| Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease E Sidransky, MA Nalls, JO Aasly, J Aharon-Peretz, G Annesi, ER Barbosa, ... New England Journal of Medicine 361 (17), 1651-1661, 2009 | 2404 | 2009 |
| Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes R Malik, G Chauhan, M Traylor, M Sargurupremraj, Y Okada, A Mishra, ... Nature genetics 50 (4), 524-537, 2018 | 1463 | 2018 |
| Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study A Rolfs, T Böttcher, M Zschiesche, P Morris, B Winchester, P Bauer, ... The Lancet 366 (9499), 1794-1796, 2005 | 608 | 2005 |
| Clinical exome sequencing: results from 2819 samples reflecting 1000 families D Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ... European Journal of Human Genetics 25 (2), 176-182, 2017 | 394 | 2017 |
| PCR: clinical diagnostics and research A Rolfs, I Schuller, U Finckh, I Weber-Rolfs Springer-Verlag, 1992 | 331 | 1992 |
| Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study A Rolfs, F Fazekas, U Grittner, M Dichgans, P Martus, M Holzhausen, ... Stroke 44 (2), 340-349, 2013 | 302 | 2013 |
| The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement TM Cox, J Aerts, G Andria, M Beck, N Belmatoug, B Bembi, R Chertkoff, ... Journal of inherited metabolic disease 26 (6), 513-526, 2003 | 299 | 2003 |
| Fabry disease: a review of current management strategies A Mehta, M Beck, F Eyskens, C Feliciani, I Kantola, U Ramaswami, ... QJM: An International Journal of Medicine 103 (9), 641-659, 2010 | 293 | 2010 |
| Contribution of established stroke risk factors to the burden of stroke in young adults A Aigner, U Grittner, A Rolfs, B Norrving, B Siegerink, MA Busch Stroke 48 (7), 1744-1751, 2017 | 291 | 2017 |
| Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) A Rolfs, AH Koeppen, I Bauer, P Bauer, S Buhlmann, H Topka, L Schöls, ... Annals of neurology 54 (3), 367-375, 2003 | 275 | 2003 |
| Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection S Debette, Y Kamatani, TM Metso, M Kloss, G Chauhan, ST Engelter, ... Nature genetics 47 (1), 78-83, 2015 | 266 | 2015 |
| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 256 | 2017 |
| Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study B von Sarnowski, J Putaala, U Grittner, B Gaertner, U Schminke, S Curtze, ... Stroke 44 (1), 119-125, 2013 | 256 | 2013 |
| Regulation, chamber localization, and subtype distribution of angiotensin II receptors in human hearts V Regitz-Zagrosek, N Friedel, A Heymann, P Bauer, M Neuss, A Rolfs, ... Circulation 91 (5), 1461-1471, 1995 | 245 | 1995 |
| Distinct muscle imaging patterns in myofibrillar myopathies D Fischer, RA Kley, K Strach, C Meyer, T Sommer, K Eger, A Rolfs, ... Neurology 71 (10), 758-765, 2008 | 243 | 2008 |
| Allelic association of a dopamine transporter gene polymorphism in alcohol dependence with withdrawal seizures or delirium T Sander, H Harms, J Podschus, U Finckh, B Nickel, A Rolfs, ... Biological psychiatry 41 (3), 299-304, 1997 | 232 | 1997 |
| An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy U Strauss, MHP Kole, AU Bräuer, J Pahnke, R Bajorat, A Rolfs, R Nitsch, ... European Journal of Neuroscience 19 (11), 3048-3058, 2004 | 230 | 2004 |
| Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease J Lukas, AK Giese, A Markoff, U Grittner, E Kolodny, H Mascher, ... PLoS genetics 9 (8), e1003632, 2013 | 225 | 2013 |
| Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher … A Rolfs, AK Giese, U Grittner, D Mascher, D Elstein, A Zimran, T Böttcher, ... PloS one 8 (11), e79732, 2013 | 211 | 2013 |
| Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease M Niemann, A Rolfs, S Störk, B Bijnens, F Breunig, M Beer, G Ertl, ... Circulation: Cardiovascular Genetics 7 (1), 8-16, 2014 | 198 | 2014 |
