Clinical manifestations of the anti-IgLON5 disease C Gaig, F Graus, Y Compta, B Högl, L Bataller, N Brüggemann, ... Neurology 88 (18), 1736-1743, 2017 | 397 | 2017 |
Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts A Rakovic, A Grünewald, J Kottwitz, N Brüggemann, PP Pramstaller, ... PloS one 6 (3), e16746, 2011 | 267 | 2011 |
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study A Djarmati, SA Schneider, K Lohmann, S Winkler, H Pawlack, J Hagenah, ... The Lancet Neurology 8 (5), 447-452, 2009 | 194 | 2009 |
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene K Lohmann, RA Wilcox, S Winkler, A Ramirez, A Rakovic, JS Park, B Arns, ... Annals of neurology 73 (4), 537-545, 2013 | 179 | 2013 |
Etiology of musician’s dystonia: familial or environmental? A Schmidt, HC Jabusch, E Altenmuller, J Hagenah, N Bruggemann, ... Neurology 72 (14), 1248-1254, 2009 | 155 | 2009 |
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects E Seong, R Insolera, M Dulovic, EJ Kamsteeg, J Trinh, N Brüggemann, ... Annals of neurology 83 (6), 1075-1088, 2018 | 151 | 2018 |
Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs V Tadic, M Kasten, N Brüggemann, S Stiller, J Hagenah, C Klein Archives of neurology 69 (12), 1558-1562, 2012 | 145 | 2012 |
Short-and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia N Brüggemann, A Kühn, SA Schneider, C Kamm, A Wolters, P Krause, ... Neurology 84 (9), 895-903, 2015 | 139 | 2015 |
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism M Borsche, IR König, S Delcambre, S Petrucci, A Balck, N Brüggemann, ... Brain 143 (10), 3041-3051, 2020 | 131 | 2020 |
Clinical spectrum of Kufor‐Rakeb syndrome in the Chilean kindred with ATP13A2 mutations MI Behrens, N Brüggemann, P Chana, P Venegas, M Kägi, T Parrao, ... Movement Disorders 25 (12), 1929-1937, 2010 | 130 | 2010 |
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ... The American Journal of Human Genetics 110 (1), 105-119, 2023 | 114 | 2023 |
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization R Saunders‐Pullman, J Hagenah, V Dhawan, K Stanley, G Pastores, ... Movement Disorders 25 (10), 1364-1372, 2010 | 94 | 2010 |
RAD51 haploinsufficiency causes congenital mirror movements in humans C Depienne, D Bouteiller, A Méneret, S Billot, S Groppa, S Klebe, ... The American Journal of Human Genetics 90 (2), 301-307, 2012 | 93 | 2012 |
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype N Brüggemann, J Hagenah, K Reetz, A Schmidt, M Kasten, I Buchmann, ... Archives of neurology 67 (11), 1357-1363, 2010 | 93 | 2010 |
Nonmotor symptoms in genetic Parkinson disease M Kasten, L Kertelge, N Brüggemann, J Van Der Vegt, A Schmidt, V Tadic, ... Archives of neurology 67 (6), 670-676, 2010 | 93 | 2010 |
Dominantly transmitted focal dystonia in families of patients with musician’s cramp A Schmidt, HC Jabusch, E Altenmuller, J Hagenah, N Bruggemann, ... Neurology 67 (4), 691-693, 2006 | 92 | 2006 |
Psychiatric associations of adult-onset focal dystonia phenotypes BD Berman, J Junker, E Shelton, SH Sillau, HA Jinnah, JS Perlmutter, ... Journal of Neurology, Neurosurgery & Psychiatry 88 (7), 595-602, 2017 | 90 | 2017 |
Gonadal steroids differentially regulate the messenger ribonucleic acid expression of pituitary orexin type 1 receptors and adrenal orexin type 2 receptors O Jöhren, N Brüggemann, A Dendorfer, P Dominiak Endocrinology 144 (4), 1219-1225, 2003 | 89 | 2003 |
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 | 88 | 2019 |
ATP13A2 variants in early‐onset Parkinson's disease patients and controls A Djarmati, J Hagenah, K Reetz, S Winkler, MI Behrens, H Pawlack, ... Movement disorders: official journal of the Movement Disorder Society 24 (14 …, 2009 | 88 | 2009 |