Zobrazeno 1 - 10
of 442
pro vyhledávání: '"Ammar Al-Chalabi"'
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Autor:
Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Abstract Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening pa
Externí odkaz:
https://doaj.org/article/3bcb8a1d9b3c4724a5b304747dd4abc5
Autor:
Oliver Pain, Ashley Jones, Ahmad Al Khleifat, Devika Agarwal, Dzmitry Hramyka, Hajer Karoui, Jędrzej Kubica, David J. Llewellyn, Janice M. Ranson, Zhi Yao, Alfredo Iacoangeli, Ammar Al-Chalabi
Publikováno v:
Heliyon, Vol 10, Iss 15, Pp e35342- (2024)
Introduction: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. This study integrates common genetic association results from the latest ALS genome-wide association study (GWAS) summary statistics with functional genomic annot
Externí odkaz:
https://doaj.org/article/64bff13ca9804855b263f30beafbdc37
Autor:
Heather Marriott, Renata Kabiljo, Guy P Hunt, Ahmad Al Khleifat, Ashley Jones, Claire Troakes, Project MinE ALS Sequencing Consortium, TargetALS Sequencing Consortium, Abigail L Pfaff, John P Quinn, Sulev Koks, Richard J Dobson, Patrick Schwab, Ammar Al-Chalabi, Alfredo Iacoangeli
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-20 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) displays considerable clinical and genetic heterogeneity. Machine learning approaches have previously been utilised for patient stratification in ALS as they can disentangle complex disease landscapes. How
Externí odkaz:
https://doaj.org/article/0039ccac3a864796aca41190b1b2c47d
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
Autor:
Rebecca L. Gould, Charlotte Rawlinson, Ben Thompson, Kirsty Weeks, Rebecca Gossage-Worrall, Hannah Cantrill, Marc A. Serfaty, Christopher D. Graham, Lance M. McCracken, David White, Robert J. Howard, Matt Bursnall, Mike Bradburn, Ammar Al-Chalabi, Richard Orrell, Suresh K. Chhetri, Rupert Noad, Aleksandar Radunovic, Tim Williams, Carolyn A. Young, David Dick, Vanessa Lawrence, Laura H. Goldstein, Tracey Young, John Ealing, Hamish McLeod, Nicola Williams, Helen Weatherly, Richard Cave, Theresa Chiwera, Francesco Pagnini, Cindy Cooper, Pamela J. Shaw, Christopher J. McDermott, and the COMMEND Collaboration Group
Publikováno v:
Pilot and Feasibility Studies, Vol 9, Iss 1, Pp 1-15 (2023)
Abstract Background Motor neuron disease (MND) is a fatal, progressive neurodegenerative disease that causes progressive weakening and wasting of limb, bulbar, thoracic and abdominal muscles. Clear evidence-based guidance on how psychological distres
Externí odkaz:
https://doaj.org/article/1f16105dce8c44dfaed6f28d5a4b1ea8
Autor:
Oliver J. Ziff, Jacob Neeves, Jamie Mitchell, Giulia Tyzack, Carlos Martinez-Ruiz, Raphaelle Luisier, Anob M. Chakrabarti, Nicholas McGranahan, Kevin Litchfield, Simon J. Boulton, Ammar Al-Chalabi, Gavin Kelly, Jack Humphrey, Rickie Patani
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Amyotrophic Lateral Sclerosis (ALS) causes motor neuron degeneration, with 97% of cases exhibiting TDP-43 proteinopathy. Elucidating pathomechanisms has been hampered by disease heterogeneity and difficulties accessing motor neurons. Human i
Externí odkaz:
https://doaj.org/article/dd8f26a91a1646ca8fb84eb2c02762b3
Autor:
Thomas Krannich, Marina Herrera Sarrias, Hiba Ben Aribi, Moustafa Shokrof, Alfredo Iacoangeli, Ammar Al-Chalabi, Fritz J. Sedlazeck, Ben Busby, Ahmad Al Khleifat
Publikováno v:
Frontiers in Bioinformatics, Vol 3 (2023)
Motivation: For a number of neurological diseases, such as Alzheimer’s disease, amyotrophic lateral sclerosis, and many others, certain genes are known to be involved in the disease mechanism. A common question is whether a structural variant in an
Externí odkaz:
https://doaj.org/article/df94bfd0f4fe47aca472912885b0457f
Autor:
Munishikha Kalia, Mattia Miotto, Deborah Ness, Sarah Opie-Martin, Thomas P. Spargo, Lorenzo Di Rienzo, Tommaso Biagini, Francesco Petrizzelli, Ahmad Al Khleifat, Renata Kabiljo, Tommaso Mazza, Giancarlo Ruocco, Edoardo Milanetti, Richard JB Dobson, Ammar Al-Chalabi, Alfredo Iacoangeli
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 5296-5308 (2023)
Mutations in the superoxide dismutase 1 (SOD1) gene are the second most common known cause of ALS. SOD1 variants express high phenotypic variability and over 200 have been reported in people with ALS. It was previously proposed that variants can be b
Externí odkaz:
https://doaj.org/article/cae53214ac3644a39888b7450cb58e12
Autor:
Thomas P. Spargo, Sarah Opie-Martin, Harry Bowles, Cathryn M. Lewis, Alfredo Iacoangeli, Ammar Al-Chalabi
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Background Genetic penetrance is the probability of a phenotype when harbouring a particular pathogenic variant. Accurate penetrance estimates are important across biomedical fields including genetic counselling, disease research, and gene t
Externí odkaz:
https://doaj.org/article/6c9a99f54dbc4a65b359a80b68346677
Autor:
Sean W. Willemse, Kit C. B. Roes, Philip Van Damme, Orla Hardiman, Caroline Ingre, Monica Povedano, Naomi R. Wray, Marleen Gijzen, Mirjam S. de Pagter, Koen C. Demaegd, Annemarie F. C. Janse, Roel G. Vink, Boudewijn T. H. M. Sleutjes, Adriano Chiò, Philippe Corcia, Evy Reviers, Ammar Al-Chalabi, Matthew C. Kiernan, Leonard H. van den Berg, Michael A. van Es, Ruben P. A. van Eijk
Publikováno v:
Trials, Vol 23, Iss 1, Pp 1-18 (2022)
Abstract Background Given the large genetic heterogeneity in amyotrophic lateral sclerosis (ALS), it seems likely that genetic subgroups may benefit differently from treatment. An exploratory meta-analysis identified that patients homozygous for the
Externí odkaz:
https://doaj.org/article/30fbd5e916074b949d8c09f8b72ea468