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1

SNCA variants are associated with increased risk for multiple system atrophy

Sonja W. Scholz, Henry Houlden, Claudia Schulte, Manu Sharma, Abi Li, Daniela Berg, Anna Melchers, Reema Paudel, J. Raphael Gibbs, Javier Simon-Sanchez, Coro Paisan-Ruiz, Jose Bras, Jinhui Ding, Hongl

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

2

Genomewide SNP assay reveals mutations underlying Parkinson disease

Javier Simon-Sanchez, Sonja Scholz, Maria del Mar Matarin, Hon-Chung Fung, Dena Hernandez, J Raphael Gibbs, Angela Britton, John Hardy, Andrew Singleton

Journal:

Year:

2008

Language:

english

File:

PDF, 434 KB

english, 2008

3

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

Javier Simón-Sánchez, José-Félix Martí-Massó, José Vicente Sánchez-Mut, Coro Paisán-Ruiz, Angel Martínez-Gil, Javier Ruiz-Martínez, Amets Sáenz, Andrew B. Singleton, Adolfo López de Munain, Jordi Pére

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

4

Profiling transcription initiation in human aged brain using deep-CAGE

Margherita Francescatto, Luba Pardo, Patrizia Rizzu, Morana Vitezic, Javier Simón-Sánchez, Hazuki Takahashi, Carsten Daub, Piero Carninci, Peter Heutink

Journal:

BMC Bioinformatics

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

5

Structural genomic variation in ischemic stroke

Mar Matarin, Javier Simon-Sanchez, Hon-Chung Fung, Sonja Scholz, J. Raphael Gibbs, Dena G. Hernandez, Cynthia Crews, Angela Britton, Fabienne Wavrant De Vrieze, Thomas G. Brott, Robert D. Brown, Bradf

Journal:

Year:

2008

Language:

english

File:

PDF, 190 KB

english, 2008

6

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease

M. A. Nalls, R. J. Guerreiro, J. Simon-Sanchez, J. T. Bras, B. J. Traynor, J. R. Gibbs, L. Launer, J. Hardy, A. B. Singleton

Journal:

Year:

2009

Language:

english

File:

PDF, 188 KB

english, 2009

7

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain

Javier Simón-Sánchez, Vicente Herranz-Pérez, Francisco Olucha-Bordonau, Jordi Pérez-Tur

Journal:

European Journal of Neuroscience

Year:

2006

Language:

english

File:

PDF, 651 KB

english, 2006

8

Genome-wide association study confirms extant PD risk loci among the Dutch

Simón-Sánchez, Javier, van Hilten, Jacobus J, van de Warrenburg, Bart, Post, Bart, Berendse, Henk W, Arepalli, Sampath, Hernandez, Dena G, de Bie, Rob M A, Velseboer, Daan, Scheffer, Hans

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 370 KB

english, 2011

9

Genome-wide association study reveals genetic risk underlying Parkinson's disease

Simón-Sánchez, Javier, Schulte, Claudia, Bras, Jose M, Sharma, Manu, Gibbs, J Raphael, Berg, Daniela, Paisan-Ruiz, Coro, Lichtner, Peter, Scholz, Sonja W, Hernandez, Dena G

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 559 KB

english, 2009

10

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

Hon-Chung Fung, Sonja Scholz, Mar Matarin, Javier Simón-Sánchez, Dena Hernandez, Angela Britton, J Raphael Gibbs, Carl Langefeld, Matt L Stiegert, Jennifer Schymick, Michael S Okun, Ronald J Mandel, H

Journal:

The Lancet Neurology

Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

11

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

Mar Matarín, W Mark Brown, Sonja Scholz, Javier Simón-Sánchez, Hon-Chung Fung, Dena Hernandez, J Raphael Gibbs, Fabienne Wavrant De Vrieze, Cynthia Crews, Angela Britton, Carl D Langefeld, Thomas G Br

Journal:

The Lancet Neurology

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

12

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Sarah Camargos, Sonja Scholz, Javier Simón-Sánchez, Coro Paisán-Ruiz, Patrick Lewis, Dena Hernandez, Jinhui Ding, J Raphael Gibbs, Mark R Cookson, Jose Bras, Rita Guerreiro, Catarina Resende Oliveira,

Journal:

The Lancet Neurology

Year:

2008

Language:

english

File:

PDF, 596 KB

english, 2008

13

Genome-wide association studies in neurological disorders

Javier Simón-Sánchez, Andrew Singleton

Journal:

The Lancet Neurology

Year:

2008

Language:

english

File:

PDF, 91 KB

english, 2008

14

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Elisa Majounie, Alan E Renton, Kin Mok, Elise GP Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C van Swieten, Yevgeniya Abramzon, J

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

15

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

Brooks, J, Ding, J, Simon-Sanchez, J, Paisan-Ruiz, C, Singleton, A B, Scholz, S W

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.73 MB

english, 2009

16

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

Simon-Sanchez, J., Dopper, E. G. P., Cohn-Hokke, P. E., Hukema, R. K., Nicolaou, N., Seelaar, H., de Graaf, J. R. A., de Koning, I., van Schoor, N. M., Deeg, D. J. H.

