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JIMD Reports|September 10, 2019
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patientLars Schlotawa, Thomas Dierks, Sophie Christoph, et al.Journal of Magnetic Resonance Imaging : JMRI|December 1, 2011
Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR studyXiao-Qi Ding, Annette Bley, Andreas Ohlenbusch, et al.Journal of the Neurological Sciences|May 28, 2013
Acute onset of adult Alexander diseaseHolger Schmidt, Benedikt Kretzschmar, Paul Lingor, et al.Orphanet Journal of Rare Diseases|September 22, 2012
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiencyAndreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, et al.American Journal of Medical Genetics. Part A|September 12, 2020
Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATMSimone Schröder, Britta Wieland, Andreas Ohlenbusch, et al.The Journal of Biological Chemistry|July 5, 2007
Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)Merle Hillebrand, Sophie E Verrier, Andreas Ohlenbusch, et al.Molecular Genetics and Metabolism|June 2, 2017
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the diseaseIlona Jaszczuk, Lars Schlotawa, Thomas Dierks, et al.Orphanet Journal of Rare Diseases|February 5, 2021
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathyMarie-Christine Reinert, David Pacheu-Grau, Claudia B Catarino, et al.Journal of Medical Genetics|August 19, 2018
Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndromeSilke Pauli, Janine Altmüller, Simone Schröder, et al.The Lancet. Neurology|August 2, 2012
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification studyHendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, et al.Pageof 3