| Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study H Rosewich, H Thiele, A Ohlenbusch, U Maschke, J Altmüller, P Frommolt, ... The Lancet Neurology 11 (9), 764-773, 2012 | 258 | 2012 |
| Clinical presentation of pediatric multiple sclerosis before puberty B Huppke, D Ellenberger, H Rosewich, T Friede, J Gärtner, P Huppke European journal of neurology 21 (3), 441-446, 2014 | 138 | 2014 |
| The expanding clinical and genetic spectrum of ATP1A3-related disorders H Rosewich, A Ohlenbusch, P Huppke, L Schlotawa, M Baethmann, ... Neurology 82 (11), 945-955, 2014 | 116 | 2014 |
| Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients S Weller, H Rosewich, J Gärtner Journal of inherited metabolic disease 31 (2), 270-280, 2008 | 67 | 2008 |
| Prosaposin deficiency-a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient M Elleder, M Jeřábková, A Befekadu, M Hřebíček, L Berna, J Ledvinova, ... Neuropediatrics 36 (03), 171-180, 2005 | 66 | 2005 |
| Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders H Rosewich, MT Sweney, S DeBrosse, K Ess, L Ozelius, E Andermann, ... Neurology: Genetics 3 (2), e139, 2017 | 63 | 2017 |
| Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations H Rosewich, A Ohlenbusch, J Gärtner Journal of Medical Genetics 42 (9), e58-e58, 2005 | 58 | 2005 |
| MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions J Lescher, F Paap, V Schultz, L Redenbach, U Scheidt, H Rosewich, ... Journal of neuroimmunology 246 (1-2), 27-33, 2012 | 57 | 2012 |
| Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients C Krause, H Rosewich, M Thanos, J Gärtner Human mutation 27 (11), 1157-1157, 2006 | 57 | 2006 |
| Peroxisomal protein PEX 13 functions in selective autophagy MY Lee, R Sumpter Jr, Z Zou, S Sirasanagandla, Y Wei, P Mishra, ... EMBO reports 18 (1), 48-60, 2017 | 51 | 2017 |
| Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome H Rosewich, D Weise, A Ohlenbusch, J Gärtner, K Brockmann Neurology 83 (9), 861-863, 2014 | 51 | 2014 |
| Rational diagnostic strategy for Zellweger syndrome spectrum patients C Krause, H Rosewich, J Gärtner European journal of human genetics 17 (6), 741-748, 2009 | 47 | 2009 |
| Pitfall in metabolic screening in a patient with fatal peroxisomal β-oxidation defect H Rosewich, HR Waterham, RJA Wanders, S Ferdinandusse, M Henneke, ... Neuropediatrics 37 (02), 95-98, 2006 | 46 | 2006 |
| Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane M Hillebrand, SW Gersting, AS Lotz-Havla, A Schäfer, H Rosewich, ... Journal of Biological Chemistry 287 (1), 210-221, 2012 | 45 | 2012 |
| Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis S Jerkic, H Rosewich, JG Scharf, C Perske, L Füzesi, E Wilichowski, ... European journal of pediatrics 164, 306-310, 2005 | 44 | 2005 |
| The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management L Tranebjærg, N Strenzke, S Lindholm, ND Rendtorff, H Poulsen, ... Human genetics 137, 111-127, 2018 | 39 | 2018 |
| Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis C Krause, H Rosewich, A Woehler, J Gärtner Human Molecular Genetics 22 (19), 3844-3857, 2013 | 37 | 2013 |
| Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype F Jaffer, A Avbersek, R Vavassori, C Fons, J Campistol, M Stagnaro, ... Brain 138 (10), 2859-2874, 2015 | 36 | 2015 |
| Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes K Soliman, F Göttfert, H Rosewich, S Thoms, J Gärtner Scientific reports 8 (1), 7809, 2018 | 34 | 2018 |
| A novel ATP1A3 mutation with unique clinical presentation H Rosewich, M Baethmann, A Ohlenbusch, J Gärtner, K Brockmann Journal of the Neurological Sciences 341 (1-2), 133-135, 2014 | 31 | 2014 |
