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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. Sreedharan J, et al. Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28. Science. 2008. PMID: 18309045 Free PMC article.
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE. Vance C, et al. Among authors: sreedharan j. Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942. Science. 2009. PMID: 19251628 Free PMC article.
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Gkazi SA, Troakes C, Topp S, Miller JW, Vance CA, Sreedharan J, Al-Chalabi A, Kirby J, Shaw PJ, Al-Sarraj S, King A, Smith BN, Shaw CE. Gkazi SA, et al. Among authors: sreedharan j. Neurobiol Aging. 2019 Jan;73:229.e5-229.e9. doi: 10.1016/j.neurobiolaging.2018.08.015. Epub 2018 Aug 24. Neurobiol Aging. 2019. PMID: 30348461
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion.
Mitchell JC, McGoldrick P, Vance C, Hortobagyi T, Sreedharan J, Rogelj B, Tudor EL, Smith BN, Klasen C, Miller CC, Cooper JD, Greensmith L, Shaw CE. Mitchell JC, et al. Among authors: sreedharan j. Acta Neuropathol. 2013 Feb;125(2):273-88. doi: 10.1007/s00401-012-1043-z. Epub 2012 Sep 9. Acta Neuropathol. 2013. PMID: 22961620 Free PMC article.
Predicting the future of ALS: the impact of demographic change and potential new treatments on the prevalence of ALS in the United Kingdom, 2020-2116.
Gowland A, Opie-Martin S, Scott KM, Jones AR, Mehta PR, Batts CJ, Ellis CM, Leigh PN, Shaw CE, Sreedharan J, Al-Chalabi A. Gowland A, et al. Among authors: sreedharan j. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):264-274. doi: 10.1080/21678421.2019.1587629. Epub 2019 Apr 9. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30961394 Free PMC article.
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Rutherford NJ, et al. Among authors: sreedharan j. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 Free PMC article.
Does genetic anticipation occur in familial Alexander disease?
Hunt CK, Al Khleifat A, Burchill E, Ederle J, Al-Chalabi A, Sreedharan J. Hunt CK, et al. Among authors: sreedharan j. Neurogenetics. 2021 Jul;22(3):215-219. doi: 10.1007/s10048-021-00642-9. Epub 2021 May 28. Neurogenetics. 2021. PMID: 34046764 Free PMC article.
138 results