Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia

Por Kettwig, Matthias, Ohlenbusch, Andreas, Jung, Klaus, Steinfeld, Robert, Gärtner, Jutta
Publicado no J Pediatr Genet (2018)

Clinical utility gene card for: Zellweger syndrome spectrum

Por Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta
Publicado no Eur J Hum Genet (2015)

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

Por Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta
Publicado em 2011

Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine

Por Lehmann, Janin, Schubert, Steffen, Seebode, Christina, Apel, Antje, Ohlenbusch, Andreas, Emmert, Steffen
Publicado no Oncotarget (2017)

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

Por Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta
Publicado no JIMD Rep (2019)

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

Por Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Publicado em 2012

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders

Por Rosewich, Hendrik, Thiele, Holger, Ohlenbusch, Andreas, Maschke, Ulrike, Frommolt, Peter, Nürnberg, Peter, Brockmann, Knut, Gärtner, Jutta
Publicado no Mol Cell Pediatr (2014)

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

Por Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B., Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut
Publicado no Orphanet J Rare Dis (2021)