Lista de obras - Carles Vilariño-Güell - Dominio Público Uruguay

A Genetic Risk Factor for Periodic Limb Movements in Sleep

artículo científico publicado en 2008

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

artículo científico publicado en 2009

A commentary on fine mapping and resequencing of the PARK16 locus in Parkinson's disease

artículo científico publicado en 2015

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease

artículo científico publicado en 2009

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

artículo científico publicado en 2011

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 novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy

artículo científico publicado en 2014

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium

artículo científico publicado en 2000

ATP13A2 variability in Parkinson disease.

scientific article published on March 2009

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

article

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

artículo científico publicado en 2013

Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population

scholarly article by Alex Rajput et al published 4 November 2009 in Movement Disorders

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

artículo científico publicado en 2012

Analysis of CH25H in multiple sclerosis and neuromyelitis optica

scientific article published on 31 December 2015

Analysis of CYP27B1 in multiple sclerosis

artículo científico publicado en 2013

Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease

article

Analysis of NOD-like receptor NLRP1 in multiple sclerosis families

artículo científico publicado en 2017

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

artículo científico publicado en 2016

Analysis of galanin receptor GALR2 in multiple sclerosis

artículo científico publicado en 2019

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

artículo científico publicado en 2010

Association of pyridoxal kinase and Parkinson disease

artículo científico publicado en 2010

Association of the MAPT locus with Parkinson's disease

artículo científico publicado en 2009

Calbindin-1association and Parkinson’s disease

artículo científico publicado en 2009

Case-Control Studies Are Not Familial Studies

artículo científico publicado en 2016

Characterization of DCTN1 genetic variability in neurodegeneration.

scientific article published on June 2009

Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome

artículo científico publicado en 2009

Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel

artículo científico publicado en 2008

Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism

artículo científico publicado en 2014

Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis

artículo científico publicado en 2017

Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism

artículo científico publicado en 2013

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

artículo científico publicado en 2010

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

DCTN1 mutations in Perry syndrome

artículo científico publicado en 2009

DNAJC13 genetic variants in parkinsonism.

artículo científico publicado en 2014

DNAJC13 mutations in Parkinson disease

artículo científico publicado en 2014

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease

scientific article published on 12 June 2009

Death-associated protein kinase 1 variation and Parkinson's disease.

artículo científico publicado en 2010

Defining neurodegeneration on Guam by targeted genomic sequencing.

artículo científico publicado en 2015

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

artículo científico publicado en 2008

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

artículo científico publicado en 2014

Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

artículo científico publicado en 2016

Effect of an Estrogen Receptor-α Intron 4 Polymorphism on Fat Mass in 11-Year-Old Children

artículo científico publicado en 2007

Estrogen Receptor α Regulates Area-Adjusted Bone Mineral Content in Late Pubertal Girls

artículo científico publicado en 2006

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

artículo científico publicado en 2019

Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

artículo científico publicado en 2018

Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis

artículo científico publicado en 2008

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

artículo científico publicado en 2011

Genetic analysis of nucleotide-binding leucine-rich repeat (NLR) receptors in multiple sclerosis

artículo científico publicado en 2020

Genetic modifiers of multiple sclerosis progression, severity and onset

artículo científico publicado en 2017

Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression.

artículo científico publicado en 2014

Genetic variants of α-synuclein are not associated with essential tremor

artículo científico publicado en 2011

Genetic variation of Omi/HtrA2 and Parkinson's disease

artículo científico publicado en 2008

Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease

artículo científico publicado en 2010

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

scientific journal article

Genome-wide association study in essential tremor identifies three new loci

artículo científico publicado en 2016

Germline mutation induction at mouse repeat DNA loci by chemical mutagens.

artículo científico publicado en 2003

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

artículo científico publicado en 2009

Glucocerebrosidase mutations in diffuse Lewy body disease

artículo científico publicado en 2011

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease

artículo científico publicado en 2010

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

artículo científico publicado en 2016

Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

artículo científico publicado en 2009

Incidence of Multiple Sclerosis and Related Disorders in Asian Populations of British Columbia

artículo científico publicado en 2015

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

artículo científico publicado en 2011

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

artículo científico publicado en 2010

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

artículo científico publicado en 2009

LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

artículo científico publicado en 2011

LRRK2 variation and Parkinson's disease in African Americans

artículo científico publicado en 2010

Large-scale replication and heterogeneity in Parkinson disease genetic loci

artículo científico publicado en 2012

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

artículo científico publicado en 2011

MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy

artículo científico publicado en 2011

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

artículo científico publicado en 2010

NLRX1 inhibits the early stages of CNS inflammation and prevents the onset of spontaneous autoimmunity

artículo científico publicado en 2019

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

scientific article published on 19 October 2017

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

artículo científico publicado en 2010

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

artículo científico publicado en 2016

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

artículo científico publicado en 2016

PTHR1 Polymorphisms Influence BMD Variation through Effects on the Growing Skeleton

article

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

artículo científico publicado en 2013

Progressive multiple sclerosis does not associate with rs996343 and rs2046748.

