Robert, Grapp, Marcel, Kraetzner, Ralph, Dreha-Kulaczewski, Steffi, Helms, Gunther, Dechent, Peter, Wevers, Ron, Grosso, Salvatore, Gärtner, Jutta
Publicado em 2009

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Por Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Müller, Michael, Gärtner, Jutta
Publicado no Nat Commun (2017)