Carles Vilarino-Guell
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Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
KB Lane, RD Machado, MW Pauciulo, JR Thomson, JA Phillips, JE Loyd, ...
Nature genetics 26 (1), 81-84, 2000
VPS35 mutations in Parkinson disease
C Vilariño-Güell, C Wider, OA Ross, JC Dachsel, JM Kachergus, ...
The American Journal of Human Genetics 89 (1), 162-167, 2011
Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
S Appel‐Cresswell, C Vilarino‐Guell, M Encarnacion, H Sherman, I Yu, ...
Movement disorders 28 (6), 811-813, 2013
Translation initiator EIF4G1 mutations in familial Parkinson disease
MC Chartier-Harlin, JC Dachsel, C Vilariño-Güell, SJ Lincoln, F Leprêtre, ...
The American Journal of Human Genetics 89 (3), 398-406, 2011
DCTN1 mutations in Perry syndrome
MJ Farrer, MM Hulihan, JM Kachergus, JC Dächsel, AJ Stoessl, ...
Nature genetics 41 (2), 163-165, 2009
DNAJC13 mutations in Parkinson disease
C Vilariño-Güell, A Rajput, AJ Milnerwood, B Shah, C Szu-Tu, J Trinh, I Yu, ...
Human molecular genetics 23 (7), 1794-1801, 2014
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ...
The Lancet Neurology 10 (10), 898-908, 2011
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12. 1
J Winkelmann, D Czamara, B Schormair, F Knauf, EC Schulte, ...
PLoS genetics 7 (7), e1002171, 2011
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
C Vilariño-Güell, C Wider, OA Ross, B Jasinska-Myga, J Kachergus, ...
neurogenetics 11, 401-408, 2010
Large-scale replication and heterogeneity in Parkinson disease genetic loci
M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, ...
Neurology 79 (7), 659-667, 2012
Novel pathogenic LRRK2 p. Asn1437His substitution in familial Parkinson's disease
JO Aasly, C Vilariño‐Güell, JC Dachsel, PJ Webber, AB West, ...
Movement disorders 25 (13), 2156-2163, 2010
Heterozygous PINK1 p. G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
A Puschmann, FC Fiesel, TR Caulfield, R Hudec, M Ando, D Truban, ...
Brain 140 (1), 98-117, 2017
A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction
A Puschmann, OA Ross, C Vilariño-Güell, SJ Lincoln, JM Kachergus, ...
Parkinsonism & related disorders 15 (9), 627-632, 2009
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
A Elbaz, OA Ross, JPA Ioannidis, AI Soto‐Ortolaza, F Moisan, J Aasly, ...
Annals of neurology 69 (5), 778-792, 2011
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, L Bertram, M Bozi, ...
Journal of medical genetics 49 (11), 721-726, 2012
Nuclear receptor NR1H3 in familial multiple sclerosis
Z Wang, AD Sadovnick, AL Traboulsee, JP Ross, CQ Bernales, ...
Neuron 90 (5), 948-954, 2016
Germline mutation induction at mouse repeat DNA loci by chemical mutagens
C Vilariño-Güell, AG Smith, YE Dubrova
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 526 (1 …, 2003
LINGO1 rs9652490 is associated with essential tremor and Parkinson disease
C Vilariño-Güell, OA Ross, C Wider, B Jasinska-Myga, SA Cobb, ...
Parkinsonism & related disorders 16 (2), 109-111, 2010
Genome-wide association study in essential tremor identifies three new loci
SH Müller, SL Girard, F Hopfner, ND Merner, CV Bourassa, D Lorenz, ...
Brain 139 (12), 3163-3169, 2016
A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p. G2019S parkinsonism
J Trinh, R Amouri, JE Duda, JF Morley, M Read, A Donald, ...
Neurobiology of aging 35 (5), 1125-1131, 2014
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