Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Ahmad Al-Khleifat"'
Autor:
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/8e0ad59b00f44e48822c11311414e619
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Autor:
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Abstract Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observation
Externí odkaz:
https://doaj.org/article/3a2b8e9a76094f53a4b32e441bb751a4
Autor:
Ahmad Al Khleifat, Alfredo Iacoangeli, Joke J. F. A. van Vugt, Harry Bowles, Matthieu Moisse, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Aleksey Shatunov, Johnathan Cooper-Knock, Simon Topp, Ross Byrne, Cinzia Gellera, Victoria López, Ashley R. Jones, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-8 (2022)
Abstract There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants o
Externí odkaz:
https://doaj.org/article/2c1accb04c5e475dbe0325f3e155c28c
Autor:
Renata Kabiljo, Harry Bowles, Heather Marriott, Ashley R. Jones, Clement R. Bouton, Richard J.B. Dobson, John P. Quinn, Ahmad Al Khleifat, Chad M. Swanson, Ammar Al-Chalabi, Alfredo Iacoangeli
Publikováno v:
iScience, Vol 25, Iss 11, Pp 105289- (2022)
Summary: Human endogenous retroviruses (HERVs) integrated into the human genome as a result of ancient exogenous infections and currently comprise ∼8% of our genome. The members of the most recently acquired HERV family, HERV-Ks, still retain the p
Externí odkaz:
https://doaj.org/article/6fd85c92a4d0435a9afd0120daad3959
Autor:
Nicholas J. Ashton, Shorena Janelidze, Ahmad Al Khleifat, Antoine Leuzy, Emma L. van der Ende, Thomas K. Karikari, Andrea L. Benedet, Tharick A. Pascoal, Alberto Lleó, Lucilla Parnetti, Daniela Galimberti, Laura Bonanni, Andrea Pilotto, Alessandro Padovani, Jan Lycke, Lenka Novakova, Markus Axelsson, Latha Velayudhan, Gil D. Rabinovici, Bruce Miller, Carmine Pariante, Naghmeh Nikkheslat, Susan M. Resnick, Madhav Thambisetty, Michael Schöll, Gorka Fernández-Eulate, Francisco J. Gil-Bea, Adolfo López de Munain, Ammar Al-Chalabi, Pedro Rosa-Neto, Andre Strydom, Per Svenningsson, Erik Stomrud, Alexander Santillo, Dag Aarsland, John C. van Swieten, Sebastian Palmqvist, Henrik Zetterberg, Kaj Blennow, Abdul Hye, Oskar Hansson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Cerebrospinal fluid neurofilament light (NfL) is a biomarker for neurodegeneration that can also be assessed in blood. Here the authors show in a validation study the potential for plasma NfL as a biomarker for several neurodegenerative diseases.
Externí odkaz:
https://doaj.org/article/5a53b0a732414b4ca05246e46c25baa3
Autor:
Fawaz Dabbaghie, Divya Kalra, Elbay Aliyev, Wouter De Coster, Kimberley Billingsley, Nicolae Sapoval, Shangzhe Zhang, Gaojianyong Wang, Kimberly Walker, Deepak Choubey, Li Chuin Chong, Alejandro R. Gener, Yilei Fu, Pavel Avdeyev, Ben Busby, Daniel Paiva Agustinho, Sairam Behera, Enrico R. Barrozo, Luis F Paulin, Ahmad Al Khleifat, Susanne P. Pfeifer, Muhammad Sohail Raza, Guangyi Chen, Rebecca Lowdon, Daniela C. Soto, David Molik, Anneri Lötter, Chunhsuan Lo, Suresh Kumar Mendem, Sina Majidian, Damaris Lattimer, Priya Lakra, Bai-Wei Lo, Chia-Sin Liew, Rupesh K. Kesharwani, Maria Jose, Jędrzej Kubica, Sree Rohit Raj Kolora, Wolfram Höps, David Morgan Henke, Michael D. Jochum, Anastasia Illarionova, Fritz J Sedlazeck, Weiyu Zhou, Todd Treangen, Philippe Sanio, Jianzhi Yang, Tiancheng Xu, Ramanandan Prabhakaran, Chi-Lam Poon, Aditi Sammi, Marie Saitou, Hiroko Ohmiya, Rajarshi Mondal, Najeeb Syed, Carolina Peralta, Nasrin Parvin, Timothy Hefferon, Medhat Mahmoud
