検索結果 - Shatunov, Aleksey

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD) 著者: Abel, Olubunmi, Shatunov, Aleksey, Jones, Ashley R, Andersen, Peter M, Powell, John F, Al-Chalabi, Ammar

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A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex 著者: Jones, Ashley R., Iacoangeli, Alfredo, Adey, Brett N., Bowles, Harry, Shatunov, Aleksey, Troakes, Claire, Garson, Jeremy A., McCormick, Adele L., Al-Chalabi, Ammar

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The lysosomal disease caused by mutant VPS33A 著者: Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M

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ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients 著者: Iacoangeli, Alfredo, Al Khleifat, Ahmad, Sproviero, William, Shatunov, Aleksey, Jones, Ashley R., Opie-Martin, Sarah, Naselli, Ersilia, Topp, Simon D., Fogh, Isabella, Hodges, Angela, Dobson, Richard J., Newhouse, Stephen J., Al-Chalabi, Ammar

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An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS 著者: Savage, Abigail L., Wilm, Thomas P., Khursheed, Kejhal, Shatunov, Aleksey, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Smith, Bradley, Breen, Gerome, Al-Chalabi, Ammar, Moss, Diana, Bubb, Vivien J., Quinn, John P.

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C9orf72 intermediate expansions of 24–30 repeats are associated with ALS 著者: Iacoangeli, Alfredo, Al Khleifat, Ahmad, Jones, Ashley R., Sproviero, William, Shatunov, Aleksey, Opie-Martin, Sarah, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Fogh, Isabella, Dobson, Richard J., Newhouse, Stephen J., Al-Chalabi, Ammar

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Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias 著者: Mehta, Puja R, Jones, Ashley R, Opie-Martin, Sarah, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Smith, Bradley N, Topp, Simon, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Morgan, Sarah, Pittman, Alan, Al-Chalabi, Ammar

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Telomere length is greater in ALS than in controls: a whole genome sequencing study 著者: Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Fang, Ton, Sproviero, William, Jones, Ashley R., Opie-Martin, Sarah, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Powell, John F., Dobson, Richard, Newhouse, Steven J., Al-Chalabi, Ammar

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A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK 著者: Morgan, Sarah, Shatunov, Aleksey, Sproviero, William, Jones, Ashley R., Shoai, Maryam, Hughes, Deborah, Al Khleifat, Ahmad, Malaspina, Andrea, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Sidle, Katie, Orrell, Richard W., Fratta, Pietro, Hardy, John, Pittman, Alan, Al-Chalabi, Ammar

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Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study 著者: Byrne, Susan, Elamin, Marwa, Bede, Peter, Shatunov, Aleksey, Walsh, Cathal, Corr, Bernie, Heverin, Mark, Jordan, Norah, Kenna, Kevin, Lynch, Catherine, McLaughlin, Russell L, Iyer, Parameswaran Mahadeva, O'Brien, Caoimhe, Phukan, Julie, Wynne, Brona, Bokde, Arun L, Bradley, Daniel G, Pender, Niall, Al-Chalabi, Ammar, Hardiman, Orla

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Homozygosity analysis in amyotrophic lateral sclerosis 著者: Mok, Kin, Laaksovirta, Hannu, Tienari, Pentti J, Peuralinna, Terhi, Myllykangas, Liisa, Chiò, Adriano, Traynor, Bryan J, Nalls, Michael A, Gurunlian, Nicole, Shatunov, Aleksey, Restagno, Gabriella, Mora, Gabriele, Nigel Leigh, P, Shaw, Chris E, Morrison, Karen E, Shaw, Pamela J, Al-Chalabi, Ammar, Hardy, John, Orrell, Richard W

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Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis 著者: Gaastra, Benjamin, Shatunov, Aleksey, Pulit, Sara, Jones, Ashley R., Sproviero, William, Gillett, Alexandra, Chen, Zhongbo, Kirby, Janine, Fogh, Isabella, Powell, John F., Leigh, P. Nigel, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., van den Berg, Leonard H., Veldink, Jan H., Lewis, Cathryn M., Al-Chalabi, Ammar

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Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat 著者: Jones, Ashley R., Woollacott, Ione, Shatunov, Aleksey, Cooper-Knock, Johnathan, Buchman, Vladimir, Sproviero, William, Smith, Bradley, Scott, Kirsten M., Balendra, Rubika, Abel, Olubunmi, McGuffin, Peter, Ellis, Catherine M., Shaw, Pamela J., Morrison, Karen E., Farmer, Anne, Lewis, Cathryn M., Leigh, P. Nigel, Shaw, Christopher E., Powell, John F., Al-Chalabi, Ammar

