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One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2).
Schirinzi T, Favetta M, Romano A, Sancesario A, Summa S, Minosse S, Zanni G, Castelli E, Bertini E, Petrarca M, Vasco G. Schirinzi T, et al. Among authors: bertini e. Cerebellum Ataxias. 2019 Dec 16;6:15. doi: 10.1186/s40673-019-0109-2. eCollection 2019. Cerebellum Ataxias. 2019. PMID: 31890231 Free PMC article.
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: bertini es. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
X-linked disorders with cerebellar dysgenesis.
Zanni G, Bertini ES. Zanni G, et al. Orphanet J Rare Dis. 2011 May 15;6:24. doi: 10.1186/1750-1172-6-24. Orphanet J Rare Dis. 2011. PMID: 21569638 Free PMC article. Review.
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F, Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E. Terracciano A, et al. Among authors: bertini e. Eur J Paediatr Neurol. 2012 May;16(3):248-56. doi: 10.1016/j.ejpn.2011.07.016. Epub 2011 Aug 27. Eur J Paediatr Neurol. 2012. PMID: 21873089 Free PMC article.
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.
Pane M, Lombardo ME, Alfieri P, D'Amico A, Bianco F, Vasco G, Piccini G, Mallardi M, Romeo DM, Ricotti V, Ferlini A, Gualandi F, Vicari S, Bertini E, Berardinelli A, Mercuri E. Pane M, et al. Among authors: bertini e. J Pediatr. 2012 Oct;161(4):705-9.e1. doi: 10.1016/j.jpeds.2012.03.020. Epub 2012 May 5. J Pediatr. 2012. PMID: 22560791
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
Zanni G, Calì T, Kalscheuer VM, Ottolini D, Barresi S, Lebrun N, Montecchi-Palazzi L, Hu H, Chelly J, Bertini E, Brini M, Carafoli E. Zanni G, et al. Among authors: bertini e. Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14514-9. doi: 10.1073/pnas.1207488109. Epub 2012 Aug 21. Proc Natl Acad Sci U S A. 2012. PMID: 22912398 Free PMC article.
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B. Quattrocchi CC, et al. Among authors: bertini e. Neurogenetics. 2013 Feb;14(1):77-83. doi: 10.1007/s10048-012-0352-7. Epub 2012 Dec 30. Neurogenetics. 2013. PMID: 23274687
904 results