Lista de obras - Alexander Zimprich - Dominio Público Uruguay

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

scientific article published on 26 September 2020

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

artículo científico publicado en 2008

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

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

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

artículo científico publicado en 2005

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

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

artículo científico publicado en 2000

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

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

Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome

artículo científico publicado en 2005

Erratum: Corrigendum: Variant in the sequence of the LINGO1 gene confers risk of essential tremor

article

Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Genetics of Parkinson's disease and essential tremor ⬇️

artículo científico publicado el 1 de agosto de 2011

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

scientific journal article

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

article

LRRK2 (Leucine-Rich Repeat Kinase 2) Gene on PARK8 Locus in Families with Parkinsonism

article

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

artículo científico publicado el 1 de enero de 2012

Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy.

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 1995

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

artículo científico publicado en 2005

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

artículo científico publicado en 2004

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

artículo científico publicado en 2001

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

artículo científico publicado en 2002

No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

article

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

artículo científico publicado en 2008

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

artículo científico publicado el 19 de abril de 2012

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

artículo científico publicado en 2003

Rare variants in LRRK1 and Parkinson's disease

artículo científico publicado en 2013

Rare variants in PLXNA4 and Parkinson's disease

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2001

Reply: No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease

artículo científico publicado en 2018

Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy

artículo científico publicado en 2013

Role of LINGO1 polymorphisms in Parkinson's disease

artículo científico publicado en 2009

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

article

Spinocerebellar ataxia type 17 in a patient from an Indian kindred

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

The role ofSCARB2as susceptibility factor in Parkinson's disease

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

Transfected rat mu opioid receptors (rMOR1 and rMOR1B) stimulate phospholipase C and Ca2+ mobilization.

artículo científico publicado en 1995

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

artículo científico publicado en 2005

VPS35 Parkinson's disease phenotype resembles the sporadic disease

artículo científico

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

scientific journal article

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

artículo científico publicado en 2012

Lista de obras de Alexander Zimprich

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

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

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

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

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

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

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

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

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

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

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

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

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

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

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

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

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

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

Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome

Erratum: Corrigendum: Variant in the sequence of the LINGO1 gene confers risk of essential tremor

Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families

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

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

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

Genetics of Parkinson's disease and essential tremor ⬇️

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

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

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

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

LRRK2 (Leucine-Rich Repeat Kinase 2) Gene on PARK8 Locus in Families with Parkinsonism

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

Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy.

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

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

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

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

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

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients

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

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

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

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

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

Rare variants in LRRK1 and Parkinson's disease

Rare variants in PLXNA4 and Parkinson's disease

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

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

Reply: No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease

Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy

Role of LINGO1 polymorphisms in Parkinson's disease

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

Spinocerebellar ataxia type 17 in a patient from an Indian kindred

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

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

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

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

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

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

The role ofSCARB2as susceptibility factor in Parkinson's disease

Transfected rat mu opioid receptors (rMOR1 and rMOR1B) stimulate phospholipase C and Ca2+ mobilization.

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

VPS35 Parkinson's disease phenotype resembles the sporadic disease

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

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