| Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, ... Nature genetics 45 (9), 1077-1082, 2013 | 332 | 2013 |
| Genotype‐Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review M Kasten, C Hartmann, J Hampf, S Schaake, A Westenberger, ... Movement Disorders 33 (5), 730-741, 2018 | 320 | 2018 |
| Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly T Aneichyk, WT Hendriks, R Yadav, D Shin, D Gao, CA Vaine, RL Collins, ... Cell 172 (5), 897-909. e21, 2018 | 232 | 2018 |
| Genetics of Parkinson disease A Domingo, C Klein Handbook of clinical neurology 147, 211-227, 2018 | 145 | 2018 |
| Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review LM Lange, J Junker, S Loens, H Baumann, L Olschewski, S Schaake, ... Movement Disorders 36 (5), 1086-1103, 2021 | 115 | 2021 |
| Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization V Tadic, A Westenberger, A Domingo, D Alvarez-Fischer, C Klein, ... JAMA neurology 72 (4), 460-467, 2015 | 98 | 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 | 91 | 2019 |
| 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 | 89 | 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 | 88 | 2015 |
| Novel dystonia genes: clues on disease mechanisms and the complexities of high‐throughput sequencing A Domingo, R Erro, K Lohmann Movement Disorders 31 (4), 471-477, 2016 | 72 | 2016 |
| Genotype–phenotype relations in primary familial brain calcification: systematic MDSGene review A Balck, S Schaake, NS Kuhnke, A Domingo, H Madoev, J Margolesky, ... Movement Disorders 36 (11), 2468-2480, 2021 | 65 | 2021 |
| 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), 3216, 2021 | 54 | 2021 |
| Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism H Hanssen, M Heldmann, J Prasuhn, V Tronnier, D Rasche, CC Diesta, ... Brain 141 (10), 2995-3008, 2018 | 49 | 2018 |
| Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism N Brüggemann, M Heldmann, C Klein, A Domingo, D Rasche, V Tronnier, ... Parkinsonism & related disorders 31, 91-97, 2016 | 48 | 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 | 46 | 2018 |
| Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability S Steinrücke, K Lohmann, A Domingo, A Rolfs, T Bäumer, J Spiegler, ... Neurology: Genetics 2 (5), e106, 2016 | 45 | 2016 |
| Association of pallidal neurostimulation and outcome predictors with X-linked dystonia parkinsonism N Brüggemann, A Domingo, D Rasche, CKE Moll, RL Rosales, ... JAMA neurology 76 (2), 211-216, 2019 | 43 | 2019 |
| Striosomal dysfunction affects behavioral adaptation but not impulsivity—Evidence from X‐linked dystonia‐parkinsonism C Beste, M Mückschel, R Rosales, A Domingo, L Lee, A Ng, C Klein, ... Movement Disorders 32 (4), 576-584, 2017 | 43 | 2017 |
| 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, 3205-3215, 2016 | 41 | 2016 |
| 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 | 35 | 2017 |