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Norbert Brüggemann
Norbert Brüggemann
Department of Neurology, Institute of Neurogenetics, University of Lübeck, Germany
Bestätigte E-Mail-Adresse bei neuro.uni-luebeck.de
Titel
Zitiert von
Zitiert von
Jahr
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
3972017
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
2672011
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
1942009
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
1792013
Etiology of musician’s dystonia: familial or environmental?
A Schmidt, HC Jabusch, E Altenmuller, J Hagenah, N Bruggemann, ...
Neurology 72 (14), 1248-1254, 2009
1552009
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
1512018
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
1452012
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
1392015
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
1312020
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
1302010
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
1142023
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
942010
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
932012
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
932010
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
932010
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
922006
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
902017
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
892003
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
882019
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
882009
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