| Mutations in GNAL: a novel cause of craniocervical dystonia KR Kumar, K Lohmann, I Masuho, R Miyamoto, A Ferbert, T Lohnau, ... JAMA neurology 71 (4), 490-494, 2014 | 84 | 2014 |
| New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3) A Domingo, A Westenberger, LV Lee, I Brænne, T Liu, I Vater, R Rosales, ... European Journal of Human Genetics 23 (10), 1334-1340, 2015 | 83 | 2015 |
| A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism A Westenberger, CJ Reyes, G Saranza, V Dobricic, H Hanssen, ... Annals of neurology 85 (6), 812-822, 2019 | 78 | 2019 |
| Dystonia updates: definition, nomenclature, clinical classification, and etiology K Grütz, C Klein Journal of Neural Transmission 128 (4), 395-404, 2021 | 57 | 2021 |
| Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation S Doss, K Lohmann, P Seibler, B Arns, T Klopstock, C Zühlke, K Freimann, ... Journal of neurology 261 (1), 207-212, 2014 | 42 | 2014 |
| Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism A Domingo, D Amar, K Grütz, LV Lee, R Rosales, N Brüggemann, ... Cellular and Molecular Life Sciences 73 (16), 3205-3215, 2016 | 40 | 2016 |
| Genome editing in induced pluripotent stem cells rescues TAF1 levels in X‐linked dystonia‐parkinsonism A Rakovic, A Domingo, K Grütz, L Kulikovskaja, P Capetian, SA Cowley, ... Movement Disorders 33 (7), 1108-1118, 2018 | 39 | 2018 |
| Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism BH Laabs, C Klein, J Pozojevic, A Domingo, N Brüggemann, K Grütz, ... Nature communications 12 (1), 1-8, 2021 | 37 | 2021 |
| Alternating hemiplegia of childhood as a new presentation of adenylate cyclase 5-mutation-associated disease: a report of two cases A Westenberger, C Max, N Brüggemann, A Domingo, K Grütz, H Pawlack, ... The Journal of pediatrics 181, 306-308. e1, 2017 | 32 | 2017 |
| Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women? A Domingo, LV Lee, N Brüggemann, K Freimann, FJ Kaiser, RDG Jamora, ... JAMA neurology 71 (9), 1177-1180, 2014 | 32 | 2014 |
| X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome A Westenberger, RL Rosales, S Heinitz, K Freimann, LV Lee, RD Jamora, ... Movement Disorders 28 (5), 675-678, 2013 | 23 | 2013 |
| Facial twitches in ADCY5-associated disease-Myokymia or myoclonus? An electromyography study S Tunc, N Brüggemann, MK Baaske, C Hartmann, K Grütz, ... Parkinsonism & related disorders 40, 73-75, 2017 | 22 | 2017 |
| Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia K Grütz, P Seibler, A Weissbach, K Lohmann, FA Carlisle, DJ Blake, ... Scientific reports 7 (1), 1-9, 2017 | 22 | 2017 |
| Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead to SLC20A2 K Grütz, CB Volpato, A Domingo, D Alvarez‐Fischer, U Gebert, ... Movement Disorders 31 (12), 1901-1904, 2016 | 20 | 2016 |
| Mortalin mutations are not a frequent cause of early-onset Parkinson disease K Freimann, K Zschiedrich, N Brüggemann, A Grünewald, H Pawlack, ... Neurobiology of aging 34 (11), 2694. e19-2694. e20, 2013 | 20 | 2013 |
| Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I B Rakić, FV Rao, K Freimann, W Wakarchuk, NCJ Strynadka, SG Withers Glycobiology 23 (5), 536-545, 2013 | 19 | 2013 |
| Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing CJ Reyes, BH Laabs, S Schaake, T Lüth, R Ardicoglu, A Rakovic, K Grütz, ... Neurology Genetics 7 (4), 2021 | 16 | 2021 |
| Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients P Capetian, N Stanslowsky, E Bernhardi, K Grütz, A Domingo, ... Experimental neurology 308, 47-58, 2018 | 13 | 2018 |
| Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia ND Mišković, A Domingo, V Dobričić, C Max, I Brænne, I Petrović, K Grütz, ... Movement disorders: official journal of the Movement Disorder Society 31 (12 …, 2016 | 12 | 2016 |
| Functional and molecular properties of DYT-SGCE myoclonus-dystonia patient-derived striatal medium spiny neurons A Kutschenko, S Staege, K Grütz, H Glaß, N Kalmbach, ... International journal of molecular sciences 22 (7), 3565, 2021 | 11 | 2021 |
