Risultati della ricerca - Gibbs, J. Raphael

Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond di Gibbs, J. Raphael, Singleton, Andrew

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Another locus, a new method di Singleton, Andrew B., Gibbs, J. Raphael

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Exome Sequencing in Brown-Vialetto-Van Laere Syndrome di Johnson, Janel O., Gibbs, J. Raphael, Van Maldergem, Lionel, Houlden, Henry, Singleton, Andrew B.

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MIDN locus structural variants and Parkinson's Disease risk di Billingsley, Kimberley J., Bandres‐Ciga, Sara, Ding, Jinhui, Hernandez, Dena, Gibbs, J. Raphael, Blauwendraat, Cornelis

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Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer’s disease data set di Ghani, Mahdi, Sato, Christine, Kakhki, Erfan Ghani, Gibbs, J. Raphael, Traynor, Bryan, George-Hyslop, Peter, Rogaeva, Ekaterina

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Replication assessment of NUS1 variants in Parkinson’s disease di Bustos, Bernabe I., Bandres-Ciga, Sara, Gibbs, J. Raphael, Krainc, Dimitri, Mencacci, Niccolo E., Gan-Or, Ziv, Lubbe, Steven J.

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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy di Caress, James B., Johnson, Janel O., Abramzon, Yevgeniya A., Hawkins, Gregory A., Gibbs, J. Raphael, Sullivan, Elizabeth A., Chahal, Chamanpreet S., Traynor, Bryan J.

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Messenger RNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex di Dillman, Allissa A., Hauser, David N., Gibbs, J. Raphael, Nalls, Michael A., McCoy, Melissa K., Rudenko, Iakov N., Galter, Dagmar, Cookson, Mark R.

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Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging di Dillman, Allissa A., Majounie, Elisa, Ding, Jinhui, Gibbs, J. Raphael, Hernandez, Dena, Arepalli, Sampath, Traynor, Bryan J., Singleton, Andrew B., Galter, Dagmar, Cookson, Mark R.

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Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia di Sassi, Celeste, Capozzo, Rosa, Hammer, Monia, Zecca, Chiara, Federoff, Monica, Blauwendraat, Cornelis, Bernstein, Nick, Ding, Jinhui, Gibbs, J. Raphael, Price, Timothy, Singleton, Andrew, Logroscino, Giancarlo

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Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis di Johnson, Janel O., Glynn, Shannon M., Gibbs, J. Raphael, Nalls, Mike A., Sabatelli, Mario, Restagno, Gabriella, Drory, Vivian E., Chiò, Adriano, Rogaeva, Ekaterina, Traynor, Bryan J.

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A 7.5Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome di Johnson, Janel O, Stevanin, Giovanni, van de Leemput, Joyce, Hernandez, Dena G, Arepalli, Sampath, Forlani, Sylvie, Zonozi, Ryan, Gibbs, J. Raphael, Brice, Alexis, Durr, Alexandra, Singleton, Andrew B

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

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Age associated changes in gene expression in human brain and isolated neurons di Kumar, Azad, Gibbs, J. Raphael, Beilina, Alexandra, Dillman, Allissa, Kumaran, Ravindran, Trabzuni, Daniah, Ryten, Mina, Walker, Robert, Smith, Colin, Traynor, Bryan J., Hardy, John, Singleton, Andrew B., Cookson, Mark R

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ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies di 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.

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Penetrance of Parkinson’s Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score di Iwaki, Hirotaka, Blauwendraat, Cornelis, Makarious, Mary B., Bandrés-Ciga, Sara, Leonard, Hampton L., Gibbs, J. Raphael, Hernandez, Dena G., Scholz, Sonja W., Faghri, Faraz, Nalls, Mike A., Singleton, Andrew B.

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Distinct DNA methylation changes highly correlated with chronological age in the human brain di Hernandez, Dena G., Nalls, Michael A., Gibbs, J. Raphael, Arepalli, Sampath, van der Brug, Marcel, Chong, Sean, Moore, Matthew, Longo, Dan L., Cookson, Mark R., Traynor, Bryan J., Singleton, Andrew B.

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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients di Guven, Gamze, Lohmann, Ebba, Bras, Jose, Gibbs, J. Raphael, Gurvit, Hakan, Bilgic, Basar, Hanagasi, Hasmet, Rizzu, Patrizia, Heutink, Peter, Emre, Murat, Erginel-Unaltuna, Nihan, Just, Walter, Hardy, John, Singleton, Andrew, Guerreiro, Rita

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

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Age-modulated association between prefrontal NAA and the BDNF gene di Salehi, Basira, Preuss, Nora, van der Veen, Jan Willem, Shen, Jun, Neumeister, Alexander, Drevets, Wayne C., Hodgkinson, Colin, Goldman, David, Wendland, Jens R., Singleton, Andrew, Gibbs, J Raphael, Cookson, Mark R, Hasler, Gregor

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