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Javier Simón-Sánchez
Javier Simón-Sánchez
Hertie Institute for Clinical Brain Research (HIH)
Verified email at dzne.de
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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
46862011
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
27532004
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), 1308-1312, 2009
21782009
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
14962019
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
12942012
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
10132008
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
10002011
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
D Melzer, JRB Perry, D Hernandez, AM Corsi, K Stevens, I Rafferty, ...
PLoS genetics 4 (5), e1000072, 2008
5432008
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
4662006
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
4042016
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
3782014
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
3682017
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
3292012
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
3182009
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 genetics 3 (6), e108, 2007
3142007
Parkinson's disease age at onset genome‐wide association study: defining heritability, genetic loci, and α‐synuclein mechanisms
C Blauwendraat, K Heilbron, CL Vallerga, S Bandres‐Ciga, R Von Coelln, ...
Movement Disorders 34 (6), 866-875, 2019
2842019
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
2802007
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
2572008
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
2502007
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
2332012
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