Prospective Graduate Students / Postdocs
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Carles Vilarino-Guell
Assistant Professor
Research Classification
Research Interests
Genetic Diseases
multiple sclerosis
Neurological disorders
Neuromyelitis optica
Relevant Thesis-Based Degree Programs
Affiliations to Research Centres, Institutes & Clusters
Research Methodology
Familial genetics
Population genetics
Next generation sequencing
Genotyping
Neuroscience
Publications
- Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis. (2022)
JAMA neurology, - Exome-wide rare variant analysis in familial essential tremor (2021)
Parkinsonism & Related Disorders, - Regulator of calcineurin 1 is a novel RNA-binding protein to regulate neuronal apoptosis (2021)
Molecular Psychiatry, - Transcriptome analysis of the NR1H3 mouse model of multiple sclerosis reveals a pro-inflammatory phenotype with dysregulation of lipid metabolism and immune response genes (2021)
- Enhanced expression of complement and microglial-specific genes prior to clinical progression in the MOG-experimental autoimmune encephalomyelitis model of multiple sclerosis (2020)
Brain Research Bulletin, 165, 63--69 - Genetic analysis of nucleotide-binding leucine-rich repeat (NLR) receptors in multiple sclerosis (2020)
Immunogenetics, 72 (6-7), 381--385 - Oligodendrocyte ARNT2 expression is altered in models of MS (2020)
Neurology - Neuroimmunology Neuroinflammation, - Oligodendrocyte ARNT2 expression is altered in models of MS. (2020)
Neurology(R) neuroimmunology & neuroinflammation, - Analysis of galanin receptor GALR2 in multiple sclerosis (2019)
The Pharmacogenomics Journal, 19 (6), 499--500 - Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease (2019)
PLOS Genetics, - NLRX1 inhibits the early stages of CNS inflammation and prevents the onset of spontaneous autoimmunity. (2019)
PLoS biology, - Science by tweet: Unethical practices at PLOS Genetics (2019)
Unpublished, - The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci. (2019)
Frontiers in Neurology, - Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases (2018)
Mol Neurobiol, - Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease (2018)
Mult Scler, , 1352458518803789 - Analysis of NOD-like receptor NLRP1 in multiple sclerosis families (2018)
Immunogenetics, - Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course (2018)
J Neuroinflammation, 15 (1), 265 - TPP2 mutation associated with sterile brain inflammation mimicking MS (2018)
Neurol Genet, 4 (6), e285 - Whole Exome Sequencing of an Exceptional Longevity Cohort (2018)
J Gerontol A Biol Sci Med Sci, - Common genetic etiology between “multiple sclerosis-like” single-gene disorders and familial multiple sclerosis (2017)
Human Genetics, - Genetic modifiers of multiple sclerosis progression, severity and onset (2017)
Clinical Immunology, 180, 100--105 - Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism (2017)
Brain, 140, 98-117 - No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor (2017)
Neurol Genet, 3 (5), e195 - Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis (2017)
Hum Mutat, - Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder (2017)
Brain, - Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population (2017)
Movement Disorders, 32 (2), 292-295 - Analysis of CH25H in multiple sclerosis and neuromyelitis optica (2016)
Journal of Neuroimmunology, 291, 70--72 - Analysis of plasminogen genetic variants in multiple sclerosis patients (2016)
G3: Genes, Genomes, Genetics, 6 (7), 2073-2079 - Case-Control Studies Are Not Familial Studies (2016)
Neuron, 92 (2), 339-341 - DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study (2016)
The Lancet Neurology, 15 (12), 1248-1256 - Genome-wide association study in essential tremor identifies three new loci (2016)
Brain, 139, 3163-3169 - Nuclear Receptor NR1H3 in Familial Multiple Sclerosis (2016)
Neuron, 90 (5), 948-954 - A commentary on fine mapping and resequencing of the PARK16 locus in Parkinson's disease (2015)
Journal of Human Genetics, 60 (8), 405-406 - Defining neurodegeneration on Guam by targeted genomic sequencing (2015)
Annals of Neurology, 77 (3), 458-468 - DNAJC13 Genetic Variants in Parkinsonism (2015)
Movement Disorders, 30 (2), 273-278 - DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients (2015)
European Journal of Neurology, 22 (9), 1323-1325 - Incidence of Multiple Sclerosis and Related Disorders in Asian Populations of British Columbia (2015)