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Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases 著者: Chen, Jason A., Chen, Zhongbo, Won, Hyejung, Huang, Alden Y., Lowe, Jennifer K., Wojta, Kevin, Yokoyama, Jennifer S., Bensimon, Gilbert, Leigh, P. Nigel, Payan, Christine, Shatunov, Aleksey, Jones, Ashley R., Lewis, Cathryn M., Deloukas, Panagiotis, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Francois, Ludolph, Albert, Boxer, Adam L., Bronstein, Jeff M., Al-Chalabi, Ammar, Geschwind, Daniel H., Coppola, Giovanni

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Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials 著者: van Eijk, Ruben P.A., Jones, Ashley R., Sproviero, William, Shatunov, Aleksey, Shaw, Pamela J., Leigh, P. Nigel, Young, Carolyn A., Shaw, Christopher E., Mora, Gabriele, Mandrioli, Jessica, Borghero, Giuseppe, Volanti, Paolo, Diekstra, Frank P., van Rheenen, Wouter, Verstraete, Esther, Eijkemans, Marinus J.C., Veldink, Jan H., Chio, Adriano, Al-Chalabi, Ammar, van den Berg, Leonard H., van Es, Michael A.

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Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies 著者: Hop, Paul J, Zwamborn, Ramona A J, Hannon, Eilis J, Dekker, Annelot M, van Eijk, Kristel R, Walker, Emma M, Iacoangeli, Alfredo, Jones, Ashley R, Shatunov, Aleksey, Khleifat, Ahmad Al, Opie-Martin, Sarah, Shaw, Christopher E, Morrison, Karen E, Shaw, Pamela J, McLaughlin, Russell L, Hardiman, Orla, Al-Chalabi, Ammar, Van Den Berg, Leonard H, Mill, Jonathan, Veldink, Jan H

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SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed 著者: Iacoangeli, Alfredo, Fogh, Isabella, Selvackadunco, Sashika, Topp, Simon D, Shatunov, Aleksey, van Rheenen, Wouter, Al-Khleifat, Ahmad, Opie-Martin, Sarah, Ratti, Antonia, Calvo, Andrea, Van Damme, Philip, Robberecht, Wim, Chio, Adriano, Dobson, Richard J, Hardiman, Orla, Shaw, Christopher E, van den Berg, Leonard H, Andersen, Peter M, Smith, Bradley N, Silani, Vincenzo, Veldink, Jan H, Breen, Gerome, Troakes, Claire, Al-Chalabi, Ammar, Jones, Ashley R

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The chromosome 9 ALS and FTD locus is probably derived from a single founder 著者: Mok, Kin, Traynor, Bryan J., Schymick, Jennifer, Tienari, Pentti J., Laaksovirta, Hannu, Peuralinna, Terhi, Myllykangas, Liisa, Chiò, Adriano, Shatunov, Aleksey, Boeve, Bradley F., Boxer, Adam L., DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Waite, Adrian, Williams, Nigel, Morris, Huw R., Simón-Sánchez, Javier, van Swieten, John C., Heutink, Peter, Restagno, Gabriella, Mora, Gabriele, Morrison, Karen E., Shaw, Pamela J., Rollinson, Pamela Sara, Al-Chalabi, Ammar, Rademakers, Rosa, Pickering-Brown, Stuart, Orrell, Richard W., Nalls, Michael A., Hardy, John

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Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS 著者: Diekstra, Frank P., Saris, Christiaan G. J., van Rheenen, Wouter, Franke, Lude, Jansen, Ritsert C., van Es, Michael A., van Vught, Paul W. J., Blauw, Hylke M., Groen, Ewout J. N., Horvath, Steve, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Robberecht, Wim, Andersen, Peter M., Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E., Brown, Robert H., Shatunov, Aleksey, Shaw, Christopher E., Leigh, P. Nigel, Al-Chalabi, Ammar, Ophoff, Roel A., van den Berg, Leonard H., Veldink, Jan H.

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No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis 著者: Goris, An, van Setten, Jessica, Diekstra, Frank, Ripke, Stephan, Patsopoulos, Nikolaos A., Sawcer, Stephen J., van Es, Michael, Andersen, Peter M., Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E., Brown, Robert H., Shatunov, Aleksey, Leigh, Nigel, Al-Chalabi, Ammar, Shaw, Christopher E., Traynor, Bryan J., Chiò, Adriano, Restagno, Gabriella, Mora, Gabriele, Ophoff, Roel A., Oksenberg, Jorge R., Van Damme, Philip, Compston, Alastair, Robberecht, Wim, Dubois, Bénédicte, van den Berg, Leonard H., De Jager, Philip L., Veldink, Jan H., de Bakker, Paul I.W.

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