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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: brown rh. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH Jr, Meininger V, Camu W, Rouleau GA. Hand CK, et al. Among authors: brown rh jr. Am J Hum Genet. 2002 Jan;70(1):251-6. doi: 10.1086/337945. Epub 2001 Nov 9. Am J Hum Genet. 2002. PMID: 11706389 Free PMC article.
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown RH Jr. Sapp PC, et al. Among authors: brown rh jr. Am J Hum Genet. 2003 Aug;73(2):397-403. doi: 10.1086/377158. Epub 2003 Jul 9. Am J Hum Genet. 2003. PMID: 12858291 Free PMC article.
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O. Greenway MJ, et al. Among authors: brown rh jr. Nat Genet. 2006 Apr;38(4):411-3. doi: 10.1038/ng1742. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501576
Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis.
Watanabe S, Nagano S, Duce J, Kiaei M, Li QX, Tucker SM, Tiwari A, Brown RH Jr, Beal MF, Hayward LJ, Culotta VC, Yoshihara S, Sakoda S, Bush AI. Watanabe S, et al. Among authors: brown rh jr. Free Radic Biol Med. 2007 May 15;42(10):1534-42. doi: 10.1016/j.freeradbiomed.2007.02.004. Epub 2007 Feb 15. Free Radic Biol Med. 2007. PMID: 17448900
930 results