The genetic architecture of ALS

by Aleksey Shatunov, Ammar Al-Chalabi
Published 2021-01-01

A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex

by Ashley R. Jones, Alfredo Iacoangeli, Brett N. Adey, Harry Bowles, Aleksey Shatunov, Claire Troakes, Jeremy A. Garson, Adele L. McCormick, Ammar Al-Chalabi
Published 2021-07-01

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS.

by Abigail L Savage, Thomas P Wilm, Kejhal Khursheed, Aleksey Shatunov, Karen E Morrison, Pamela J Shaw, Christopher E Shaw, Bradley Smith, Gerome Breen, Ammar Al-Chalabi, Diana Moss, Vivien J Bubb, John P Quinn
Published 2014-01-01

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

by Alfredo Iacoangeli, Ahmad Al Khleifat, Ashley R. Jones, William Sproviero, Aleksey Shatunov, Sarah Opie-Martin, Alzheimer’s Disease Neuroimaging Initiative, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Isabella Fogh, Richard J. Dobson, Stephen J. Newhouse, Ammar Al-Chalabi
Published 2019-07-01

Genetic ablation of phospholipase C delta 1 increases survival in SOD1G93A mice

by Kim A. Staats, Lawrence Van Helleputte, Ashley R. Jones, André Bento-Abreu, Annelies Van Hoecke, Aleksey Shatunov, Claire L. Simpson, Robin Lemmens, Tom Jaspers, Kiyoko Fukami, Yoshikazu Nakamura, Robert H. Brown, Jr., Philip Van Damme, Adrian Liston, Wim Robberecht, Ammar Al-Chalabi, Ludo Van Den Bosch
Published 2013-12-01

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

by Jason A. Chen, Zhongbo Chen, Hyejung Won, Alden Y. Huang, Jennifer K. Lowe, Kevin Wojta, Jennifer S. Yokoyama, Gilbert Bensimon, P. Nigel Leigh, Christine Payan, Aleksey Shatunov, Ashley R. Jones, Cathryn M. Lewis, Panagiotis Deloukas, Philippe Amouyel, Christophe Tzourio, Jean-Francois Dartigues, Albert Ludolph, Adam L. Boxer, Jeff M. Bronstein, Ammar Al-Chalabi, Daniel H. Geschwind, Giovanni Coppola
Published 2018-08-01

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

by Frank P Diekstra, Christiaan G J Saris, Wouter van Rheenen, Lude Franke, Ritsert C Jansen, Michael A van Es, Paul W J van Vught, Hylke M Blauw, Ewout J N Groen, Steve Horvath, Karol Estrada, Fernando Rivadeneira, Albert Hofman, Andre G Uitterlinden, Wim Robberecht, Peter M Andersen, Judith Melki, Vincent Meininger, Orla Hardiman, John E Landers, Robert H Brown, Aleksey Shatunov, Christopher E Shaw, P Nigel Leigh, Ammar Al-Chalabi, Roel A Ophoff, Leonard H van den Berg, Jan H Veldink
Published 2012-01-01

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

by Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Project MinE ALS Sequencing Consortium, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby, Pamela J. Shaw, Ahmad Al Kheifat, Ammar Al-Chalabi, Nazli Basak, Ian Blair, Annelot Dekker, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Kevin Kenna, John Landers, Russel McLaughlin, Jonathan Mill, Bas Middelkoop, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Sara Pulit, Aleksey Shatunov, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristelvan Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Maarten Kooyman, Jonathan Glass, Wim Robberecht, Marc Gotkine, Vivian Drory, Matthew Kiernan, Miguel Mitne Neto, Mayana Ztaz, Philippe Couratier, Philippe Corcia, Vincenzo Silani, Adriano Chio, Mamede de Carvalho, Susana Pinto, Alberto Garcia Redondo, Peter Andersen, Markus Weber, Nicola Ticozzi
Published 2017-11-01

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

by Bram P Prins, Ali Abbasi, Anson Wong, Ahmad Vaez, Ilja Nolte, Nora Franceschini, Philip E Stuart, Javier Guterriez Achury, Vanisha Mistry, Jonathan P Bradfield, Ana M Valdes, Jose Bras, Aleksey Shatunov, PAGE Consortium, International Stroke Genetics Consortium, Systemic Sclerosis consortium, Treat OA consortium, DIAGRAM Consortium, CARDIoGRAMplusC4D Consortium, ALS consortium, International Parkinson’s Disease Genomics Consortium, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, CKDGen consortium, GERAD1 Consortium, International Consortium for Blood Pressure, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Inflammation Working Group of the CHARGE Consortium, Chen Lu, Buhm Han, Soumya Raychaudhuri, Steve Bevan, Maureen D Mayes, Lam C Tsoi, Evangelos Evangelou, Rajan P Nair, Struan F A Grant, Constantin Polychronakos, Timothy R D Radstake, David A van Heel, Melanie L Dunstan, Nicholas W Wood, Ammar Al-Chalabi, Abbas Dehghan, Hakon Hakonarson, Hugh S Markus, James T Elder, Jo Knight, Dan E Arking, Timothy D Spector, Bobby P C Koeleman, Cornelia M van Duijn, Javier Martin, Andrew P Morris, Rinse K Weersma, Cisca Wijmenga, Patricia B Munroe, John R B Perry, Jennie G Pouget, Yalda Jamshidi, Harold Snieder, Behrooz Z Alizadeh
Published 2016-06-01

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

by Marta F. Nabais, Simon M. Laws, Tian Lin, Costanza L. Vallerga, Nicola J. Armstrong, Ian P. Blair, John B. Kwok, Karen A. Mather, George D. Mellick, Perminder S. Sachdev, Leanne Wallace, Anjali K. Henders, Ramona A. J. Zwamborn, Paul J. Hop, Katie Lunnon, Ehsan Pishva, Janou A. Y. Roubroeks, Hilkka Soininen, Magda Tsolaki, Patrizia Mecocci, Simon Lovestone, Iwona Kłoszewska, Bruno Vellas, the Australian Imaging Biomarkers and Lifestyle study, the Alzheimer’s Disease Neuroimaging Initiative, Sarah Furlong, Fleur C. Garton, Robert D. Henderson, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Shyuan T. Ngo, Garth Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Tim J. Anderson, Steven R. Bentley, John Dalrymple-Alford, Javed Fowder, Jacob Gratten, Glenda Halliday, Ian B. Hickie, Martin Kennedy, Simon J. G. Lewis, Grant W. Montgomery, John Pearson, Toni L. Pitcher, Peter Silburn, Futao Zhang, Peter M. Visscher, Jian Yang, Anna J. Stevenson, Robert F. Hillary, Riccardo E. Marioni, Sarah E. Harris, Ian J. Deary, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Wouter van Rheenen, Leonard H. van den Berg, Pamela J. Shaw, Cristopher E. Shaw, Karen E. Morrison, Ammar Al-Chalabi, Jan H. Veldink, Eilis Hannon, Jonathan Mill, Naomi R. Wray, Allan F. McRae
Published 2021-03-01