Carles Vilariño-Güell

Author PubWeight™ 45.41‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 DCTN1 mutations in Perry syndrome. Nat Genet 2009 3.87
2 Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011 3.36
3 Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 2012 2.18
4 Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet 2011 2.00
5 Reported mutations in GIGYF2 are not a common cause of Parkinson's disease. Mov Disord 2009 1.43
6 Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol 2011 1.40
7 Genetic variation of Omi/HtrA2 and Parkinson's disease. Parkinsonism Relat Disord 2008 1.34
8 Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. PLoS Genet 2011 1.27
9 Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease. Mov Disord 2010 1.10
10 An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology. J Neurol Neurosurg Psychiatry 2012 1.09
11 A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease. J Neurol Neurosurg Psychiatry 2009 1.08
12 A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2008 1.08
13 STX6 rs1411478 is not associated with increased risk of Parkinson's disease. Parkinsonism Relat Disord 2013 1.01
14 The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood. Calcif Tissue Int 2007 1.00
15 Reply to: SNCA variants are associated with increased risk of multiple system atrophy. Ann Neurol 2010 1.00
16 Glucocerebrosidase mutations in diffuse Lewy body disease. Parkinsonism Relat Disord 2011 1.00
17 Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease. Arch Neurol 2010 0.95
18 Defining neurodegeneration on Guam by targeted genomic sequencing. Ann Neurol 2015 0.92
19 A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism Relat Disord 2009 0.91
20 A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 2012 0.90
21 Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging 2013 0.89
22 Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease. Parkinsonism Relat Disord 2010 0.88
23 Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. Neurosci Lett 2009 0.87
24 Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population. Mov Disord 2009 0.87
25 Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression. Neurogenetics 2014 0.85
26 Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease. Neurosci Lett 2010 0.85
27 Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease. Mech Ageing Dev 2010 0.85
28 Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor. Parkinsonism Relat Disord 2009 0.84
29 Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome. Mayo Clin Proc 2009 0.83
30 DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. Neurosci Lett 2009 0.83
31 DNAJC13 genetic variants in parkinsonism. Mov Disord 2014 0.83
32 Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism. Mov Disord 2014 0.81
33 Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathol 2012 0.81
34 Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa. Mov Disord 2010 0.81
35 First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation. Parkinsonism Relat Disord 2011 0.79
36 Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Mov Disord 2013 0.79
37 Association of pyridoxal kinase and Parkinson disease. Ann Neurol 2010 0.78
38 Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease. Parkinsonism Relat Disord 2008 0.78
39 Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America. Parkinsonism Relat Disord 2011 0.75
40 LRRK2 variation and Parkinson's disease in African Americans. Mov Disord 2010 0.75
41 Progressive multiple sclerosis does not associate with rs996343 and rs2046748. Mult Scler 2013 0.75
42 Nuclear Receptor NR1H3 in Familial Multiple Sclerosis. Neuron 2016 0.75
43 Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis. Neuron 2016 0.75