Bertini ES - Search Results

1

CAPRIN1^P512L causes aberrant protein aggregation and associates with early-onset ataxia.

Delle Vedove A, Natarajan J, Zanni G, Eckenweiler M, Muiños-Bühl A, Storbeck M, Guillén Boixet J, Barresi S, Pizzi S, Hölker I, Körber F, Franzmann TM, Bertini ES, Kirschner J, Alberti S, Tartaglia M, Wirth B. Delle Vedove A, et al. Among authors: bertini es. Cell Mol Life Sci. 2022 Sep 22;79(10):526. doi: 10.1007/s00018-022-04544-3. Cell Mol Life Sci. 2022. PMID: 36136249 Free PMC article.

2

X-linked congenital ataxia: a clinical and genetic study.

Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423

3

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

4

X-linked disorders with cerebellar dysgenesis.

Zanni G, Bertini ES. Zanni G, et al. Among authors: bertini es. 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.

5

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. 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.

6

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. 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.

7

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. Neurogenetics. 2013 Feb;14(1):77-83. doi: 10.1007/s10048-012-0352-7. Epub 2012 Dec 30. Neurogenetics. 2013. PMID: 23274687

8

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Zanni G, Colafati GS, Barresi S, Randisi F, Talamanca LF, Genovese E, Bellacchio E, Bartuli A, Bernardi B, Bertini E. Zanni G, et al. Eur J Paediatr Neurol. 2013 Jul;17(4):361-5. doi: 10.1016/j.ejpn.2012.12.006. Epub 2013 Jan 11. Eur J Paediatr Neurol. 2013. PMID: 23317684

9

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W. Zanni G, et al. Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371-z. Epub 2013 Aug 24. Neurogenetics. 2013. PMID: 23975261

10

In vitro neurogenesis: development and functional implications of iPSC technology.

Compagnucci C, Nizzardo M, Corti S, Zanni G, Bertini E. Compagnucci C, et al. Cell Mol Life Sci. 2014 May;71(9):1623-39. doi: 10.1007/s00018-013-1511-1. Epub 2013 Nov 20. Cell Mol Life Sci. 2014. PMID: 24252976 Review.

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