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

Bằng Kettwig, Matthias, Ohlenbusch, Andreas, Jung, Klaus, Steinfeld, Robert, Gärtner, Jutta
Xuất bản năm J Pediatr Genet (2018)

Clinical utility gene card for: Zellweger syndrome spectrum

Bằng Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta
Xuất bản năm Eur J Hum Genet (2015)

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

Bằng Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta
Được phát hành 2011

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

Bằng Lehmann, Janin, Schubert, Steffen, Seebode, Christina, Apel, Antje, Ohlenbusch, Andreas, Emmert, Steffen
Xuất bản năm Oncotarget (2017)

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

Bằng Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta
Xuất bản năm JIMD Rep (2019)

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

Bằng Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Được phát hành 2012

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

Bằng Rosewich, Hendrik, Thiele, Holger, Ohlenbusch, Andreas, Maschke, Ulrike, Frommolt, Peter, Nürnberg, Peter, Brockmann, Knut, Gärtner, Jutta
Xuất bản năm Mol Cell Pediatr (2014)

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

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

A novel remitting leukodystrophy associated with a variant in FBP2

Bằng 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
Xuất bản năm Brain Commun (2021)