artículo científico publicado en 2013

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

artículo científico publicado en 2013

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

artículo científico publicado en 2017

Regulator of calcineurin 1 is a novel RNA-binding protein to regulate neuronal apoptosis

scientific article published on 27 August 2019

Reply to: SNCA variants are associated with increased risk of multiple system atrophy

artículo científico publicado en 2010

Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy

article

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

artículo científico publicado en 2017

Reported mutations inGIGYF2are not a common cause of Parkinson's disease

scholarly article by Carles Vilariño-Güell et al published 15 March 2009 in Movement Disorders

SLC1A2 rs3794087 does not associate with essential tremor

artículo científico publicado en 2013

SNCA,MAPT, andGSK3Bin Parkinson disease: a gene-gene interaction study

article

STX6 rs1411478 is not associated with increased risk of Parkinson's disease.

artículo científico publicado en 2013

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

artículo científico publicado en 2012

Susceptibility genes for restless legs syndrome are not associated with Parkinson disease

article

TPP2 mutation associated with sterile brain inflammation mimicking MS

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

artículo científico publicado en 2017

The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood.

artículo científico publicado en 2007

The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population

artículo científico publicado en 2014

Translation initiator EIF4G1 mutations in familial Parkinson disease

artículo científico publicado en 2011

VPS35 Mutations in Parkinson Disease

scholarly article by Carles Vilariño-Güell et al published August 2011 in American Journal of Human Genetics

VPS35 and DNAJC13 disease-causing variants in essential tremor

artículo científico publicado en 2014

VPS35 mutations in Parkinson disease

artículo científico publicado en 2011

Whole-Exome Sequencing of an Exceptional Longevity Cohort

artículo científico publicado en 2019

Lista de obras de Carles Vilariño-Güell

A Genetic Risk Factor for Periodic Limb Movements in Sleep

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

A commentary on fine mapping and resequencing of the PARK16 locus in Parkinson's disease

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

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

A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium

ATP13A2 variability in Parkinson disease.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

Analysis of CH25H in multiple sclerosis and neuromyelitis optica

Analysis of CYP27B1 in multiple sclerosis

Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease

Analysis of NOD-like receptor NLRP1 in multiple sclerosis families

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

Analysis of galanin receptor GALR2 in multiple sclerosis

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

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

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

Association of pyridoxal kinase and Parkinson disease

Association of the MAPT locus with Parkinson's disease

Calbindin-1association and Parkinson’s disease

Case-Control Studies Are Not Familial Studies

Characterization of DCTN1 genetic variability in neurodegeneration.

Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome

Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel

Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism

Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis

Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

DCTN1 mutations in Perry syndrome

DNAJC13 genetic variants in parkinsonism.

DNAJC13 mutations in Parkinson disease

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

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

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease

Death-associated protein kinase 1 variation and Parkinson's disease.

Defining neurodegeneration on Guam by targeted genomic sequencing.

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

Effect of an Estrogen Receptor-α Intron 4 Polymorphism on Fat Mass in 11-Year-Old Children

Estrogen Receptor α Regulates Area-Adjusted Bone Mineral Content in Late Pubertal Girls

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

Genetic analysis of nucleotide-binding leucine-rich repeat (NLR) receptors in multiple sclerosis

Genetic modifiers of multiple sclerosis progression, severity and onset

Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression.

Genetic variants of α-synuclein are not associated with essential tremor

Genetic variation of Omi/HtrA2 and Parkinson's disease

Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease

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

Genome-wide association study in essential tremor identifies three new loci

Germline mutation induction at mouse repeat DNA loci by chemical mutagens.

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

Glucocerebrosidase mutations in diffuse Lewy body disease

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

Incidence of Multiple Sclerosis and Related Disorders in Asian Populations of British Columbia

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

LRRK2 variation and Parkinson's disease in African Americans

Large-scale replication and heterogeneity in Parkinson disease genetic loci

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

NLRX1 inhibits the early stages of CNS inflammation and prevents the onset of spontaneous autoimmunity

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis