Search Results - "Singleton, B"

The genetic architecture of Parkinson's disease by Blauwendraat, Cornelis, Nalls, Mike A, Singleton, Andrew B

“…Parkinson's disease is a complex neurodegenerative disorder for which both rare and common genetic variants contribute to disease risk, onset, and progression…”
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Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance by Hernandez, Dena G., Reed, Xylena, Singleton, Andrew B.

“…Parkinson's disease is a common, progressive neurodegenerative disorder, affecting 3% of those older than 75 years of age. Clinically, Parkinson's disease (PD)…”
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Genetics of Parkinson's disease: An introspection of its journey towards precision medicine by Bandres-Ciga, Sara, Diez-Fairen, Monica, Kim, Jonggeol Jeff, Singleton, Andrew B.

“…A substantial proportion of risk for Parkinson's disease (PD) is driven by genetics. Progress in understanding the genetic basis of PD has been significant. So…”
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The genetics and neuropathology of Parkinson’s disease by Houlden, Henry, Singleton, Andrew B.

“…There has been tremendous progress toward understanding the genetic basis of Parkinson’s disease and related movement disorders. We summarize the genetic,…”
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Genetic risk factors in Parkinson’s disease by Billingsley, K. J., Bandres-Ciga, S., Saez-Atienzar, S., Singleton, A. B.

“…Over the last two decades, we have witnessed a revolution in the field of Parkinson’s disease (PD) genetics. Great advances have been made in identifying many…”
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The genetics of Parkinson's disease: Progress and therapeutic implications by Singleton, Andrew B., Farrer, Matthew J., Bonifati, Vincenzo

“…The past 15 years has witnessed tremendous progress in our understanding of the genetic basis for Parkinson's disease (PD). Notably, whereas most mutations,…”
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A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci by Chang, Diana, Nalls, Mike A, Hallgrímsdóttir, Ingileif B, Hunkapiller, Julie, van der Brug, Marcel, Cai, Fang, Kerchner, Geoffrey A, Ayalon, Gai, Bingol, Baris, Sheng, Morgan, Hinds, David, Behrens, Timothy W, Singleton, Andrew B, Bhangale, Tushar R, Graham, Robert R

“…Robert Graham and colleagues carried out a GWAS meta-analysis for Parkinson's disease (PD) and report 17 new risk loci. Their analyses support a key role for…”
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Reply to: ‘Letter to the Editor on “Sex Differences in Parkinson's Disease Phenotype and Caregiving Disparities”’ by Antar, Tarek, Iwaki, Hirotaka, Singleton, Andrew

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Genetic variability in the regulation of gene expression in ten regions of the human brain by Ramasamy, Adaikalavan, Trabzuni, Daniah, Guelfi, Sebastian, Varghese, Vibin, Smith, Colin, Walker, Robert, De, Tisham, Coin, Lachlan, de Silva, Rohan, Cookson, Mark R, Singleton, Andrew B, Hardy, John, Ryten, Mina, Weale, Michael E

“…Expression quantitative trait loci (eQTLs) are genomic regions that regulate gene expression. Here the authors provide a publicly available data set of…”
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A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states by Dräger, Nina M., Sattler, Sydney M., Huang, Cindy Tzu-Ling, Teter, Olivia M., Leng, Kun, Hashemi, Sayed Hadi, Hong, Jason, Aviles, Giovanni, Clelland, Claire D., Zhan, Lihong, Udeochu, Joe C., Kodama, Lay, Singleton, Andrew B., Nalls, Mike A., Ichida, Justin, Ward, Michael E., Faghri, Faraz, Gan, Li, Kampmann, Martin

“…Microglia are emerging as key drivers of neurological diseases. However, we lack a systematic understanding of the underlying mechanisms. Here, we present a…”
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Menopause accelerates biological aging by Levine, Morgan E., Lu, Ake T., Chen, Brian H., Hernandez, Dena G., Singleton, Andrew B., Ferrucci, Luigi, Bandinelli, Stefania, Salfati, Elias, Manson, JoAnn E., Quach, Austin, Kusters, Cynthia D. J., Kuh, Diana, Wong, Andrew, Teschendorff, Andrew E., Widschwendter, Martin, Ritz, Beate R., Absher, Devin, Assimes, Themistocles L., Horvath, Steve

“…Although epigenetic processes have been linked to aging and disease in other systems, it is not yet known whether they relate to reproductive aging. Recently,…”
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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain by Gibbs, J Raphael, van der Brug, Marcel P, Hernandez, Dena G, Traynor, Bryan J, Nalls, Michael A, Lai, Shiao-Lin, Arepalli, Sampath, Dillman, Allissa, Rafferty, Ian P, Troncoso, Juan, Johnson, Robert, Zielke, H Ronald, Ferrucci, Luigi, Longo, Dan L, Cookson, Mark R, Singleton, Andrew B

