Bisceglia L - Search Results

1

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Bianco A, Valletti A, Longo G, Bisceglia L, Montoya J, Emperador S, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: bisceglia l. BMC Res Notes. 2018 Dec 20;11(1):911. doi: 10.1186/s13104-018-4025-y. BMC Res Notes. 2018. PMID: 30572950 Free PMC article.

2

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Bianco A, Martínez-Romero I, Bisceglia L, D'Agruma L, Favia P, Ruiz-Pesini E, Guerriero S, Montoya J, Petruzzella V. Bianco A, et al. Among authors: bisceglia l. Brain. 2016 Jan;139(Pt 1):e1. doi: 10.1093/brain/awv216. Epub 2015 Jul 23. Brain. 2016. PMID: 26209315 No abstract available.

3

High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).

Bianco A, Bisceglia L, Russo L, Palese LL, D'Agruma L, Emperador S, Montoya J, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: bisceglia l. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2193-2197. doi: 10.1167/iovs.16-20389. Invest Ophthalmol Vis Sci. 2017. PMID: 28403426

4

Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.

Bianco A, Bisceglia L, Trerotoli P, Russo L, D'Agruma L, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: bisceglia l. Acta Myol. 2017 Sep 1;36(3):163-177. eCollection 2017 Sep. Acta Myol. 2017. PMID: 29774306 Free PMC article.

5

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.

Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: bisceglia l. BMC Med Genet. 2018 Jul 27;19(1):129. doi: 10.1186/s12881-018-0644-3. BMC Med Genet. 2018. PMID: 30053855 Free PMC article.

6

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

Negro R, Zoccolella S, Dell'aglio R, Amati A, Artuso L, Bisceglia L, Lavolpe V, Papa S, Serlenga L, Petruzzella V. Negro R, et al. Among authors: bisceglia l. Neuromuscul Disord. 2009 Jun;19(6):423-6. doi: 10.1016/j.nmd.2009.04.008. Epub 2009 May 9. Neuromuscul Disord. 2009. PMID: 19428252

7

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. Bisceglia L, et al. Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068593 Free PMC article.

8

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: bisceglia l. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581

9

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L. Bisceglia L, et al. Invest Ophthalmol Vis Sci. 2005 Jan;46(1):39-45. doi: 10.1167/iovs.04-0533. Invest Ophthalmol Vis Sci. 2005. PMID: 15623752

10

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al. Gasparini P, et al. Among authors: bisceglia l. Am J Hum Genet. 1995 Oct;57(4):781-8. Am J Hum Genet. 1995. PMID: 7573036 Free PMC article.

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