Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

Autor: Black, Holly A., Leighton, Danielle J., Cleary, Elaine M., Rose, Elaine, Stephenson, Laura, Colville, Shuna, Ross, David, Warner, Jon, Porteous, Mary, Gorrie, George H., Swingler, Robert, Goldstein, David, Harms, Matthew B., Connick, Peter, Pal, Suvankar, Aitman, Timothy J., Chandran, Siddharthan

Publikováno v: In Neurobiology of Aging March 2017 51:178-178

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

Autor: Devlin, Anna Claire, Burr, Karen, Borooah, Shyamanga, Foster, Joshua D., Cleary, Elaine M., Geti, Imbisaat, Vallier, Ludovic, Shaw, Christopher E., Chandran, Siddharthan, Miles, Gareth B.

Publikováno v: Nature Communications
Devlin, A-C, Burr, K, Borooah, S, Foster, J D, Cleary, E M, Geti, I, Vallier, L, Shaw, C E, Chandran, S & Miles, G B 2015, ' Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability ', Nature Communications, vol. 6, 5999 . https://doi.org/10.1038/ncomms6999
Devlin, A C, Burr, K, Borooah, S, Foster, J D, Cleary, E M, Geti, I, Vallier, L, Shaw, C E, Chandran, S & Miles, G B 2015, ' Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability ', Nature Communications, vol. 6, 5999 . https://doi.org/10.1038/ncomms6999

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease for which a greater understanding of early disease mechanisms is needed to reveal novel therapeutic targets. We report the use of human induced pluripotent stem cell (iPSC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::162dfef7657c78caacd16ae3a9b561da
https://pubmed.ncbi.nlm.nih.gov/25580746

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Corrigendum to “Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.” [Neurobiol. Aging 51 (2017) 178.e11–178.e20]

Autor: Black, Holly A., Leighton, Danielle J., Cleary, Elaine M., Rose, Elaine, Stephenson, Laura, Colville, Shuna, Ross, David, Warner, Jon, Porteous, Mary, Gorrie, George H., Swingler, Robert, Goldstein, David, Harms, Matthew B., Connick, Peter, Pal, Suvankar, Aitman, Timothy J., Chandran, Siddharthan

Publikováno v: In Neurobiology of Aging August 2017 56:214-214