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229 results

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Page 1
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: sorenson e. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 Free PMC article.
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Among authors: sorenson e. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery.
Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH Jr, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, Sherman A, Mailman MD, Ostell J, Bruijn L, Cwik V, Rich SS, Singleton A, Refolo L, Andrews J, Zhang R, Conwit R, Keller MA; ALS Research Group. Gwinn K, et al. Among authors: sorenson e. PLoS One. 2007 Dec 5;2(12):e1254. doi: 10.1371/journal.pone.0001254. PLoS One. 2007. PMID: 18060051 Free PMC article.
Primary lateral sclerosis natural history study - planning, designing, and early enrollment.
Mitsumoto H, Jang G, Lee I, Simmons Z, Sherman AV, Heitzman D, Sorenson E, Cheung K, Andrews J, Harms M, Shneider NA, Santella R, Paganoni S, Ajroud-Driss S, Fernandes JAM, Burke KM, Gwathmey K, Habib AA, Maragakis NJ, Walk D, Fournier C, Heiman-Patterson T, Wymer J, Diaz F, Scelsa SN, Elman L, Genge A, Goutman SA, Hayat G, Jawdat O, Johnston WS, Joyce NC, Kasarskis EJ, Kisanuki YY, Lomen-Hoerth C, Pulley MT, Shah JS, Shoesmith C, Zinman L; PLS Natural History Study Group.. Mitsumoto H, et al. Among authors: sorenson e. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):394-404. doi: 10.1080/21678421.2022.2161912. Epub 2022 Dec 28. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36576200
Subcutaneous IGF-1 is not beneficial in 2-year ALS trial.
Sorenson EJ, Windbank AJ, Mandrekar JN, Bamlet WR, Appel SH, Armon C, Barkhaus PE, Bosch P, Boylan K, David WS, Feldman E, Glass J, Gutmann L, Katz J, King W, Luciano CA, McCluskey LF, Nash S, Newman DS, Pascuzzi RM, Pioro E, Sams LJ, Scelsa S, Simpson EP, Subramony SH, Tiryaki E, Thornton CA. Sorenson EJ, et al. Neurology. 2008 Nov 25;71(22):1770-5. doi: 10.1212/01.wnl.0000335970.78664.36. Neurology. 2008. PMID: 19029516 Free PMC article. Clinical Trial.
Longitudinal Screening Detects Cognitive Stability and Behavioral Deterioration in ALS Patients.
Woolley S, Goetz R, Factor-Litvak P, Murphy J, Hupf J, Garofalo DC, Lomen-Hoerth C, Andrews H, Heitzman D, Bedlack R, Katz J, Barohn R, Sorenson E, Oskarsson B, Filho AF, Kasarskis E, Mozaffar T, Nations S, Swenson A, Koczon-Jaremko A, Christodoulou G, Mitsumoto H. Woolley S, et al. Among authors: sorenson e. Behav Neurol. 2018 Oct 31;2018:5969137. doi: 10.1155/2018/5969137. eCollection 2018. Behav Neurol. 2018. PMID: 30515252 Free PMC article.
Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials.
van den Berg LH, Sorenson E, Gronseth G, Macklin EA, Andrews J, Baloh RH, Benatar M, Berry JD, Chio A, Corcia P, Genge A, Gubitz AK, Lomen-Hoerth C, McDermott CJ, Pioro EP, Rosenfeld J, Silani V, Turner MR, Weber M, Brooks BR, Miller RG, Mitsumoto H; Airlie House ALS Clinical Trials Guidelines Group. van den Berg LH, et al. Among authors: sorenson e. Neurology. 2019 Apr 2;92(14):e1610-e1623. doi: 10.1212/WNL.0000000000007242. Epub 2019 Mar 8. Neurology. 2019. PMID: 30850440 Free PMC article.
Primary lateral sclerosis (PLS) functional rating scale: PLS-specific clinimetric scale.
Mitsumoto H, Chiuzan C, Gilmore M, Zhang Y, Simmons Z, Paganoni S, Kisanuki YY, Zinman L, Jawdat O, Sorenson E, Floeter MK, Pioro EP, Fernandes Filho JAM, Heitzman D, Fournier CN, Oskarsson B, Heiman-Patterson T, Maragakis N, Joyce N, Hayat G, Nations S, Scelsa S, Walk D, Elman L, Hupf J, McHale B; PLSFRS study group. Mitsumoto H, et al. Among authors: sorenson e. Muscle Nerve. 2020 Feb;61(2):163-172. doi: 10.1002/mus.26765. Epub 2019 Dec 13. Muscle Nerve. 2020. PMID: 31758557
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Cochrane T, Chary S, Chew S, Zhu H, Wu F, Nestorov I, Graham D, Sun P, McNeill M, Fanning L, Ferguson TA, Fradette S; VALOR and OLE Working Group. Miller TM, et al. N Engl J Med. 2022 Sep 22;387(12):1099-1110. doi: 10.1056/NEJMoa2204705. N Engl J Med. 2022. PMID: 36129998 Free article. Clinical Trial.
A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS.
Gordon PH, Cheung YK, Levin B, Andrews H, Doorish C, Macarthur RB, Montes J, Bednarz K, Florence J, Rowin J, Boylan K, Mozaffar T, Tandan R, Mitsumoto H, Kelvin EA, Chapin J, Bedlack R, Rivner M, McCluskey LF, Pestronk A, Graves M, Sorenson EJ, Barohn RJ, Belsh JM, Lou JS, Levine T, Saperstein D, Miller RG, Scelsa SN; Combination Drug Selection Trial Study Group. Gordon PH, et al. Amyotroph Lateral Scler. 2008 Aug;9(4):212-22. doi: 10.1080/17482960802195632. Amyotroph Lateral Scler. 2008. PMID: 18608093 Free PMC article. Clinical Trial.
229 results