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 42 (4), 235-41 - VPS35 and DNAJC13 disease-causing variants in essential tremor (2015)
European Journal of Human Genetics, 23 (6), 887-888 - A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism (2014)
Neurobiology of Aging, 35 (5), 1125-1131 - A Novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy (2014)
Movement Disorders, 29 (9), 1201-1204 - Analysis of CYP27B1 in multiple sclerosis (2014)
Journal of Neuroimmunology, 266 (1-2), 64-66 - Analysis of nuclear export sequence regions of FUS-related RNA-binding proteins in Essential tremor (2014)
PLoS ONE, 9 (11) - Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism (2014)
Movement Disorders, - DNAJC13 mutations in Parkinson disease (2014)
Hum Mol Genet, 23 (7), 1794-801 - EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population (2014)
Parkinsonism and Related Disorders, 20 (6), 659-661 - Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression (2014)
Neurogenetics, 15 (3), 165-169 - Identification of FUS p.R377W in essential tremor (2014)
European Journal of Neurology, 21 (2), 361-363 - Progressive multiple sclerosis does not associate with rs996343 and rs2046748 (2014)
Multiple Sclerosis Journal, 20 (6), 766-767 - SLC1A2 rs3794087 does not associate with essential tremor (2014)
Neurobiology of Aging, 35 (4) - The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants (2014)
Neurobiology of Aging, 35 (1) - The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population (2014)
European Journal of Neurology, 21 (11), e91-e92 - Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease (2013)
Movement Disorders, 28 (6), 811-813 - Colony stimulation factor 1 receptor (CSF1R) is not a common cause of multiple sclerosis (2013)
European Journal of Neurology, 20 (9) - Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium (2013)
Movement Disorders, 28 (12), 1740-1744 - Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia (2013)
Acta Neuropathologica, 125 (3), 425-438 - STX6 rs1411478 is not associated with increased risk of Parkinson's disease (2013)
Parkinsonism and Related Disorders, 19 (5), 563-565 - A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (2012)
Journal of Medical Genetics, 49 (11), 721-726 - An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology (2012)
Journal of Neurology, Neurosurgery and Psychiatry, 83 (4), 424-429 - First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation (2012)
Parkinsonism and Related Disorders, 18 (4), 332-338 - Large-scale replication and heterogeneity in Parkinson disease genetic loci (2012)
Neurology, 79 (7), 659-667 - A family with parkinsonism, essential tremor, restless legs syndrome, and depression (2011)
Neurology, 76 (19), 1623-1630 - Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study (2011)
Lancet Neurology, 10 (10), 898-908 - Death-associated protein kinase 1 variation and Parkinson's disease (2011)
European Journal of Neurology, 18 (8), 1090-1093 - Genetic variants of α-synuclein are not associated with essential tremor (2011)
Movement Disorders, 26 (14), 2552-2556 - Genome-Wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1 (2011)
PLoS Genetics, 7 (7) - Glucocerebrosidase mutations in diffuse Lewy body disease (2011)
Parkinsonism and Related Disorders, 17 (1), 55-57 - Independent and joint effects of the MAPT and SNCA genes in Parkinson disease (2011)
Annals of Neurology, 69 (5), 778-792 - LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study (2011)
Neuropathology and Applied Neurobiology, 37 (7), 777-790 - Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America (2011)
Parkinsonism & Related Disorders, 17 (8), 629-631 - MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy (2011)
Neurology, 76 (7), 670-672 - SNCA, MAPT, and GSK3B in Parkinson disease: A gene-gene interaction study (2011)
European Journal of Neurology, 18 (6), 876-881 - Translation initiator EIF4G1 mutations in familial parkinson disease (2011)
American Journal of Human Genetics, 89 (3), 398-406 - VPS35 mutations in parkinson disease (2011)
American Journal of Human Genetics, 89 (1), 162-167 - A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease (2010)
Journal of Neurology, Neurosurgery and Psychiatry, 81 (4), 391-395 - An independent replication of park16 in asian samples (2010)
