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
Published in Movement disorders (01.08.2018)
Published in Movement disorders (01.08.2018)
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ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies
Blauwendraat, Cornelis, Nalls, Mike A., Federoff, Monica, Pletnikova, Olga, Ding, Jinhui, Letson, Christopher, Geiger, Joshua T., Gibbs, J. Raphael, Hernandez, Dena G., Troncoso, Juan C., Simón‐Sánchez, Javier, Scholz, Sonja W.
Published in Movement disorders (01.02.2017)
Published in Movement disorders (01.02.2017)
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Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities
Mittag, Florian, Büchel, Finja, Saad, Mohamad, Jahn, Andreas, Schulte, Claudia, Bochdanovits, Zoltan, Simón-Sánchez, Javier, Nalls, Mike A., Keller, Margaux, Hernandez, Dena G., Gibbs, J. Raphael, Lesage, Suzanne, Brice, Alexis, Heutink, Peter, Martinez, Maria, Wood, Nicholas W, Hardy, John, Singleton, Andrew B., Zell, Andreas, Gasser, Thomas, Sharma, Manu
Published in Human mutation (01.12.2012)
Published in Human mutation (01.12.2012)
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PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism
Giri, Anamika, Guven, Gamze, Hanagasi, Hasmet, Hauser, Ann-Kathrin, Erginul-Unaltuna, Nihan, Bilgic, Basar, Gurvit, Hakan, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba, Simón-Sánchez, Javier
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01.01.2016)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01.01.2016)
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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, Patrizia, Heutink, Peter, Synofzik, Matthis
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
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SNCA variants are associated with increased risk for multiple system atrophy
Scholz, Sonja W., Houlden, Henry, Schulte, Claudia, Sharma, Manu, Li, Abi, Berg, Daniela, Melchers, Anna, Paudel, Reema, Gibbs, J. Raphael, Simon-Sanchez, Javier, Paisan-Ruiz, Coro, Bras, Jose, Ding, Jinhui, Chen, Honglei, Traynor, Bryan J., Arepalli, Sampath, Zonozi, Ryan R., Revesz, Tamas, Holton, Janice, Wood, Nick, Lees, Andrew, Oertel, Wolfgang, Wüllner, Ullrich, Goldwurm, Stefano, Pellecchia, Maria Teresa, Illig, Thomas, Riess, Olaf, Fernandez, Hubert H., Rodriguez, Ramon L., Okun, Michael S., Poewe, Werner, Wenning, Gregor K., Hardy, John A., Singleton, Andrew B., Gasser, Thomas
Published in Annals of neurology (01.05.2009)
Published in Annals of neurology (01.05.2009)
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A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Hanagasi, Hasmet A, Giri, Anamika, Kartal, Ece, Guven, Gamze, Bilgiç, Başar, Hauser, Ann-Kathrin, Emre, Murat, Heutink, Peter, Basak, Nazlı, Gasser, Thomas, Simón-Sánchez, Javier, Lohmann, Ebba
Published in Parkinsonism & related disorders (01.08.2016)
Published in Parkinsonism & related disorders (01.08.2016)
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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
Published in Parkinsonism & related disorders (01.03.2018)
Published in Parkinsonism & related disorders (01.03.2018)
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Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
Simon-Sanchez, Javier, Scholz, Sonja, Fung, Hon-Chung, Matarin, Mar, Hernandez, Dena, Gibbs, J. Raphael, Britton, Angela, de Vrieze, Fabienne Wavrant, Peckham, Elizabeth, Gwinn-Hardy, Katrina, Crawley, Anthony, Keen, Judith C., Nash, Josefina, Borgaonkar, Digamber, Hardy, John, Singleton, Andrew
Published in Human molecular genetics (01.01.2007)
Published in Human molecular genetics (01.01.2007)
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Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk
