Hasil Pencarian - Andrew B Singleton

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  1. 1
    Variant biomarker discovery using mass spectrometry-based proteogenomics

    Variant biomarker discovery using mass spectrometry-based proteogenomics oleh Luke Reilly, Sahba Seddighi, Andrew B. Singleton, Andrew B. Singleton, Mark R. Cookson, Michael E. Ward, Yue A. Qi

    Diterbitkan 2023-04-01
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  2. 2
    A large study reveals no association between APOE and Parkinson's disease

    A large study reveals no association between APOE and Parkinson's disease oleh Monica Federoff, Belen Jimenez-Rolando, Michael A. Nalls, Andrew B. Singleton

    Diterbitkan 2012-05-01
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  3. 3
    Genetics of Parkinson's disease: An introspection of its journey towards precision medicine

    Genetics of Parkinson's disease: An introspection of its journey towards precision medicine oleh Sara Bandres-Ciga, Monica Diez-Fairen, Jonggeol Jeff Kim, Andrew B. Singleton

    Diterbitkan 2020-04-01
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  4. 4
    Genome wide assessment of young onset Parkinson's disease from Finland.

    Genome wide assessment of young onset Parkinson's disease from Finland. oleh Dena G Hernandez, Michael A Nalls, Pauli Ylikotila, Margaux Keller, John A Hardy, Kari Majamaa, Andrew B Singleton

    Diterbitkan 2012-01-01
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  5. 5
    DOPA-decarboxylase is elevated in CSF, but not plasma, in prodromal and de novo Parkinson’s disease

    DOPA-decarboxylase is elevated in CSF, but not plasma, in prodromal and de novo Parkinson’s disease oleh Ellen Appleton, Shervin Khosousi, Michael Ta, Michael Nalls, Andrew B. Singleton, Andrea Sturchio, Ioanna Markaki, Wojciech Paslawski, Hirotaka Iwaki, Per Svenningsson

    Diterbitkan 2024-06-01
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  6. 6
    A Novel DYT-5 Mutation with Phenotypic Variability Within a Colombian Family

    A Novel DYT-5 Mutation with Phenotypic Variability Within a Colombian Family oleh Oscar Bernal-Pacheco, Genko Oyama, Angela Briton, Andrew B. Singleton, Hubert H. Fernandez, Ramon L. Rodriguez, Irene A. Malaty, Michael S. Okun

    Diterbitkan 2013-10-01
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  7. 7
    A population scale analysis of rare SNCA variation in the UK Biobank

    A population scale analysis of rare SNCA variation in the UK Biobank oleh Cornelis Blauwendraat, Mary B. Makarious, Hampton L. Leonard, Sara Bandres-Ciga, Hirotaka Iwaki, Mike A. Nalls, Alastair J. Noyce, Andrew B. Singleton

    Diterbitkan 2021-01-01
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  8. 8
    Analysis of rare Parkinson’s disease variants in millions of people

    Analysis of rare Parkinson’s disease variants in millions of people oleh Vanessa Pitz, Mary B. Makarious, Sara Bandres-Ciga, Hirotaka Iwaki, 23andMe Research Team, Andrew B. Singleton, Mike Nalls, Karl Heilbron, Cornelis Blauwendraat

    Diterbitkan 2024-01-01
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  9. 9
    Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis

    Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis oleh Michael L. Garcia, Andrew B. Singleton, Dena Hernandez, Christopher M. Ward, Crystal Evey, Peter A. Sapp, John Hardy, Robert H. Brown, Jr., Don W. Cleveland

    Diterbitkan 2006-01-01
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  10. 10
    Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

    Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia oleh Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou

    Diterbitkan 2017-11-01
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  11. 11
    Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

    Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. oleh Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton

    Diterbitkan 2009-03-01
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  12. 12
    Plasma 24-metabolite panel predicts preclinical transition to clinical stages of Alzheimer’s disease

    Plasma 24-metabolite panel predicts preclinical transition to clinical stages of Alzheimer’s disease oleh Massimo S Fiandaca, Xioagang eZhong, Amrita K Cheema, Michael H. Orquiza, Swathi eChidambaram, Ming T Tan, Carole Roan Gresenz, Kevin T FitzGerald, Michael A Nalls, Andrew B Singleton, Mark eMapstone, Howard J Federoff

    Diterbitkan 2015-11-01
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  13. 13
    A fully automated FAIMS-DIA mass spectrometry-based proteomic pipeline

    A fully automated FAIMS-DIA mass spectrometry-based proteomic pipeline oleh Luke Reilly, Erika Lara, Daniel Ramos, Ziyi Li, Caroline B. Pantazis, Julia Stadler, Marianita Santiana, Jessica Roberts, Faraz Faghri, Ying Hao, Mike A. Nalls, Priyanka Narayan, Yansheng Liu, Andrew B. Singleton, Mark R. Cookson, Michael E. Ward, Yue A. Qi

    Diterbitkan 2023-10-01
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  14. 14
    Application of Aligned-UMAP to longitudinal biomedical studies

    Application of Aligned-UMAP to longitudinal biomedical studies oleh Anant Dadu, Vipul K. Satone, Rachneet Kaur, Mathew J. Koretsky, Hirotaka Iwaki, Yue A. Qi, Daniel M. Ramos, Brian Avants, Jacob Hesterman, Roger Gunn, Mark R. Cookson, Michael E. Ward, Andrew B. Singleton, Roy H. Campbell, Mike A. Nalls, Faraz Faghri

    Diterbitkan 2023-06-01
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  15. 15
    Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

    Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based i... oleh Andrew R Wood, John R B Perry, Toshiko Tanaka, Dena G Hernandez, Hou-Feng Zheng, David Melzer, J Raphael Gibbs, Michael A Nalls, Michael N Weedon, Tim D Spector, J Brent Richards, Stefania Bandinelli, Luigi Ferrucci, Andrew B Singleton, Timothy M Frayling

    Diterbitkan 2013-01-01
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  16. 16
    Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

    Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies oleh Joshua T. Geiger, Jinhui Ding, Barbara Crain, Olga Pletnikova, Christopher Letson, Ted M. Dawson, Liana S. Rosenthal, Alexander Pantelyat, J. Raphael Gibbs, Marilyn S. Albert, Dena G. Hernandez, Argye E. Hillis, David J. Stone, Andrew B. Singleton, John A. Hardy, Juan C. Troncoso, Sonja W. Scholz

    Diterbitkan 2016-10-01
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  17. 17
    Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.

    Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. oleh Javier Simón-Sánchez, Laura L Kilarski, Michael A Nalls, Maria Martinez, Claudia Schulte, Peter Holmans, International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium, Thomas Gasser, John Hardy, Andrew B Singleton, Nicholas W Wood, Alexis Brice, Peter Heutink, Nigel Williams, Huw R Morris

    Diterbitkan 2012-01-01
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  18. 18
    Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.

    Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. oleh J Raphael Gibbs, Marcel P van der Brug, Dena G Hernandez, Bryan J Traynor, Michael A Nalls, Shiao-Lin Lai, Sampath Arepalli, Allissa Dillman, Ian P Rafferty, Juan Troncoso, Robert Johnson, H Ronald Zielke, Luigi Ferrucci, Dan L Longo, Mark R Cookson, Andrew B Singleton

    Diterbitkan 2010-05-01
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  19. 19
    Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease

    Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease oleh Pilar Alvarez Jerez, Jose Luis Alcantud, Lucia de los Reyes-Ramírez, Anni Moore, Clara Ruz, Francisco Vives Montero, Noela Rodriguez-Losada, Prabhjyot Saini, Ziv Gan-Or, Chelsea X. Alvarado, Mary B. Makarious, Kimberley J. Billingsley, Cornelis Blauwendraat, Alastair J. Noyce, Andrew B. Singleton, Raquel Duran, Sara Bandres-Ciga

    Diterbitkan 2023-04-01
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  20. 20
    Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

    Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans oleh Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudry

    Diterbitkan 2016-06-01
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