Neurology, 75 (24), 2248-2249 - Association of pyridoxal kinase and parkinson disease (2010)
Annals of Neurology, 67 (3), 409-411 - Association of the MAPT locus with Parkinson's disease (2010)
European Journal of Neurology, 17 (3), 483-486 - Association of α-, β-, and γ-synuclein with diffuse lewy body disease (2010)
Archives of Neurology, 67 (8), 970-975 - Calbindin-1 association and Parkinson's disease (2010)
European Journal of Neurology, 17 (2), 208-211 - Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa (2010)
Movement Disorders, 25 (13), 2052-2058 - Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease (2010)
Parkinsonism and Related Disorders, 16 (10), 686-687 - Glucocerebrosidase mutations are not a common risk factor for parkinson disease in North Africa (2010)
Neuroscience Letters, 477 (2), 57-60 - Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease (2010)
Mechanisms of Ageing and Development, 131 (3), 210-214 - Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor (2010)
Parkinsonism and Related Disorders, 16 (2), 112-114 - LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease (2010)
Neurogenetics, 11 (4), 401-408 - LINGO1 rs9652490 is associated with essential tremor and Parkinson disease (2010)
Parkinsonism and Related Disorders, 16 (2), 109-111 - LRRK2 variation and Parkinson's disease in African Americans (2010)
Movement Disorders, 25 (12), 1973-1992 - Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease (2010)
Neuroscience Letters, 486 (3), 228-230 - Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease (2010)
Movement Disorders, 25 (13), 2156-2163 - Reply to: SNCA variants are associated with increased risk of multiple system atrophy (2010)
Annals of Neurology, 67 (3), 414-415 - A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction (2009)
Parkinsonism and Related Disorders, 15 (9), 627-632 - Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population (2009)
Movement Disorders, 24 (16), 2411-2414 - ATP13A2 variability in Parkinson disease (2009)
Human Mutation, 30 (3), 406-410 - Characterization of DCTN1 genetic variability in neurodegeneration (2009)
Neurology, 72 (23), 2024-2028 - Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome (2009)
Mayo Clinic Proceedings, 84 (2), 134-138 - DCTN1 mutations in Perry syndrome (2009)
Nature Genetics, 41 (2), 163-165 - DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease (2009)
Neuroscience Letters, 461 (2), 74-75 - Meis1 p.r272h in familial restless legs syndrome (2009)
Neurology, 73 (3), 243-245 - Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy (2009)
Movement Disorders, 24 (12), 1868-1869 - Reported mutations in GIGYF2 are not a common cause of Parkinson's disease (2009)
Movement Disorders, 24 (4), 619-620 - A genetic risk factor for periodic limb movements in sleep [7] (2008)
New England Journal of Medicine, 358 (4), 425-427 - Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel (2008)
Journal of Neural Transmission, 115 (9), 1279-1284 - Dopamine β-hydroxylase -1021C>T association and Parkinson's disease (2008)
Parkinsonism and Related Disorders, 14 (7), 544-547 - Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis (2008)
Rheumatology, 47 (12), 1761-1767 - Genetic variation of Omi/HtrA2 and Parkinson's disease (2008)
Parkinsonism and Related Disorders, 14 (7), 539-543 - Susceptibility genes for restless legs syndrome are not associated with Parkinson disease (2008)
Neurology, 71 (3), 222-223 - Effect of an estrogen receptor-α intron 4 polymorphism on fat mass in 11-year-old children (2007)
Journal of Clinical Endocrinology and Metabolism, 92 (6), 2286-2291 - Estrogen receptor α regulates area-adjusted bone mineral content in late pubertal girls (2007)
Journal of Clinical Endocrinology and Metabolism, 92 (2), 641-647 - PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton (2007)
Calcified Tissue International, 81 (4), 270-278 - The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood (2007)
Calcified Tissue International, 81 (1), 1-9 - Germline mutation induction at mouse repeat DNA loci by chemical mutagens (2003)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 526 (1-2), 63-73 - A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension (2000)
Genomics, 68 (2), 220-228 - Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension (2000)
Nature Genetics, 26 (1), 81-84
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