Suchergebnisse - "Simón‐Sánchez, Javier"

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

“… Dietary interventions can reduce progression to type 2 diabetes mellitus (T2DM) in people with non-diabetic hyperglycaemia. In this study we aimed to determine …”
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease von Johnson, Janel O, Gibbs, J Raphael, Megarbane, Andre, Urtizberea, J Andoni, Hernandez, Dena G, Foley, A Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M, Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B

“… Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in …”
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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

“… Early-onset Alzheimer's disease (EOAD) accounts for 1%–2% of all Alzheimer's disease (AD) subjects, with large variation in the reported genetic contribution …”
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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

“… In view of the population-specific heterogeneity in reported genetic risk factors for Parkinson's disease (PD), we conducted a genome-wide association study …”
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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

“… A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting …”
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Genome-wide association studies in neurological disorders von Simón-Sánchez, Javier, Singleton, Andrew

“… During the past decade, the genetic causes of monogenic forms of disease have been successfully defined; this work has helped the progression of basic …”
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A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release von Matarín, Mar, Brown, W Mark, Scholz, Sonja, Simón-Sánchez, Javier, Fung, Hon-Chung, Hernandez, Dena, Gibbs, J Raphael, De Vrieze, Fabienne Wavrant, Crews, Cynthia, Britton, Angela, Langefeld, Carl D, Brott, Thomas G, Brown, Robert D, Worrall, Bradford B, Frankel, Michael, Silliman, Scott, Case, L Douglas, Singleton, Andrew, Hardy, John A, Rich, Stephen S, Meschia, James F

“… Despite evidence of a genetic role in stroke, the identification of common genetic risk factors for this devastating disorder remains problematic. We aimed to …”
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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

“… The leucine‐rich repeat kinase 2 (LRRK2) gene was recently found to have multiple mutations that are causative for autosomal dominant inherited Parkinson's …”
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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

“… Abstract Introduction Mutations in the TANK-binding kinase 1 ( TBK1 ) gene have recently been shown to cause frontotemporal dementia (FTD). However, the …”
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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

“… The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single …”
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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.

“… Parkinson's disease (PD) occurs in both familial and sporadic forms, and both monogenic and complex genetic factors have been identified. Early onset PD (EOPD) …”
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Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights von Atasu, Burcu, Simón-Sánchez, Javier, Hanagasi, Hasmet, Bilgic, Basar, Hauser, Ann-Kathrin, Guven, Gamze, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba

“… BackgroundDystonia is one of the most common movement disorders. To date, the genetic causes of dystonia in populations of European descent have been …”
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PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism von 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

“… PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal …”
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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

“… A recent study in autopsy-confirmed Parkinson's disease (PD) patients and controls revived the debate about the role of PARK10 in this disorder. In an attempt …”
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Parkinson disease GWAS: the question of lumping or splitting is back again von Simón-Sánchez, Javier, Gasser, Thomas

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

“… A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German …”
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DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA von Camargos, Sarah, Scholz, Sonja, Simón-Sánchez, Javier, Paisán-Ruiz, Coro, Lewis, Patrick, Hernandez, Dena, Ding, Jinhui, Gibbs, J Raphael, Cookson, Mark R, Bras, Jose, Guerreiro, Rita, Oliveira, Catarina Resende, Lees, Andrew, Hardy, John, Cardoso, Francisco, Singleton, Andrew B

“… Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations that underlie these diseases may help to …”
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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

“… In recent years, genome-wide association studies have been very successful in identifying loci for complex traits. However, typically these findings involve …”
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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

“… Background: HPCA (hippocalcin) is one of the underlying genetic causes of autosomal‐recessively inherited forms of dystonia. Here, we describe two …”
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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

“… Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed …”
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