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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 1
2003 2
2004 1
2008 1
2009 1
2010 1
2012 1
2013 2
2014 1
2015 1
2017 1
2018 2
2019 4
2020 2
2021 2
2022 0
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21 results
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Page 1
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene.
Sferruzza G, Del Bondio A, Citterio A, Vezzulli P, Guerrieri S, Radaelli M, Martinelli Boneschi F, Filippi M, Maltecca F, Bassi MT, Scarlato M. Sferruzza G, et al. Among authors: maltecca f. Neurol Genet. 2021 Mar 9;7(2):e573. doi: 10.1212/NXG.0000000000000573. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33709035 Free PMC article. No abstract available.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A, Tempia F. Mancini C, et al. Among authors: maltecca f. Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30. Neurobiol Dis. 2019. PMID: 30389403 Free article.
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.
Maltecca F, Baseggio E, Consolato F, Mazza D, Podini P, Young SM Jr, Drago I, Bahr BA, Puliti A, Codazzi F, Quattrini A, Casari G. Maltecca F, et al. J Clin Invest. 2015 Jan;125(1):263-74. doi: 10.1172/JCI74770. Epub 2014 Dec 8. J Clin Invest. 2015. PMID: 25485680 Free PMC article.
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F. Tulli S, et al. Among authors: maltecca f. J Med Genet. 2019 Aug;56(8):499-511. doi: 10.1136/jmedgenet-2018-105766. Epub 2019 Mar 25. J Med Genet. 2019. PMID: 30910913 Free PMC article.
Intergenerational instability and marked anticipation in SCA-17.
Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, Carella M, Bruni A, Cocozza S, Casari G, Servadio A, De Michele G. Maltecca F, et al. Neurology. 2003 Nov 25;61(10):1441-3. doi: 10.1212/01.wnl.0000094123.09098.a0. Neurology. 2003. PMID: 14638975
The mitochondrial protease AFG3L2 is essential for axonal development.
Maltecca F, Aghaie A, Schroeder DG, Cassina L, Taylor BA, Phillips SJ, Malaguti M, Previtali S, Guénet JL, Quattrini A, Cox GA, Casari G. Maltecca F, et al. J Neurosci. 2008 Mar 12;28(11):2827-36. doi: 10.1523/JNEUROSCI.4677-07.2008. J Neurosci. 2008. PMID: 18337413 Free PMC article.
21 results