Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Russell McLaughin"'
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:
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:
Vincenzo Silani, Mamede de Carvalho, Nicola Ticozzi, Joke J.F.A. van Vugt, Kristel R. van Eijk, Patrick Vourc'h, Markus Weber, Wouter van Rheenen, Kevin P. Kenna, Christopher Shaw, Wim Robberecht, Philippe Couratier, Mònica Povedano, Jonathan D. Glass, Pamela J. Shaw, Ramona A. J. Zwamborn, Ammar Al-Chalabi, John Landers, Michael A. Eberle, Michael A. van Es, Xiao Chen, Leonard H. van den Berg, Brendan J. Kenna, Philippe Corcia, Karen E. Morrison, Marc Gotkine, Russell McLaughin, Peter M. Andersen, Matthieu Moisse, Philip Van Damme, Rick A.A. van der Spek, Jesus S. Mora Pardina, Orla Hardiman, Vivian E. Drory, Jan H. Veldink, Nazli Basak
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2021, 89 (4), pp.686-697. ⟨10.1002/ana.26009⟩
Moisse, M, Zwamborn, R A J, van Vugt, J, van der Spek, R, van Rheenen, W, Kenna, B, Van Eijk, K, Kenna, K, Corcia, P, Couratier, P, Vourc'h, P, Hardiman, O, McLaughin, R, Gotkine, M, Drory, V, Ticozzi, N, Silani, V, de Carvalho, M, Mora Pardina, J S, Povedano, M, Andersen, P M, Weber, M, Başak, N A, Chen, X, Eberle, M A, Al-Chalabi, A, Shaw, C, Shaw, P J, Morrison, K E, Landers, J E, Glass, J D, Robberecht, W, van Es, M, van den Berg, L, Veldink, J & Van Damme, P 2021, ' The Effect of SMN Gene Dosage on ALS Risk and Disease Severity ', Annals of neurology, vol. 89, no. 4, pp. 686-697 . https://doi.org/10.1002/ana.26009
Annals of Neurology, Wiley, 2021, 89 (4), pp.686-697. ⟨10.1002/ana.26009⟩
Moisse, M, Zwamborn, R A J, van Vugt, J, van der Spek, R, van Rheenen, W, Kenna, B, Van Eijk, K, Kenna, K, Corcia, P, Couratier, P, Vourc'h, P, Hardiman, O, McLaughin, R, Gotkine, M, Drory, V, Ticozzi, N, Silani, V, de Carvalho, M, Mora Pardina, J S, Povedano, M, Andersen, P M, Weber, M, Başak, N A, Chen, X, Eberle, M A, Al-Chalabi, A, Shaw, C, Shaw, P J, Morrison, K E, Landers, J E, Glass, J D, Robberecht, W, van Es, M, van den Berg, L, Veldink, J & Van Damme, P 2021, ' The Effect of SMN Gene Dosage on ALS Risk and Disease Severity ', Annals of neurology, vol. 89, no. 4, pp. 686-697 . https://doi.org/10.1002/ana.26009
Objective: the role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3715c4d9f16d388386c6a85027bec3ed
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9307
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9307