| 1 | FTDALS3, NADGP, SQSTM1
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| Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
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| Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T.
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| Am J Hum Genet 99(3):735-43. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. 2016
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| 2 | FTDALS3, SQSTM1
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| Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.
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| Hirano M, Nakamura Y, Saigoh K, Sakamoto H, Ueno S, Isono C, Miyamoto K, Akamatsu M, Mitsui Y, Kusunoki S.
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| Neurology 80(5):458-63. doi: 10.1212/WNL.0b013e31827f0fe5. Epub 2013 Jan 9.
2013
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| 3 | FTDALS3, SQSTM1
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| SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
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| 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; French Clinical and Genetic Research Network on FTD/FTD-ALS.
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| JAMA Neurol 70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849.
2013
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| 4 | FTDALS3, SQSTM1
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| SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
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| Rubino E, Rainero I, Chiň A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L; TODEM Study Group.
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| Neurology 79(15):1556-62. doi: 10.1212/WNL.0b013e31826e25df. Epub 2012 Sep 12.
2012
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| 5 | FTDALS3, SQSTM1
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| SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
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| 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.
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| Arch Neurol 68(11):1440-6. doi: 10.1001/archneurol.2011.250.
2011
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