List of works - Alexander Zimprich

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

scientific article (publication date: 18 November 2004)

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

scientific article

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

scientific article

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

scientific article (publication date: September 2001)

Genetic structure of Europeans: a view from the North-East

scientific article

Multiple regions of alpha-synuclein are associated with Parkinson's disease

scientific article

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

scientific article published on 27 July 2008

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

scientific journal article

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

scientific article published in December 2005

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

scientific journal article

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

scientific article

An allelic variation in the human prodynorphin gene promoter alters stimulus-induced expression

scientific article

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

scientific article (publication date: February 2003)

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

article

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy

article

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

scientific article (publication date: October 2002)

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia

scientific article published in March 2009

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

scholarly article by Daniela Berg et al published 2005 in Movement Disorders

Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease

scientific article

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

scientific article

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

scientific article published in June 2008

Sequence analysis of the complete SLITRK1 gene in Austrian patients with Touretteʼs disorder

article

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease

scientific article published in September 2017

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

scientific article

Common variants of LRRK2 are not associated with sporadic Parkinson's disease

scholarly article by Saskia Biskup et al published December 2005 in Annals of Neurology

Genome-wide significant association with seven novel multiple sclerosis risk loci

scientific article

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

scientific article published in September 2001

Genetics of Parkinson's disease and essential tremor

scientific article published on August 1, 2011

Molecular cloning and functional analysis of the rat mu opioid receptor gene promoter

scientific article published on October 1995

The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease

scientific article published on March 2008

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia

scientific article published on October 2007

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

scientific article

The role ofSCARB2as susceptibility factor in Parkinson's disease

scholarly article by Franziska Hopfner et al published 13 February 2013 in Movement Disorders

A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample

scientific article published in January 2005

Lack of Association Between ABCC2 Gene Variants and Treatment Response in Epilepsy

scientific article published on January 1, 2012

Role of LINGO1 polymorphisms in Parkinson's disease

scientific article

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease

scientific article published on 16 June 2012

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

scientific article

VPS35 Parkinson's disease phenotype resembles the sporadic disease

scientific article published on 21 February 2014

PARK11 is not linked with Parkinson's disease in European families

article

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

scientific article

Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers

scientific article published on April 19, 2012

PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease

scientific article

Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease

scientific article

A genetic polymorphism of the endogenous opioid dynorphin modulates monetary reward anticipation in the corticostriatal loop

scientific article (publication date: 2014)

Cloning and expression of an isoform of the rmu-opioid receptor (rmuOR1B)

A novelLRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

scholarly article by Dietrich Haubenberger et al published 2007 in Movement Disorders

Rare variants in LRRK1 and Parkinson's disease

scientific article

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

scientific article published in February 2002

List of works by Alexander Zimprich

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

Genetic structure of Europeans: a view from the North-East

Multiple regions of alpha-synuclein are associated with Parkinson's disease

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

An allelic variation in the human prodynorphin gene promoter alters stimulus-induced expression

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

Sequence analysis of the complete SLITRK1 gene in Austrian patients with Touretteʼs disorder

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

Common variants of LRRK2 are not associated with sporadic Parkinson's disease

Genome-wide significant association with seven novel multiple sclerosis risk loci

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

Genetics of Parkinson's disease and essential tremor

Molecular cloning and functional analysis of the rat mu opioid receptor gene promoter

The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

The role ofSCARB2as susceptibility factor in Parkinson's disease

A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample

Lack of Association Between ABCC2 Gene Variants and Treatment Response in Epilepsy

Role of LINGO1 polymorphisms in Parkinson's disease

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

VPS35 Parkinson's disease phenotype resembles the sporadic disease

PARK11 is not linked with Parkinson's disease in European families

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers

PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease

Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease

A genetic polymorphism of the endogenous opioid dynorphin modulates monetary reward anticipation in the corticostriatal loop

Cloning and expression of an isoform of the rmu-opioid receptor (rmuOR1B)

A novelLRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

Rare variants in LRRK1 and Parkinson's disease

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.