Canlyniadau Chwilio - Gibbs, J. Raphael

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

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

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Exome Sequencing in Brown-Vialetto-Van Laere Syndrome gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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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