Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease von JOHNSON, Janel O, RAPHAEL GIBBS, J, REILLY, Mary M, MUNTONI, Francesco, ABRAMZON, Yevgeniya, HOULDEN, Henry, SINGLETON, Andrew B, MEGARBANE, Andre, ANDONI URTIZBEREA, J, HERNANDEZ, Dena G, REGHAN FOLEY, A, AREPALLI, Sampath, PANDRAUD, Amelie, SIMON-SANCHEZ, Javier, CLAYTON, Peter

Volltext

Assessment of the impact of a personalised nutrition intervention in impaired glucose regulation over 26 weeks: a randomised controlled trial von Karvela, Maria, Golden, Caroline T., Bell, Nikeysha, Martin-Li, Stephanie, Bedzo-Nutakor, Judith, Bosnic, Natalie, DeBeaudrap, Pierre, de Mateo-Lopez, Sara, Alajrami, Ahmed, Qin, Yun, Eze, Maria, Hon, Tsz-Kin, Simón-Sánchez, Javier, Sahoo, Rashmita, Pearson-Stuttard, Jonathan, Soon-Shiong, Patrick, Toumazou, Christofer, Oliver, Nick

Volltext

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

Volltext

Genome-wide association study confirms extant PD risk loci among the Dutch von 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, Bloem, Bas, van Dijk, Karin D, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, André G, Rizzu, Patrizia, Bochdanovits, Zoltan, Singleton, Andrew B, Heutink, Peter

Volltext

Genome-wide association studies in neurological disorders von Simón-Sánchez, Javier, MS, Singleton, Andrew, PhD

Volltext

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers von Rizzu, Patrizia, Blauwendraat, Cornelis, Heetveld, Sasja, Lynes, Emily M, Castillo-Lizardo, Melissa, Dhingra, Ashutosh, Pyz, Elwira, Hobert, Markus, Synofzik, Matthis, Simón-Sánchez, Javier, Francescatto, Margherita, Heutink, Peter

Volltext

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques von Simón-Sánchez, Javier, Martí-Massó, José-Félix, Sánchez-Mut, José Vicente, Paisán-Ruiz, Coro, Martínez-Gil, Angel, Ruiz-Martínez, Javier, Sáenz, Amets, Singleton, Andrew B., López de Munain, Adolfo, Pérez-Tur, Jordi

Volltext

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release von Matarín, Mar, PhD, Brown, W Mark, MA, Scholz, Sonja, MD, Simón-Sánchez, Javier, BS, Fung, Hon-Chung, MD, Hernandez, Dena, MS, Gibbs, J Raphael, BS, De Vrieze, Fabienne Wavrant, PhD, Crews, Cynthia, Britton, Angela, MS, Langefeld, Carl D, PhD, Brott, Thomas G, MD, Brown, Robert D, MD, Worrall, Bradford B, MD, Frankel, Michael, MD, Silliman, Scott, MD, Case, L Douglas, PhD, Singleton, Andrew, Dr, Hardy, John A, PhD, Rich, Stephen S, PhD, Meschia, James F, MD

Volltext

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain von Simón-Sánchez, Javier, Herranz-Pérez, Vicente, Olucha-Bordonau, Francisco, Pérez-Tur, Jordi

Volltext

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1 -associated frontotemporal dementia: A longitudinal case report von 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, Sophie R, Fox, Nick C, Crutch, Sebastian, Warren, Jason D, Revesz, Tamas, Lashley, Tammaryn, Mead, Simon, Rohrer, Jonathan D

Volltext

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease von Simón-Sánchez, Javier, Kilarski, Laura L, Nalls, Michael A, Martinez, Maria, Schulte, Claudia, Holmans, Peter, Gasser, Thomas, Hardy, John, Singleton, Andrew B, Wood, Nicholas W, Brice, Alexis, Heutink, Peter, Williams, Nigel, Morris, Huw R

Volltext

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts von Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas

Volltext

Parkinson disease GWAS: The question of lumping or splitting is back again von Simón-Sánchez, Javier, Gasser, Thomas

Volltext

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls von Simón-Sánchez, Javier, Singleton, Andrew B.

