| Imaging features and safety and efficacy of endovascular stroke treatment: a meta-analysis of individual patient-level data L San Román, BK Menon, J Blasco, M Hernández-Pérez, A Dávalos, ... The Lancet Neurology 17 (10), 895-904, 2018 | 351 | 2018 |
| Penumbral imaging and functional outcome in patients with anterior circulation ischaemic stroke treated with endovascular thrombectomy versus medical therapy: a meta-analysis … BCV Campbell, CBLM Majoie, GW Albers, BK Menon, N Yassi, G Sharma, ... The Lancet Neurology 18 (1), 46-55, 2019 | 323 | 2019 |
| Effect of general anaesthesia on functional outcome in patients with anterior circulation ischaemic stroke having endovascular thrombectomy versus standard care: a meta … BCV Campbell, WH Van Zwam, M Goyal, BK Menon, DWJ Dippel, ... The Lancet Neurology 17 (1), 47-53, 2018 | 240 | 2018 |
| Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia M Zech, S Boesch, EM Maier, I Borggraefe, K Vill, F Laccone, V Pilshofer, ... The American Journal of Human Genetics 99 (6), 1377-1387, 2016 | 159 | 2016 |
| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 156 | 2020 |
| Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up M Zech, S Boesch, A Jochim, S Weber, T Meindl, B Schormair, T Wieland, ... Movement Disorders 32 (4), 549-559, 2017 | 118 | 2017 |
| Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia M Zech, DD Lam, L Francescatto, B Schormair, AV Salminen, A Jochim, ... The American Journal of Human Genetics 96 (6), 883-893, 2015 | 100 | 2015 |
| Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Annals of neurology 88 (5), 867-877, 2020 | 80 | 2020 |
| Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders M Zech, G Nübling, F Castrop, A Jochim, EC Schulte, B Mollenhauer, ... PloS one 8 (12), e82879, 2013 | 76 | 2013 |
| De novo variants in neurodevelopmental disorders—experiences from a tertiary care center T Brunet, R Jech, M Brugger, R Kovacs, B Alhaddad, G Leszinski, ... Clinical Genetics 100 (1), 14-28, 2021 | 73 | 2021 |
| Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls M Zech, N Gross, A Jochim, F Castrop, M Kaffe, C Dresel, P Lichtner, ... Movement Disorders 29 (1), 143-147, 2014 | 57 | 2014 |
| DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family M Zech, F Castrop, B Schormair, A Jochim, T Wieland, N Gross, P Lichtner, ... Movement Disorders 29 (12), 1504-1510, 2014 | 55 | 2014 |
| Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing M Zech, R Jech, M Wagner, T Mantel, S Boesch, M Nocker, A Jochim, ... Neurogenetics 18, 195-205, 2017 | 48 | 2017 |
| Update on KMT2B-Related Dystonia M Zech, DD Lam, J Winkelmann Current neurology and neuroscience reports 19, 1-11, 2019 | 47 | 2019 |
| KMT2B rare missense variants in generalized dystonia M Zech, R Jech, P Havránková, A Fečíková, R Berutti, D Urgošík, ... Movement Disorders 32 (7), 1087-1091, 2017 | 45 | 2017 |
| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome MA Cousin, BA Creighton, KA Breau, RC Spillmann, E Torti, S Dontu, ... Nature genetics 53 (7), 1006-1021, 2021 | 43 | 2021 |
| KMT2B is selectively required for neuronal transdifferentiation, and its loss exposes dystonia candidate genes G Barbagiovanni, PL Germain, M Zech, S Atashpaz, PL Riso, ... Cell reports 25 (4), 988-1001, 2018 | 36 | 2018 |
| Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset N Mirza-Schreiber, M Zech, R Wilson, T Brunet, M Wagner, R Jech, ... Brain 145 (2), 644-654, 2022 | 26 | 2022 |
| Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability S Neuser, B Brechmann, G Heimer, I Brösse, S Schubert, L O'Grady, ... Human mutation 42 (6), 762-776, 2021 | 26 | 2021 |
| Treatment of cervical dystonia with abo-and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice A Jochim, T Meindl, T Mantel, S Zwirner, M Zech, F Castrop, B Haslinger Journal of neurology 266, 1879-1886, 2019 | 24 | 2019 |
