Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Project Mine Als Sequencing Consortium"'
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:
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:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/b08aebba67f346b6a340f3cc87fac551
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP
Externí odkaz:
https://doaj.org/article/6c41a4f4e8fe4f95afcbf96cee484c70
Autor:
Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Project MinE ALS Sequencing Consortium, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby, Pamela J. Shaw, Ahmad Al Kheifat, Ammar Al-Chalabi, Nazli Basak, Ian Blair, Annelot Dekker, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Kevin Kenna, John Landers, Russel McLaughlin, Jonathan Mill, Bas Middelkoop, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Sara Pulit, Aleksey Shatunov, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristelvan Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Maarten Kooyman, Jonathan Glass, Wim Robberecht, Marc Gotkine, Vivian Drory, Matthew Kiernan, Miguel Mitne Neto, Mayana Ztaz, Philippe Couratier, Philippe Corcia, Vincenzo Silani, Adriano Chio, Mamede de Carvalho, Susana Pinto, Alberto Garcia Redondo, Peter Andersen, Markus Weber, Nicola Ticozzi
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs). We hypothesized that screening genes encoding additi
Externí odkaz:
https://doaj.org/article/37b028ed777e4060add426ccea440b63
Autor:
Zhang, S., Cooper-Knock, J., Weimer, A.K., Shi, M., Moll, T., Marshall, J.N.G., Harvey, C., Nezhad, H.G., Franklin, J., Souza, C.D.S., Ning, K., Wang, C., Li, J., Dilliott, A.A., Farhan, S., Elhaik, E., Pasniceanu, I., Livesey, M.R., Eitan, C., Hornstein, E., Kenna, K.P., Project MinE ALS Sequencing Consortium, (The), Veldink, J.H., Ferraiuolo, L., Shaw, P.J., Snyder, M.P.
Publikováno v:
Neuron
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::cf67a5913657ec95ba841d1697d8187a
https://eprints.whiterose.ac.uk/182974/1/PIIS0896627321010369.pdf
https://eprints.whiterose.ac.uk/182974/1/PIIS0896627321010369.pdf
Autor:
Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John Franklin, Samantha Allen, Helia Ghahremani Nezhad, Nancy S. Yacovzada, Chen Eitan, Eran Hornstein, Eran Ehilak, Petra Celadova, Daniel Bose, Sali MK Farhan, Simon Fishilevich, Doron Lancet, Karen E. Morrison, Chris Shaw, Ammar Al-Chalabi, Project MinE ALS Sequencing Consortium, Jan H. Veldink, Janine Kirby, Michael P. Snyder, Pamela J. Shaw
Publikováno v:
SSRN Electronic Journal.
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease. CAV1 and CAV2 organise membrane lipid rafts (MLR) important for cell signalling and neuronal survival, and overexpression of CAV1 ameliorates ALS phenotypes in vivo. Genom
Autor:
Tazelaar, G.H.P., Dekker, A.M., van Vugt, J.J.F.A., van der Spek, R.A., Westeneng, H.-J., Kool, L.J.B.G., Kenna, K.P., van Rheenen, W., Pulit, S.L., McLaughlin, R.L., Sproviero, W., Iacoangeli, A., Hübers, A., Brenner, D., Morrison, K.E., Shaw, P.J., Shaw, C.E., Panadés, M.P., Mora Pardina, J.S., Glass, J.D., Hardiman, O., Al-Chalabi, A., van Damme, P., Robberecht, W., Landers, J.E., Ludolph, A.C., Weishaupt, J.H., van den Berg, L.H., Veldink, J.H., van Es, M.A., Project MinE ALS Sequencing Consortium, .
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). Previously,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::61b9def76cbbfcdc6c62708eb960f616
Autor:
Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella L., Logroscino, Giancarlo, Salvi, Fabrizio, Van Eijk, Kristel R., Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell, Van Es, Michael A., Dekker, Annelot, Pulit, Sara, Tazelaar, Gijs, van den Berg, Leonard, Veldink, Jan H., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10691::d9968a1bda6a17a4fb50e30466679072
https://dspace.library.uu.nl/handle/1874/363799
https://dspace.library.uu.nl/handle/1874/363799
Autor:
Cooper-Knock, J., Robins, H., Niedermoser, I., Wyles, M., Heath., P.R., Higginbottom, A., Walsh, T., Kazoka, M., Project MinE ALS Sequencing Consortium, ., Ince, P.G., Hautbergue, G.M., McDermott, C.J., Kirby, J., Shaw, P.J.
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs). We hypothesized that screening genes encoding additi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::debc36bc57a9644e5f1dc6944c4651de