Journal:

Year:

2012

Language:

english

File:

PDF, 740 KB

english, 2012

17

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

Javier Simon-Sanchez, Melissa Hanson, Amanda Singleton, Dena Hernandez, Aideen McInerney, Robert Nussbaum, John Werner, Marisol Gallardo, Roberto Weiser, Katrina Gwinn-Hardy, Andrew B. Singleton, Jord

Journal:

Neuroscience Letters

Year:

2005

Language:

english

File:

PDF, 90 KB

english, 2005

18

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J. Raphael Gibbs, Jennifer C. Schymick, Hannu Laaksovirta, John C. van Swieten, Liisa Myllykangas, Hannu Kalimo, And

Journal:

Year:

2011

Language:

english

File:

PDF, 1.08 MB

english, 2011

19

Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities

Florian Mittag, Finja Büchel, Mohamad Saad, Andreas Jahn, Claudia Schulte, Zoltan Bochdanovits, Javier Simón-Sánchez, Mike A. Nalls, Margaux Keller, Dena G. Hernandez, J. Raphael Gibbs, Suzanne Lesage

Journal:

Year:

2012

Language:

english

File:

PDF, 369 KB

english, 2012

20

Cervical dystonia and genetic common variation in the dopamine pathway

Groen, Justus L., Simón-Sánchez, Javier, Ritz, Katja, Bochdanovits, Zoltán, Fang, Yue, van Hilten, Jacobus J., Aramideh, Majid, van de Warrenburg, Bart P., Boon, Agnita J.W., Baas, Frank, Heutink, Pet

Journal:

Parkinsonism & Related Disorders

Year:

2013

Language:

english

File:

PDF, 214 KB

english, 2013

21

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

Simon-Sanchez, J., Scholz, S., Fung, H.-C., Matarin, M., Hernandez, D., Gibbs, J. R., Britton, A., de Vrieze, F. W., Peckham, E., Gwinn-Hardy, K., Crawley, A., Keen, J. C., Nash, J., Borgaonkar, D., H

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 3.66 MB

english, 2006

22

Accurate prediction of a minimal region around a genetic association signal that contains the causal variant

Bochdanovits, Zoltán, Simón-Sánchez, Javier, Jonker, Marianne, Hoogendijk, Witte J, van der Vaart, Aad, Heutink, Peter

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.19 MB

english, 2014

23

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Klebe, S., Golmard, J.-L., Nalls, M. A., Saad, M., Singleton, A. B., Bras, J. M., Hardy, J., Simon-Sanchez, J., Heutink, P., Kuhlenbaumer, G., Charfi, R., Klein, C., Hagenah, J., Gasser, T., Wurster,

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2013

Language:

english

File:

PDF, 150 KB

english, 2013

24

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Keller, M. F., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., chel, F. B., Sharma, M., Gibbs, J. R., Schulte, C., Moskvina, V., Durr, A., Holmans, P., Kilarski, L. L.,

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 20 KB

english, 2013

25

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

Holmans, P., Moskvina, V., Jones, L., Sharma, M., Vedernikov, A., Buchel, F., Saad, M., Bras, J. M., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Gibbs, J. R., Schulte, C., Durr, A., Gue

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 20 KB

english, 2014

26

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

Holmans, P., Moskvina, V., Jones, L., Sharma, M., Vedernikov, A., Buchel, F., Sadd, M., Bras, J. M., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Gibbs, J. R., Schulte, C., Durr, A., Gue

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 142 KB

english, 2013

27

Lack of replication of association between GIGYF2 variants and Parkinson disease

Bras, J., Simon-Sanchez, J., Federoff, M., Morgadinho, A., Januario, C., Ribeiro, M., Cunha, L., Oliveira, C., Singleton, A. B.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 209 KB

english, 2008

28

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Keller, M. F., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Buchel, F., Sharma, M., Gibbs, J. R., Schulte, C., Moskvina, V., Durr, A., Holmans, P., Kilarski, L. L., G

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 23 KB

english, 2013

29

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

Simon-Sanchez, J., Singleton, A. B.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 75 KB

english, 2008

30

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

Nalls, Michael A., Simon-Sanchez, Javier, Gibbs, J. Raphael, Paisan-Ruiz, Coro, Bras, Jose Tomas, Tanaka, Toshiko, Matarin, Mar, Scholz, Sonja, Weitz, Charles, Harris, Tamara B., Ferrucci, Luigi, Hard

Journal:

Year:

2009

Language:

english

File:

PDF, 151 KB

english, 2009

31

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Keller, M. F., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Buchel, F., Sharma, M., Gibbs, J. R., Schulte, C., Moskvina, V., Durr, A., Holmans, P., Kilarski, L. L., G

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 253 KB

english, 2012

32

Parkinson disease GWAS: The question of lumping or splitting is back again

Simon-Sanchez, J., Gasser, T.

