檢索結果 - Gibbs, J. Raphael

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

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

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