“…A fundamental challenge in the post-genome era is to understand and annotate the consequences of genetic variation, particularly within the context of human…”
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Genome‐Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease by Tan, Manuela M.X., Lawton, Michael A., Jabbari, Edwin, Reynolds, Regina H., Iwaki, Hirotaka, Blauwendraat, Cornelis, Kanavou, Sofia, Pollard, Miriam I., Hubbard, Leon, Malek, Naveed, Grosset, Katherine A., Marrinan, Sarah L., Bajaj, Nin, Barker, Roger A., Burn, David J., Bresner, Catherine, Foltynie, Thomas, Wood, Nicholas W., Williams‐Gray, Caroline H., Hardy, John, Nalls, Michael A., Singleton, Andrew B., Williams, Nigel M., Ben‐Shlomo, Yoav, Hu, Michele T.M., Grosset, Donald G., Shoai, Maryam, Morris, Huw R.

“…ABSTRACT Background There are currently no treatments that stop or slow the progression of Parkinson's disease (PD). Case–control genome‐wide association…”
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Genetic and phenotypic characterization of complex hereditary spastic paraplegia by Kara, Eleanna, Tucci, Arianna, Manzoni, Claudia, Lynch, David S, Elpidorou, Marilena, Bettencourt, Conceicao, Chelban, Viorica, Manole, Andreea, Hamed, Sherifa A, Haridy, Nourelhoda A, Federoff, Monica, Preza, Elisavet, Hughes, Deborah, Pittman, Alan, Jaunmuktane, Zane, Brandner, Sebastian, Xiromerisiou, Georgia, Wiethoff, Sarah, Schottlaender, Lucia, Proukakis, Christos, Morris, Huw, Warner, Tom, Bhatia, Kailash P, Korlipara, L V Prasad, Singleton, Andrew B, Hardy, John, Wood, Nicholas W, Lewis, Patrick A, Houlden, Henry

“…The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower…”
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Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson's Disease Progression by Mollenhauer, Brit, Dakna, Mohammed, Kruse, Niels, Galasko, Douglas, Foroud, Tatiana, Zetterberg, Henrik, Schade, Sebastian, Gera, Roland G., Wang, Wenting, Gao, Feng, Frasier, Mark, Chahine, Lana M., Coffey, Christopher S., Singleton, Andrew B., Simuni, Tanya, Weintraub, Daniel, Seibyl, John, Toga, Arthur W., Tanner, Caroline M., Kieburtz, Karl, Marek, Kenneth, Siderowf, Andrew, Cedarbaum, Jesse M., Hutten, Samantha J., Trenkwalder, Claudia, Graham, Danielle

“…Background The objective of this study was to assess neurofilament light chain as a Parkinson's disease biomarker. Methods We quantified neurofilament light…”
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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans by Wang, Yubin, Hersheson, Joshua, Lopez, Dulce, Hammer, Monia, Liu, Yan, Lee, Ka-Hung, Pinto, Vanessa, Seinfeld, Jeff, Wiethoff, Sarah, Sun, Jiandong, Amouri, Rim, Hentati, Faycal, Baudry, Neema, Tran, Jennifer, Singleton, Andrew B., Coutelier, Marie, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra, Bi, Xiaoning, Houlden, Henry, Baudry, Michel

“…A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. We now report that homozygous or heterozygous CAPN1-null…”
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Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk by Lubbe, Steven J, Bustos, Bernabe I, Hu, Jing, Krainc, Dimitri, Joseph, Theresita, Hehir, Jason, Tan, Manuela, Zhang, Weijia, Escott-Price, Valentina, Williams, Nigel M, Blauwendraat, Cornelis, Singleton, Andrew B, Morris, Huw R

“…Abstract Biallelic Parkin (PRKN) mutations cause autosomal recessive Parkinson’s disease (PD); however, the role of monoallelic PRKN mutations as a risk factor…”
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Association of a common genetic variant with Parkinson's disease is mediated by microglia by Langston, Rebekah G, Beilina, Alexandra, Reed, Xylena, Kaganovich, Alice, Singleton, Andrew B, Blauwendraat, Cornelis, Gibbs, J Raphael, Cookson, Mark R

“…Studies of multiple neurodegenerative disorders have identified many genetic variants that are associated with risk of disease throughout a lifetime. For…”
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A large study reveals no association between APOE and Parkinson's disease by Federoff, Monica, Jimenez-Rolando, Belen, Nalls, Michael A, Singleton, Andrew B

“…Abstract Background Research focusing on the role of APOE in Parkinson's disease (PD) has been largely inconclusive, creating a broad discrepancy in…”
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Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls by 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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