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

par Kettwig, Matthias, Ohlenbusch, Andreas, Jung, Klaus, Steinfeld, Robert, Gärtner, Jutta
Publié dans J Pediatr Genet (2018)

Clinical utility gene card for: Zellweger syndrome spectrum

par Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta
Publié dans Eur J Hum Genet (2015)

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

par Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta
Publié 2011

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

par Lehmann, Janin, Schubert, Steffen, Seebode, Christina, Apel, Antje, Ohlenbusch, Andreas, Emmert, Steffen
Publié dans Oncotarget (2017)

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

par Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta
Publié dans JIMD Rep (2019)

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

par Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Publié 2012

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

par Rosewich, Hendrik, Thiele, Holger, Ohlenbusch, Andreas, Maschke, Ulrike, Frommolt, Peter, Nürnberg, Peter, Brockmann, Knut, Gärtner, Jutta
Publié dans Mol Cell Pediatr (2014)

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

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

A novel remitting leukodystrophy associated with a variant in FBP2

par 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
Publié dans Brain Commun (2021)