Carles Vilarino-Guell
TitleCited byYear
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
13432000
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
6362011
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
4182013
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
2682011
DCTN1 mutations in Perry syndrome
MJ Farrer, MM Hulihan, JM Kachergus, JC Dächsel, AJ Stoessl, ...
Nature genetics 41 (2), 163, 2009
2612009
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
2172011
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
2052014
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), 2011
1692011
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 (4), 401-408, 2010
1222010
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
1202012
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
1032010
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
1032003
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
942011
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
822010
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
812009
Genetic variation of Omi/HtrA2 and Parkinson's disease
OA Ross, AI Soto, C Vilariño-Güell, MG Heckman, NN Diehl, MM Hulihan, ...
Parkinsonism & related disorders 14 (7), 539-543, 2008
752008
Peripheral neuropathy in Parkinson's disease: levodopa exposure and implications for duodenal delivery
T Müller, T van Laar, DR Cornblath, P Odin, F Klostermann, FJ Grandas, ...
Parkinsonism & related disorders 19 (5), 501-507, 2013
732013
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
702012
Association of α-, β-, and γ-synuclein with diffuse Lewy body disease
K Nishioka, C Wider, C Vilarino-Güell, AI Soto-Ortolaza, SJ Lincoln, ...
Archives of neurology 67 (8), 970-975, 2010
652010
Nuclear receptor NR1H3 in familial multiple sclerosis
Z Wang, AD Sadovnick, AL Traboulsee, JP Ross, CQ Bernales, ...
Neuron 90 (5), 948-954, 2016
632016
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