Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Nazli A. Başak"'
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:
Brett N. Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Philippe Corcia, Philippe Couratier, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Vivian Drory, Vincenzo Silani, Nicola Ticozzi, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Susana Pinto, Jesus S. Mora Pardina, Mónica Povedano Panades, Peter M. Andersen, Markus Weber, Nazli A. Başak, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Patrick Vourc’h, Richard J. B. Dobson, Gerome Breen, Ammar Al-Chalabi, Ashley R. Jones, Alfredo Iacoangeli
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-ass
Externí odkaz:
https://doaj.org/article/c69bb290778f47b3905ab577dd0339df
Autor:
Sien Hilde Van Daele, Matthieu Moisse, Joke J F A van Vugt, Ramona A J Zwamborn, Rick van der Spek, Wouter van Rheenen, Kristel Van Eijk, Kevin Kenna, Philippe Corcia, Patrick Vourc'h, Philippe Couratier, Orla Hardiman, Russell McLaughin, Marc Gotkine, Vivian Drory, Nicola Ticozzi, Vincenzo Silani, Antonia Ratti, Mamede de Carvalho, Jesús S Mora Pardina, Monica Povedano, Peter M Andersen, Markus Weber, Nazli A Başak, Chris Shaw, Pamela J Shaw, Karen E Morrison, John E Landers, Jonathan D Glass, Michael van Es, Leonard H van den Berg, Ammar Al-Chalabi, Jan Veldink, Philip Van Damme
Publikováno v:
Brain.
With the advent of gene therapies for amyotrophic lateral sclerosis, there is a surge in gene testing for ALS. Although there is ample experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large studies exploring genetic var
Autor:
Brett N Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Philippe Corcia, Philippe Couratier, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Vivian Drory, Vincenzo Silani, Nicola Ticozzi, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Susana Pinto, Jesus S. Mora Pardina, Monica Povedano, Peter M. Andersen, Markus Weber, Nazli A. Başak, Christopher E Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Patrick Vourc’h, Richard JB Dobson, Gerome Breen, Ammar Al-Chalabi, Ashley R Jones, Alfredo Iacoangeli
Publikováno v:
Adey, B N, Cooper-Knock, J, Al Khleifat, A, Fogh, I, van Damme, P, Corcia, P, Couratier, P, Hardiman, O, McLaughlin, R, Gotkine, M, Drory, V, Silani, V, Ticozzi, N, Veldink, J H, van den Berg, L H, de Carvalho, M, Pinto, S, Mora Pardina, J S, Povedano Panades, M, Andersen, P M, Weber, M, Başak, N A, Shaw, C E, Shaw, P J, Morrison, K E, Landers, J E, Glass, J D, Vourc'h, P, Dobson, R J B, Breen, G, Al-Chalabi, A, Jones, A R & Iacoangeli, A 2023, ' Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival ', Frontiers in Cellular Neuroscience, vol. 17, 1112405 . https://doi.org/10.3389/fncel.2023.1112405
Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d08b66f9f07ede4c02972bec2478a29c
https://doi.org/10.1101/2022.11.04.22281798
https://doi.org/10.1101/2022.11.04.22281798
Autor:
Sai Zhang, Johnathan Cooper-Knock, Annika K. Weimer, Minyi Shi, Tobias Moll, Jack N.G. Marshall, Calum Harvey, Helia Ghahremani Nezhad, John Franklin, Cleide dos Santos Souza, Ke Ning, Cheng Wang, Jingjing Li, Allison A. Dilliott, Sali Farhan, Eran Elhaik, Iris Pasniceanu, Matthew R. Livesey, Chen Eitan, Eran Hornstein, Kevin P. Kenna, Jan H. Veldink, Laura Ferraiuolo, Pamela J. Shaw, Michael P. Snyder, Ian Blair, Naomi R. Wray, Matthew Kiernan, Miguel Mitne Neto, Adriano Chio, Ruben Cauchi, Wim Robberecht, Philip van Damme, Philippe Corcia, Philippe Couratier, Orla Hardiman, Russell McLaughin, Marc Gotkine, Vivian Drory, Nicola Ticozzi, Vincenzo Silani, Leonard H. van den Berg, Mamede de Carvalho, Jesus S. Mora Pardina, Monica Povedano, Peter Andersen, Markus Weber, Nazli A. Başak, Ammar Al-Chalabi, Chris Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass
Publikováno v:
Neuron. 110(6)
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death. Despite heritability estimates of 52%, genome-wide association studies (GWASs) have discovered relatively few loci. We developed a machine learning approach ca
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