Javier Simón-Sánchez
Javier Simón-Sánchez
Hertie Institute for Clinical Brain Research (HIH)
Verified email at dzne.de
Title
Cited by
Cited by
Year
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
31672011
Cloning of the Gene Containing Mutations that Cause< i> PARK8</i>-Linked Parkinson's Disease
C Paisán-Ruı́z, S Jain, EW Evans, WP Gilks, J Simón, M Van Der Brug, ...
Neuron 44 (4), 595-600, 2004
21872004
Genome-wide association study reveals genetic risk underlying Parkinson's disease
J Simon-Sanchez, C Schulte, JM Bras, M Sharma, JR Gibbs, D Berg, ...
Nature genetics 41 (12), 1308, 2009
16392009
Genotype, haplotype and copy-number variation in worldwide human populations
M Jakobsson, SW Scholz, P Scheet, JR Gibbs, JM VanLiere, HC Fung, ...
Nature 451 (7181), 998-1003, 2008
8862008
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ...
The Lancet Neurology 11 (4), 323-330, 2012
8692012
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
International Parkinson Disease Genomics Consortium
The Lancet 377 (9766), 641-649, 2011
7872011
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
D Melzer, JRB Perry, D Hernandez, AM Corsi, K Stevens, I Rafferty, ...
PLoS Genet 4 (5), e1000072, 2008
4112008
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
HC Fung, S Scholz, M Matarin, J Simón-Sánchez, D Hernandez, A Britton, ...
The Lancet Neurology 5 (11), 911-916, 2006
3952006
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ...
Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014
2622014
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
J Simón-Sánchez, EGP Dopper, PE Cohn-Hokke, RK Hukema, ...
Brain 135 (3), 723-735, 2012
2572012
SNCA variants are associated with increased risk for multiple system atrophy
SW Scholz, H Houlden, C Schulte, M Sharma, A Li, D Berg, A Melchers, ...
Annals of Neurology: Official Journal of the American Neurological …, 2009
2572009
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
J Van De Leemput, J Chandran, MA Knight, LA Holtzclaw, S Scholz, ...
PLoS Genet 3 (6), e108, 2007
2502007
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
J Simon-Sanchez, S Scholz, HC Fung, M Matarin, D Hernandez, JR Gibbs, ...
Human molecular genetics 16 (1), 1-14, 2007
2352007
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release
M Matarín, WM Brown, S Scholz, J Simón-Sánchez, HC Fung, ...
The Lancet Neurology 6 (5), 414-420, 2007
2212007
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
S Camargos, S Scholz, J Simón-Sánchez, C Paisán-Ruiz, P Lewis, ...
The Lancet Neurology 7 (3), 207-215, 2008
1872008
Genome-wide association study confirms extant PD risk loci among the Dutch
J Simón-Sánchez, JJ Van Hilten, B Van De Warrenburg, B Post, ...
European Journal of Human Genetics 19 (6), 655-661, 2011
1742011
A two-stage meta-analysis identifies several new loci for Parkinson's disease
International Parkinson's Disease Genomics Consortium, ...
PLoS Genet 7 (6), e1002142, 2011
1682011
Loss of VPS13C function in autosomal-recessive Parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy
S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ...
The American Journal of Human Genetics 98 (3), 500-513, 2016
1672016
Using genome-wide complex trait analysis to quantify ‘missing heritability’in Parkinson's disease
MF Keller, M Saad, J Bras, F Bettella, N Nicolaou, J Simón-Sánchez, ...
Human molecular genetics 21 (22), 4996-5009, 2012
1662012
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ...
Brain 140 (12), 3191-3203, 2017
1362017
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