Volltext

Lack of Evidence for a Role of Genetic Variation in TMEM230 in the Risk for Parkinson’s disease in the Caucasian Population von Giri, Anamika, MS, Mok, Kin Y., FRCP, Jansen, Iris, MS, Sharma, Manu, PhD, Tesson, Christelle, PhD, Mangone, Graziella, MD, PhD, Lesage, Suzanne, PhD, Bras, José M., PhD, Shulman, Josua, PhD, Sheerin, Una-Marie, MRCP, Díez-Fairen, Mónica, MS, Pastor, Pau, MD, PhD, Tolosa, Eduardo, MD, PhD, Ferreira, Joaquim, MD, PhD, Amin, Najaf, PhD, van Duijn, Cornelia M., PhD, van Rooij, Jeroen, BSc, Uitterlinden, André G., PhD, Kraaij, Robert, PhD, Nalls, Michael, PhD, Simón-Sánchez, Javier, PhD

Volltext

Accurate prediction of a minimal region around a genetic association signal that contains the causal variant von Bochdanovits, Zoltán, Simón-Sánchez, Javier, Jonker, Marianne, Hoogendijk, Witte J, van der Vaart, Aad, Heutink, Peter

Volltext

HPCA confirmed as a genetic cause of DYT2‐like dystonia phenotype von 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

Volltext

DYT16 , a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA von Camargos, Sarah, MD, Scholz, Sonja, MD, Simón-Sánchez, Javier, MS, Paisán-Ruiz, Coro, PhD, Lewis, Patrick, PhD, Hernandez, Dena, MS, Ding, Jinhui, PhD, Gibbs, J Raphael, BA, Cookson, Mark R, PhD, Bras, Jose, MS, Guerreiro, Rita, MS, Oliveira, Catarina Resende, MD, Lees, Andrew, MD, Hardy, John, PhD, Cardoso, Francisco, MD, Singleton, Andrew B, PhD

Volltext

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies von Vallerga, Costanza L, Tan, Manuela, Kia, Demis A, Xue, Angli, Young, Emily, Sharma, Manu, Krohn, Lynne, Siitonen, Ari, Iwaki, Hirotaka, Leonard, Hampton, Botia, Juan A, Martinez, Maria, Jankovic, Joseph, Sutherland, Margaret, Majamaa, Kari, Andreassen, Ole A, Gan-Or, Ziv, Gasser, Thomas, Heutink, Peter, Gratten, Jacob, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Bergareche Yarza, Jesús Alberto, Billingsley, Kimberley, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Bubb, Vivien, Buiza-Rueda, Dolores, Cerdan, Debora, Chelban, Viorica, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Escott-Price, Valentina, Ezquerra, Mario, Fernández, Manel, Fernández-Santiago, Rubén, Gan-Or, Ziv, Garcia, Ciara, García-Ruiz, Pedro, Hernandez, Dena G, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Kaiyrzhanov, Rauan, Kia, Demis A, Leonard, Hampton L, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Majamaa, Kari, Manzoni, Claudia, Marti, Maria Jose, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Muñoz, Esteban, Pagola, Ana Gorostidi, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Reed, Xylena, Rezola, Elisabet Mondragon, Rodriguez, Antonio Sanchez, Ruiz-Martínez, Javier, Sadykova, Dinara, Shashkin, Chingiz, Sierra, María, Simón-Sánchez, Javier, Singleton, Andrew B, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tolosa, Eduard, van Hilten, Jacobus J, Vargas-González, Laura, Wood, Nicholas W, Zimprich, Alexander, Reich, Stephen, Savitt, Joseph, Bryc, Katarzyna, Hicks, Barry, Jiang, Yunxuan, McCreight, Jennifer C., McIntyre, Matthew H., Noblin, Elizabeth S., Sathirapongsasuti, J. Fah, Tung, Joyce, Anderson, Tim, Bentley, Steven, Kennedy, Martin, Mellick, George, Sidorenko, Julia, Silburn, Peter A., Visscher, Peter M., Yang, Jian

Volltext

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets von Kia, Demis A, Zhang, David, Guelfi, Sebastian, Manzoni, Claudia, Hubbard, Leon, Reynolds, Regina H, Botía, Juan, Ryten, Mina, Ferrari, Raffaele, Lewis, Patrick A, Williams, Nigel, Trabzuni, Daniah, Hardy, John, Wood, Nicholas W

Volltext