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Year Number of Results
2011 1
2012 7
2013 5
2014 7
2015 3
2016 4
2024 0

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26 results

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Page 1
Emerging mechanisms of molecular pathology in ALS.
Peters OM, Ghasemi M, Brown RH Jr. Peters OM, et al. J Clin Invest. 2015 May;125(5):1767-79. doi: 10.1172/JCI71601. Epub 2015 May 1. J Clin Invest. 2015. PMID: 25932674 Free PMC article. Review.
Mutant SOD1 protein increases Nav1.3 channel excitability.
Kubat Öktem E, Mruk K, Chang J, Akin A, Kobertz WR, Brown RH Jr. Kubat Öktem E, et al. J Biol Phys. 2016 Jun;42(3):351-70. doi: 10.1007/s10867-016-9411-x. Epub 2016 Apr 12. J Biol Phys. 2016. PMID: 27072680 Free PMC article.
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP. Williams KL, et al. Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253. Nat Commun. 2016. PMID: 27080313 Free PMC article.
Mitochondrial DNA variations in Madras motor neuron disease.
Govindaraj P, Nalini A, Krishna N, Sharath A, Khan NA, Tamang R, Gourie-Devi M, Brown RH, Thangaraj K. Govindaraj P, et al. Mitochondrion. 2013 Nov;13(6):721-8. doi: 10.1016/j.mito.2013.02.003. Epub 2013 Feb 16. Mitochondrion. 2013. PMID: 23419391 Free PMC article.
TNXB mutations can cause vesicoureteral reflux.
Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP. Gbadegesin RA, et al. J Am Soc Nephrol. 2013 Jul;24(8):1313-22. doi: 10.1681/ASN.2012121148. Epub 2013 Apr 25. J Am Soc Nephrol. 2013. PMID: 23620400 Free PMC article.
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J. Fogh I, et al. JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114. JAMA Neurol. 2016. PMID: 27244217 Free PMC article.
A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.
Hall G, Gbadegesin RA, Lavin P, Wu G, Liu Y, Oh EC, Wang L, Spurney RF, Eckel J, Lindsey T, Homstad A, Malone AF, Phelan PJ, Shaw A, Howell DN, Conlon PJ, Katsanis N, Winn MP. Hall G, et al. J Am Soc Nephrol. 2015 Apr;26(4):831-43. doi: 10.1681/ASN.2013101053. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145932 Free PMC article.
A yeast model of FUS/TLS-dependent cytotoxicity.
Ju S, Tardiff DF, Han H, Divya K, Zhong Q, Maquat LE, Bosco DA, Hayward LJ, Brown RH Jr, Lindquist S, Ringe D, Petsko GA. Ju S, et al. PLoS Biol. 2011 Apr;9(4):e1001052. doi: 10.1371/journal.pbio.1001052. Epub 2011 Apr 26. PLoS Biol. 2011. PMID: 21541368 Free PMC article.
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Ruzzo EK, et al. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
26 results