List of works by Carles Vilariño-Güell

A Genetic Risk Factor for Periodic Limb Movements in Sleep

scientific article published on 01 January 2008

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

scientific article published on 25 July 2009

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

scientific article published on 02 July 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 22 February 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

scientific article (publication date: September 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.

scientific article

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

scientific article published on 30 January 2012

Analysis of CH25H in multiple sclerosis and neuromyelitis optica

scientific article published on 31 December 2015

Analysis of CYP27B1 in multiple sclerosis

scientific article

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

scientific article

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

scientific article published on 18 May 2016

Analysis of galanin receptor GALR2 in multiple sclerosis

scientific article published on 14 October 2019

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

scientific article

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

scientific article published on 30 August 2011

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

scientific article published on August 2010

Association of pyridoxal kinase and Parkinson disease

scientific article published in March 2010

Association of the MAPT locus with Parkinson's disease

scientific article

Calbindin-1association and Parkinson’s disease

scientific article published on 05 August 2009

Case-Control Studies Are Not Familial Studies

scientific article

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

scientific article published on February 2009

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

scientific article published on 30 July 2008

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

scientific article published on 3 September 2014

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

scientific article published on 23 March 2017

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

scientific article published on 22 November 2013

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

scientific article published on October 2010

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

DCTN1 mutations in Perry syndrome

scientific article

DNAJC13 genetic variants in parkinsonism.

scientific article published on 12 November 2014

DNAJC13 mutations in Parkinson disease

scientific article (publication date: April 2014)

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

scientific article

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

scientific article

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.

scientific article

Defining neurodegeneration on Guam by targeted genomic sequencing.

scientific article published on 3 February 2015

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

scientific article published on 22 August 2008

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

scientific article

Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

scientific article published on 01 October 2016

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

scientific article published on 03 April 2007

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

scientific article published on 14 November 2006

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

scientific article published on 06 June 2019

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

scientific article published on 14 September 2018

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

scientific article published on 03 October 2008

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

scientific article

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

scientific article published on 11 June 2020

Genetic modifiers of multiple sclerosis progression, severity and onset

scientific article published on 10 May 2017

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

scientific article published on 26 April 2014

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

scientific article published on 24 October 2011

Genetic variation of Omi/HtrA2 and Parkinson's disease

scientific article published on 14 September 2008

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

scientific article

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

scientific article published on 20 October 2016

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

scientific article published in May 2003

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

scientific article

Glucocerebrosidase mutations in diffuse Lewy body disease

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

scientific article

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

scientific article

LRRK2 variation and Parkinson's disease in African Americans

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

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

scientific article

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

scientific article

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

scientific article published on 29 September 2010

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

scientific article published on 16 September 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

scientific article

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

scientific article

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

scientific article published on 01 October 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

scientific article

Progressive multiple sclerosis does not associate with rs996343 and rs2046748.

scientific article published on 24 December 2013

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

scientific article published on 17 August 2013

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

scientific article

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

scientific article published in March 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

scientific article

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

scientific article

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

article

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

scientific article published on 14 February 2013

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

scientific article published on 4 November 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

scientific article published on 3 February 2017

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

scientific article

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

scientific article published in November 2014

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 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

scientific article published on 13 August 2014

VPS35 mutations in Parkinson disease

scientific article

Whole-Exome Sequencing of an Exceptional Longevity Cohort

scientific article published on 01 August 2019

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