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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A. Di Gregorio E, et al. Among authors: montarolo f. J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7. J Med Genet. 2013. PMID: 23749989 Free PMC article.
Emerging roles of Fgf14 in behavioral control.
Hoxha E, Marcinnò A, Montarolo F, Masante L, Balbo I, Ravera F, Laezza F, Tempia F. Hoxha E, et al. Among authors: montarolo f. Behav Brain Res. 2019 Jan 1;356:257-265. doi: 10.1016/j.bbr.2018.08.034. Epub 2018 Sep 3. Behav Brain Res. 2019. PMID: 30189289 Free PMC article.
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: montarolo 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.
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Balbo I, Montarolo F, Boda E, Tempia F, Hoxha E. Balbo I, et al. Among authors: montarolo f. Front Neuroanat. 2021 Apr 29;15:669073. doi: 10.3389/fnana.2021.669073. eCollection 2021. Front Neuroanat. 2021. PMID: 33994961 Free PMC article.
Elovl5 is required for proper action potential conduction along peripheral myelinated fibers.
Hoxha E, Balbo I, Parolisi R, Audano M, Montarolo F, Ravera F, Guglielmotto M, Muratori L, Raimondo S, DiGregorio E, Buffo A, Brusco A, Borroni B, Mitro N, Caruso D, Tempia F. Hoxha E, et al. Among authors: montarolo f. Glia. 2021 Oct;69(10):2419-2428. doi: 10.1002/glia.24048. Epub 2021 Jun 17. Glia. 2021. PMID: 34139039 Free PMC article.
NURR1-deficient mice have age- and sex-specific behavioral phenotypes.
Montarolo F, Martire S, Chiara F, Allegra S, De Francia S, Hoxha E, Tempia F, Capobianco MA, Bertolotto A. Montarolo F, et al. J Neurosci Res. 2022 Sep;100(9):1747-1754. doi: 10.1002/jnr.25067. Epub 2022 May 20. J Neurosci Res. 2022. PMID: 35593070 Free PMC article.
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