Research Topics
Genomes and Genes | Alexander ZimprichSummaryAffiliation: Medical University of Vienna Country: Austria Publications
| Collaborators
|
Detail Information
Publications
Genetics of Parkinson's disease and essential tremorAlexander Zimprich
Department of Neurology, Medizinische Universität Wien, Vienna, Austria
Curr Opin Neurol 24:318-23. 2011..This review summarizes some key findings of the past few years on the genetics of the two common movement disorders Parkinson's disease and essential tremor...- Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answersAlexander Zimprich
Department of Clinical Neurology, Medical University of Vienna, Vienna, Austria
Parkinsonism Relat Disord 18:711-6. 2012..Inheritance of epigenetic mutations along with paramutational events have the potential to explain the non-mendelian features in the genetics of both diseases... 
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseAlexander Zimprich
Department of Neurology, Medizinische Universität Wien, Vienna, Austria
Am J Hum Genet 89:168-75. 2011..VPS35 is a component of the retromer complex and mediates retrograde transport between endosomes and the trans-Golgi network, and it has recently been found to be involved in Alzheimer disease...- Sequence analysis of the complete SLITRK1 gene in Austrian patients with Tourette's disorderAlexander Zimprich
Department of Neurology, Medical University of Vienna, Austria
Psychiatr Genet 18:308-9. 2008..In conclusion, our results provide no evidence for SLITRK1 playing a major role in TD... - PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's diseaseAlexander Zimprich
Department of Clinical Neurology, Medical University of Vienna, Vienna, Austria
Parkinsonism Relat Disord 15:532-4. 2009..This variant was not found in 50 control individuals from Egypt. We conclude that neither of these two variants plays a major role in the pathogenesis of PD in our study population... - Role of LINGO1 polymorphisms in Parkinson's diseaseDietrich Haubenberger
Department of Neurology, Medical University of Vienna, Vienna, Austria
Mov Disord 24:2404-7. 2009..Neither did a subgroup analysis in tremor-dominant patients with PD reveal a significant association. This study on LINGO1-variants in PD argues against a major role of LINGO1 gene variations for PD... - Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's diseaseDietrich Haubenberger
Department of Neurology, Medical University of Vienna, Wahringer Gurtel 18 20, A 1090 Vienna, Austria
Neurobiol Aging 32:302-7. 2011.... - Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patientsMascha C Schmied
Department of Neurology, Medical University of Vienna, Waehringer Guertel 18 20, 1090 Vienna, Austria
Neurogenetics 13:181-7. 2012..01), rs7090530 (IL2RA, p < 0.026) and rs1841770 (ZIC1, p < 0.017) with a younger age at MS onset and of rs12044852 (CD58, p < 0.035) with shorter time to reach EDSS6... 
Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsyElisabeth Stogmann
Department of Clinical Neurology, Core Unit of Medical Statistics and Informatics, Medical University of Vienna, Wahringer Gurtel 18 20, A 1090 Vienna, Austria
Epilepsia 47:437-9. 2006..To clarify the role of this polymorphism in TLE, we attempted to replicate this study...- A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementiaAtbin Djamshidian
Department of Neurology, Medical University of Vienna Währinger Gürtel 18 20, Vienna A 1097, Austria
Muscle Nerve 39:389-91. 2009..Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD... - A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's diseaseDietrich Haubenberger
Department of Neurology, Medical University of Vienna, and SMZ Ost Donauspital, Vienna, Austria
Mov Disord 22:1640-3. 2007..While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD... - Lack of association between ABCC2 gene variants and treatment response in epilepsyEva Hilger
Department of Clinical Neurology, Medical University of Vienna, Vienna, Austria
Pharmacogenomics 13:185-90. 2012..The aim of this study was to replicate a previously reported association between drug resistance in epilepsy patients and the 24C>T variant of the ABCC2 gene that codes for the drug efflux transporter MRP2... - A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsyElisabeth Stogmann
Department of Neurology, University Hospital of Vienna, Vienna, Austria
Ann Neurol 51:260-3. 2002..Irrespective of the familial background, L-homozygotes display a higher risk for secondarily generalized seizures and status epilepticus...