Publikováno v:
F1000Research, Vol 11 (2022)
In October 2021, 59 scientists from 14 countries and 13 U.S. states collaborated virtually in the Third Annual Baylor College of Medicine & DNANexus Structural Variation hackathon. The goal of the hackathon was to advance research on structural varia
Externí odkaz:
https://doaj.org/article/d8c7d88e226245f696a211630add1947
Autor:
Ann M. Mc Cartney, Medhat Mahmoud, Michael Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat, Fawaz Dabbaghie, Rupesh K Kesharwani, Moritz Smolka, Moez Dawood, Dreycey Albin, Elbay Aliyev, Hakeem Almabrazi, Ahmed Arslan, Advait Balaji, Sairam Behera, Kimberley Billingsley, Daniel L Cameron, Joyjit Daw, Eric T. Dawson, Wouter De Coster, Haowei Du, Christopher Dunn, Rocio Esteban, Angad Jolly, Divya Kalra, Chunxiao Liao, Yunxi Liu, Tsung-Yu Lu, James M Havrilla, Michael M Khayat, Maximillian Marin, Jean Monlong, Stephen Price, Alejandro Rafael Gener, Jingwen Ren, Sagayamary Sagayaradj, Nicolae Sapoval, Claude Sinner, Daniela C. Soto, Arda Soylev, Arun Subramaniyan, Najeeb Syed, Neha Tadimeti, Pamella Tater, Pankaj Vats, Justin Vaughn, Kimberly Walker, Gaojianyong Wang, Qiandong Zeng, Shangzhe Zhang, Tingting Zhao, Bryce Kille, Evan Biederstedt, Mark Chaisson, Adam English, Zev Kronenberg, Todd J. Treangen, Timothy Hefferon, Chen-Shan Chin, Ben Busby, Fritz J Sedlazeck
Publikováno v:
F1000Research, Vol 10 (2021)
In October 2020, 62 scientists from nine nations worked together remotely in the Second Baylor College of Medicine & DNAnexus hackathon, focusing on different related topics on Structural Variation, Pan-genomes, and SARS-CoV-2 related research. The o
Externí odkaz:
https://doaj.org/article/52994138986c4640b0eb0fcc835acd81
Autor:
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
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-7 (2019)
Abstract The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population. In most people, the repeat length is 2, but in people wi
Externí odkaz:
https://doaj.org/article/e04f962044f6412cb6a209fcdb58dead
Autor:
Renata Kabiljo, Heather Marriott, Guy P Hunt, Abigail L Pfaff, Ahmad Al Khleifat, Brett Adey, Ashley Jones, Claire Troakes, John P Quinn, Richard J B Dobson, Sulev Koks, Ammar Al-Chalabi, Alfredo Iacoangeli
BackgroundAmyotrophic lateral sclerosis (ALS) is a fatal heterogeneous neurodegenerative disease that typically leads to death from respiratory failure within two to five years. Despite the identification of several genetic risk factors, the biologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebd6b604ae3aae4598921103c55f4955
https://doi.org/10.1101/2023.05.05.23289551
https://doi.org/10.1101/2023.05.05.23289551
Autor:
Heather Marriott, Renata Kabiljo, Ahmad Al Khleifat, Richard J Dobson, Ammar Al-Chalabi, Alfredo Iacoangeli
Publikováno v:
Bioinformatics. 39
Summary The current widespread adoption of next-generation sequencing (NGS) in all branches of basic research and clinical genetics fields means that users with highly variable informatics skills, computing facilities and application purposes need to