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Ana Westenberger
Ana Westenberger
Lübeck
Dirección de correo verificada de neuro.uni-luebeck.de
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Genetics of Parkinson’s disease
C Klein, A Westenberger
Cold Spring Harbor perspectives in medicine 2 (1), a008888, 2012
16672012
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ...
The Lancet Neurology 10 (10), 898-908, 2011
3552011
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
3272013
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
3042018
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
K Hedrich, A Djarmati, N Schafer, R Hering, C Wellenbrock, PH Weiss, ...
Neurology 62 (3), 389-394, 2004
2882004
The evolving spectrum of PRRT2-associated paroxysmal diseases
D Ebrahimi-Fakhari, A Saffari, A Westenberger, C Klein
Brain 138 (12), 3476-3495, 2015
2832015
Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP
KM Scaglione, E Zavodszky, SV Todi, S Patury, P Xu, ...
Molecular cell 43 (4), 599-612, 2011
1972011
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
1952009
The Machado–Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability
TM Durcan, M Kontogiannea, T Thorarinsdottir, L Fallon, AJ Williams, ...
Human molecular genetics 20 (1), 141-154, 2011
1822011
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
C Klein, A Djarmati, K Hedrich, N Schäfer, C Scaglione, R Marchese, ...
European journal of human genetics 13 (9), 1086-1093, 2005
1772005
Large-scale replication and heterogeneity in Parkinson disease genetic loci
M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, ...
Neurology 79 (7), 659-667, 2012
1582012
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
K Hedrich, J Hagenah, A Djarmati, A Hiller, T Lohnau, K Lasek, ...
Archives of neurology 63 (6), 833-838, 2006
1552006
Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA)
S A Schneider, P Dusek, J Hardy, A Westenberger, J Jankovic, K P Bhatia
Current neuropharmacology 11 (1), 59-79, 2013
1412013
Myoclonus‐dystonia: significance of large SGCE deletions
A Grünewald, A Djarmati, K Lohmann‐Hedrich, K Farrell, JA Zeller, ...
Human mutation 29 (2), 331-332, 2008
1352008
Phenotypic insights into ADCY5‐associated disease
FCF Chang, A Westenberger, RC Dale, M Smith, HS Pall, ...
Movement Disorders 31 (7), 1033-1040, 2016
1312016
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
A Djarmati, K Hedrich, M Svetel, N Schäfer, V Juric, S Vukosavic, ...
Human mutation 23 (5), 525-525, 2004
1142004
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
1092021
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
962015
Genetics of Parkinson's disease
KR Kumar, A Djarmati-Westenberger, A Grünewald
Seminars in neurology 31 (05), 433-440, 2011
962011
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
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Artículos 1–20