Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Isabella, Fogh"'
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:
Zhongbo Chen, Regina H. Reynolds, Antonio F. Pardiñas, Sarah A. Gagliano Taliun, Wouter van Rheenen, Kuang Lin, Aleksey Shatunov, Emil K. Gustavsson, Isabella Fogh, Ashley R. Jones, Wim Robberecht, Philippe Corcia, Adriano Chiò, Pamela J. Shaw, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Vincenzo Silani, John A. Hardy, Henry Houlden, Michael J. Owen, Martin R. Turner, Mina Ryten, Ammar Al-Chalabi
Publikováno v:
Neurobiology of Disease, Vol 180, Iss , Pp 106082- (2023)
Humans are thought to be more susceptible to neurodegeneration than equivalently-aged primates. It is not known whether this vulnerability is specific to anatomically-modern humans or shared with other hominids. The contribution of introgressed Neand
Externí odkaz:
https://doaj.org/article/f01fd2a5dcf3454199658ca3a44ca0e9
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:
Arianna Manini, Valeria Casiraghi, Alberto Brusati, Alessio Maranzano, Francesco Gentile, Eleonora Colombo, Ruggero Bonetti, Silvia Peverelli, Sabrina Invernizzi, Davide Gentilini, Stefano Messina, Federico Verde, Barbara Poletti, Isabella Fogh, Claudia Morelli, Vincenzo Silani, Antonia Ratti, Nicola Ticozzi
Publikováno v:
Frontiers in Aging Neuroscience, Vol 15 (2023)
BackgroundThe UNC13A gene is an established susceptibility locus for amyotrophic lateral sclerosis (ALS) and a determinant of shorter survival after disease onset, with up to 33.0 months difference in life expectancy for carriers of the rs12608932 ri
Externí odkaz:
https://doaj.org/article/ab3bde1bf5394265b98be74e3d334377
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:
Ahmad Al Khleifat, Alfredo Iacoangeli, Ashley R. Jones, Joke J. F. A. van Vugt, Matthieu Moisse, Aleksey Shatunov, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Johnathan Cooper-Knock, Simon Topp, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Ross Byrne, Victoria López, Sarah Opie-Martin, Atay Vural, Yolanda Campos, 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 Povedano 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:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness of voluntary muscles, with death following from neuromuscular respiratory failure
Externí odkaz:
https://doaj.org/article/61449fea63ae4dd59fb2a82311667ab2
Autor:
Arianna Manini, Antonia Ratti, Alberto Brusati, Alessio Maranzano, Isabella Fogh, Silvia Peverelli, Stefano Messina, Davide Gentilini, Federico Verde, Barbara Poletti, Claudia Morelli, Vincenzo Silani, Nicola Ticozzi
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 16, p 9276 (2022)
The transmembrane protein 106B (TMEM106B) gene is a susceptibility factor and disease modifier of frontotemporal dementia, but few studies have investigated its role in amyotrophic lateral sclerosis. The aim of this work was to assess the impact of t
Externí odkaz:
https://doaj.org/article/f58d83db78364e5cac94ce82ed956f03
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:
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