Nguyen HP, Van Broeckhoven C, van der Zee J

ALS Genes in the Genomic Era and their Implications for FTD.

Trends Genet 34:404-423 (2018)
DOI:10.1016/j.tig.2018.03.001

Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

Arch Neurol 68:1440-6 (2011)
DOI:10.1001/archneurol.2011.250

Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

JAMA Neurol 70:1403-10 (2013)
DOI:10.1001/jamaneurol.2013.3849

Cavey JR, Ralston SH, Hocking LJ, Sheppard PW, Ciani B, Searle MS, Layfield R

Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations.

J Bone Miner Res 20:619-24 (2005)
DOI:10.1359/JBMR.041205

Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evila A, Hackman P, Udd B, Harms MB, Weihl CC

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Neurology 85:665-74 (2015)
DOI:10.1212/WNL.0000000000001864