Lista de obras - Suzanne Lesage - Dominio Público Uruguay

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

artículo científico publicado en 2016

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

artículo científico publicado en 2008

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

artículo científico publicado en 2012

A genetic cluster of early onset Parkinson's disease in a Colombian population

artículo científico publicado en 2006

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

artículo científico publicado en 2009

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 multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

artículo científico publicado en 2013

A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.

artículo científico publicado en 2009

A new F-box protein 7 gene mutation causing typical Parkinson's disease

artículo científico publicado en 2015

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

artículo científico publicado en 2015

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

artículo científico publicado en 2016

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

artículo científico publicado en 2009

Alpha-synuclein repeat variants and survival in Parkinson's disease

artículo científico publicado en 2014

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

artículo científico publicado en 2016

Analysis of blood-based gene expression in idiopathic Parkinson disease

artículo científico publicado en 2017

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease

artículo científico publicado en 2010

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

artículo científico publicado en 2007

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

artículo científico publicado en 2013

CHCHD2 and Parkinson's disease.

artículo científico publicado en 2015

Characterization of recessive Parkinson's disease in a large multicenter study

artículo científico publicado en 2020

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.

artículo científico publicado en 2006

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

artículo científico publicado en 2007

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

artículo científico publicado en 2016

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

artículo científico publicado en 2014

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism

artículo científico publicado en 2007

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

artículo científico publicado en 2016

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

artículo científico publicado en 2015

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

artículo científico publicado en 2017

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

artículo científico publicado en 2012

EIF4G1 mutations do not cause Parkinson's disease

artículo científico publicado en 2015

Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease

artículo científico publicado en 2021

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

artículo científico publicado en 2016

Familial Parkinson's disease/parkinsonism

artículo científico publicado en 2015

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

artículo científico publicado en 2013

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease

artículo científico publicado en 2007

From genes to proteins in mendelian Parkinson's disease: an overview

artículo científico publicado en 2009

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

artículo científico publicado en 2005

G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome

artículo científico publicado en 2013

Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease

artículo científico publicado en 2011

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

artículo científico publicado en 2017

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

artículo científico publicado en 2010

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

artículo científico publicado en 2014

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers

artículo científico publicado en 2016

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

artículo científico publicado en 2011

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

artículo científico publicado en 2017

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

artículo científico publicado en 2017

LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort

artículo científico publicado en 2010

LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients

artículo científico publicado en 2010

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

artículo científico publicado en 2007

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

artículo científico publicado en 2005

LRRK2 is a major gene in North African parkinsonism

artículo científico publicado en 2006

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population

artículo científico publicado en 2016

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

artículo científico publicado en 2015

Large-scale replication and heterogeneity in Parkinson disease genetic loci

artículo científico publicado en 2012

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

artículo científico publicado en 2010

Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease

artículo científico publicado en 2010

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

artículo científico publicado en 2015

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines

artículo científico publicado en 2010

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel

artículo científico publicado en 2017

Mutation analysis of Parkinson's disease genes in a Russian data set

scientific article published on 09 July 2018

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

artículo científico publicado en 2017

Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study

artículo científico publicado en 2010

PARKIN Inactivation Links Parkinson's Disease to Melanoma

artículo científico publicado en 2015

PINK1 and FLNA mutations association: A role for atypical parkinsonism?

artículo científico publicado en 2016

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

artículo científico publicado en 2014

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

artículo científico publicado en 2010

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

artículo científico publicado en 2017

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

artículo científico publicado en 2013

Role of mendelian genes in "sporadic" Parkinson's disease

artículo científico publicado en 2012

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

artículo científico publicado en 2011

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

artículo científico publicado en 2007

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease.

artículo científico publicado en 2018

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

artículo científico publicado en 2013

The normal parkin sequence

artículo científico publicado en 2011

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

artículo científico publicado en 2012

What genetics tells us about the causes and mechanisms of Parkinson's disease

artículo científico

Lista de obras de Suzanne Lesage

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

A comprehensive screening of copy number variability in dementia with Lewy bodies

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

A genetic cluster of early onset Parkinson's disease in a Colombian population

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

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

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.

A new F-box protein 7 gene mutation causing typical Parkinson's disease

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

Alpha-synuclein repeat variants and survival in Parkinson's disease

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Analysis of blood-based gene expression in idiopathic Parkinson disease

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

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

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

CHCHD2 and Parkinson's disease.

Characterization of recessive Parkinson's disease in a large multicenter study

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

EIF4G1 mutations do not cause Parkinson's disease

Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

Familial Parkinson's disease/parkinsonism

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease

From genes to proteins in mendelian Parkinson's disease: an overview

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome

Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort

LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

LRRK2 is a major gene in North African parkinsonism

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Large-scale replication and heterogeneity in Parkinson disease genetic loci

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel

Mutation analysis of Parkinson's disease genes in a Russian data set

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study

PARKIN Inactivation Links Parkinson's Disease to Melanoma

PINK1 and FLNA mutations association: A role for atypical parkinsonism?

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

Role of mendelian genes in "sporadic" Parkinson's disease

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease.

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

The normal parkin sequence