Moskvina, Valentina, Harold, Denise, Russo, GianCarlo, Vedernikov, Alexey, Sharma, Manu, Saad, Mohamed, Holmans, Peter, Bras, Jose M, Bettella, Francesco, Keller, Margaux F, Nicolaou, Nayia, Simón-Sánchez, Javier, Gibbs, J Raphael, Schulte, Claudia, Durr, Alexandra, Guerreiro, Rita, Hernandez, Dena, Brice, Alexis, Stefánsson, Hreinn, Majamaa, Kari, Gasser, Thomas, Heutink, Peter, Wood, Nick, Martinez, Maria, Singleton, Andrew B, Nalls, Michael A, Hardy, John, Owen, Michael J, O'Donovan, Michael C, Williams, Julie, Morris, Huw R, Williams, Nigel M
Published in JAMA neurology (01.10.2013)
Published in JAMA neurology (01.10.2013)
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A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes
Menden, Kevin, Francescatto, Margherita, Nyima, Tenzin, Blauwendraat, Cornelis, Dhingra, Ashutosh, Castillo-Lizardo, Melissa, Fernandes, Noémia, Kaurani, Lalit, Kronenberg-Versteeg, Deborah, Atasu, Burcu, Sadikoglou, Eldem, Borroni, Barbara, Rodriguez-Nieto, Salvador, Simon-Sanchez, Javier, Fischer, Andre, Craig, David Wesley, Neumann, Manuela, Bonn, Stefan, Rizzu, Patrizia, Heutink, Peter
Published in Scientific data (01.12.2023)
Published in Scientific data (01.12.2023)
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Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus
Trabzuni, Daniah, Ryten, Mina, Emmett, Warren, Ramasamy, Adaikalavan, Lackner, Karl J, Zeller, Tanja, Walker, Robert, Smith, Colin, Lewis, Patrick A, Mamais, Adamantios, de Silva, Rohan, Vandrovcova, Jana, Hernandez, Dena, Nalls, Michael A, Sharma, Manu, Garnier, Sophie, Lesage, Suzanne, Simon-Sanchez, Javier, Gasser, Thomas, Heutink, Peter, Brice, Alexis, Singleton, Andrew, Cai, Huaibin, Schadt, Eric, Wood, Nicholas W, Bandopadhyay, Rina, Weale, Michael E, Hardy, John, Plagnol, Vincent
Published in PloS one (13.08.2013)
Published in PloS one (13.08.2013)
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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, Patrizia, Heutink, Peter
Published in Genome medicine (10.06.2016)
Published in Genome medicine (10.06.2016)
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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, Hardy, John, Singleton, Andrew B
Published in PLoS genetics (01.03.2009)
Published in PLoS genetics (01.03.2009)
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Lack of replication of association between GIGYF2 variants and Parkinson disease
Bras, Jose, Simón-Sánchez, Javier, Federoff, Monica, Morgadinho, Ana, Januario, Cristina, Ribeiro, Maria, Cunha, Luis, Oliveira, Catarina, Singleton, Andrew B.
Published in Human molecular genetics (15.01.2009)
Published in Human molecular genetics (15.01.2009)
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Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
Fung, Hon-Chung, Scholz, Sonja, Matarin, Mar, Simón-Sánchez, Javier, Hernandez, Dena, Britton, Angela, Gibbs, J Raphael, Langefeld, Carl, Stiegert, Matt L, Schymick, Jennifer, Okun, Michael S, Mandel, Ronald J, Fernandez, Hubert H, Foote, Kelly D, Rodríguez, Ramón L, Peckham, Elizabeth, De Vrieze, Fabienne Wavrant, Gwinn-Hardy, Katrina, Hardy, John A, Singleton, Andrew
Published in Lancet neurology (01.11.2006)
Published in Lancet neurology (01.11.2006)
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Genomewide SNP assay reveals mutations underlying Parkinson disease
Simon-Sanchez, Javier, Scholz, Sonja, del Mar Matarin, Maria, Fung, Hon-Chung, Hernandez, Dena, Gibbs, J Raphael, Britton, Angela, Hardy, John, Singleton, Andrew
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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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, Peter, Tijssen, Marina A.J
Published in Parkinsonism & related disorders (01.03.2013)
Published in Parkinsonism & related disorders (01.03.2013)
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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., Guerreiro, R., Hernandez, D., Brice, A., Stefansson, H., Majamaa, K., Gasser, T., Heutink, P., Wood, N. W., Martinez, M., Singleton, A. B., Nalls, M. A., Hardy, J., Morris, H. R., Williams, N. M.
Published in Human molecular genetics (15.01.2014)
Published in Human molecular genetics (15.01.2014)
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