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

מאת Kettwig, Matthias, Ohlenbusch, Andreas, Jung, Klaus, Steinfeld, Robert, Gärtner, Jutta
הוצא לאור ב J Pediatr Genet (2018)

Clinical utility gene card for: Zellweger syndrome spectrum

מאת Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta
הוצא לאור ב Eur J Hum Genet (2015)

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

מאת Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta
יצא לאור 2011

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

מאת Lehmann, Janin, Schubert, Steffen, Seebode, Christina, Apel, Antje, Ohlenbusch, Andreas, Emmert, Steffen
הוצא לאור ב Oncotarget (2017)

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

מאת Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta
הוצא לאור ב JIMD Rep (2019)

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

מאת Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
יצא לאור 2012

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

מאת Rosewich, Hendrik, Thiele, Holger, Ohlenbusch, Andreas, Maschke, Ulrike, Frommolt, Peter, Nürnberg, Peter, Brockmann, Knut, Gärtner, Jutta
הוצא לאור ב Mol Cell Pediatr (2014)

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

מאת Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B., Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut
הוצא לאור ב Orphanet J Rare Dis (2021)

A novel remitting leukodystrophy associated with a variant in FBP2

מאת Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter
הוצא לאור ב Brain Commun (2021)