Journal:

Year:

2015

Language:

english

File:

PDF, 149 KB

english, 2015

33

Variation in PARK10 is not associated with risk and age at onset of Parkinson’s disease in large clinical cohorts

Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 4.88 MB

english, 2015

34

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

Blauwendraat, Cornelis, Wilke, Carlo, Jansen, Iris E., Schulte, Claudia, Simón-Sánchez, Javier, Metzger, Florian G., Bender, Benjamin, Gasser, Thomas, Maetzler, Walter, Rizzu, Patrizia, Heutink, Peter

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 632 KB

english, 2015

35

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R., Arepalli, S., Pandraud, A., Simon-Sanchez, J., Clayton, P., Reilly, M. M., Muntoni, F., Abramzon, Y., Ho

Journal:

Year:

2012

Language:

english

File:

PDF, 338 KB

english, 2012

36

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

Hanagasi, Hasmet A., Giri, Anamika, Guven, Gamze, Bilgiç, Başar, Hauser, Ann-Kathrin, Emre, Murat, Heutink, Peter, Basak, Nazlı, Gasser, Thomas, Simón-Sánchez, Javier, Lohmann, Ebba

Journal:

Parkinsonism & Related Disorders

Year:

2016

Language:

english

File:

PDF, 484 KB

english, 2016

37

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

Mok, Kin Y, Sheerin, Una, Simón-Sánchez, Javier, Salaka, Afnan, Chester, Lucy, Escott-Price, Valentina, Mantripragada, Kiran, Doherty, Karen M, Noyce, Alastair J, Mencacci, Niccolo E, Lubbe, Steven J,

Journal:

The Lancet Neurology

Year:

2016

Language:

english

File:

PDF, 218 KB

english, 2016

38

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

Rizzu, Patrizia, Blauwendraat, Cornelis, Heetveld, Sasja, Lynes, Emily M., Castillo-Lizardo, Melissa, Dhingra, Ashutosh, Pyz, Elwira, Hobert, Markus, Synofzik, Matthis, Simón-Sánchez, Javier, Francesc

Journal:

Acta Neuropathologica Communications

Year:

2016

Language:

english

File:

PDF, 2.19 MB

english, 2016

39

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1 -associated frontotemporal dementia: A longitudinal case report

Koriath, Carolin A.M., Bocchetta, Martina, Brotherhood, Emilie, Woollacott, Ione O.C., Norsworthy, Penny, Simón-Sánchez, Javier, Blauwendraat, Cornelis, Dick, Katrina M., Gordon, Elizabeth, Harding, S

Journal:

Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring

Year:

2017

Language:

english

File:

PDF, 2.23 MB

english, 2017

40

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

Blauwendraat, Cornelis, Wilke, Carlo, Simón-Sánchez, Javier, Jansen, Iris E, Reifschneider, Anika, Capell, Anja, Haass, Christian, Castillo-Lizardo, Melissa, Biskup, Saskia, Maetzler, Walter, Rizzu, P

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.02 MB

english, 2017

41

Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey

Kessler, Christoph, Atasu, Burcu, Hanagasi, Hasmet, Simón-Sánchez, Javier, Hauser, Ann-Kathrin, Pak, Meltem, Bilgic, Basar, Erginel-Unaltuna, Nihan, Gurvit, Hakan, Gasser, Thomas, Lohmann, Ebba

Journal:

Parkinsonism & Related Disorders

Year:

2017

Language:

english

File:

PDF, 347 KB

english, 2017

42

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

Blauwendraat, Cornelis, Francescatto, Margherita, Gibbs, J. Raphael, Jansen, Iris E., Simón-Sánchez, Javier, Hernandez, Dena G., Dillman, Allissa A., Singleton, Andrew B., Cookson, Mark R., Rizzu, Pat

Journal:

Genome Medicine

Year:

2016

Language:

english

File:

PDF, 1.46 MB

english, 2016

43

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype

Atasu, Burcu, Hanagasi, Hasmet, Bilgic, Basar, Pak, Meltem, Erginel-Unaltuna, Nihan, Hauser, Ann-Kathrin, Guven, Gamze, Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 313 KB

english, 2018

44

River Deltas as hotspots of microplastic accumulation: The case study of the Ebro River (NW Mediterranean)

Simon-Sánchez, Laura, Grelaud, Michaël, Garcia-Orellana, Jordi, Ziveri, Patrizia

Journal:

Science of The Total Environment

Year:

2019

File:

PDF, 1.43 MB

2019

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