Borgione E - Search Results

1

A Transcriptome Analysis of mRNAs and Long Non-Coding RNAs in Patients with Parkinson's Disease.

Salemi M, Lanza G, Mogavero MP, Cosentino FII, Borgione E, Iorio R, Ventola GM, Marchese G, Salluzzo MG, Ravo M, Ferri R. Salemi M, et al. Among authors: borgione e. Int J Mol Sci. 2022 Jan 28;23(3):1535. doi: 10.3390/ijms23031535. Int J Mol Sci. 2022. PMID: 35163455 Free PMC article.

2

Expression of SpanX mRNA in testicular germ cell tumors.

Salemi M, Calogero AE, Bosco P, Castiglione R, La Vignera S, Borgione E, Rappazzo G, Vicari E. Salemi M, et al. Among authors: borgione e. Hum Cell. 2006 Aug;19(3):87-90. doi: 10.1111/j.1749-0774.2006.00014.x. Hum Cell. 2006. PMID: 17204091

3

Early-onset subcortical ischemic vascular dementia in an adult with mtDNA mutation 3316G>A.

Lanza G, Cantone M, Musso S, Borgione E, Scuderi C, Ferri R. Lanza G, et al. Among authors: borgione e. J Neurol. 2018 Apr;265(4):968-969. doi: 10.1007/s00415-018-8795-x. Epub 2018 Feb 20. J Neurol. 2018. PMID: 29464373 No abstract available.

4

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.

Scuderi C, Saccuzzo L, Vinci M, Castiglia L, Galesi O, Salemi M, Mattina T, Borgione E, Città S, Romano C, Fichera M. Scuderi C, et al. Among authors: borgione e. Eur J Hum Genet. 2019 Apr;27(4):594-602. doi: 10.1038/s41431-018-0321-1. Epub 2019 Jan 18. Eur J Hum Genet. 2019. PMID: 30659260 Free PMC article.

5

The Y831C Mutation of the POLG Gene in Dementia.

Borgione E, Lo Giudice M, Santa Paola S, Giuliano M, Lanza G, Cantone M, Ferri R, Scuderi C. Borgione E, et al. Biomedicines. 2023 Apr 13;11(4):1172. doi: 10.3390/biomedicines11041172. Biomedicines. 2023. PMID: 37189790 Free PMC article.

6

mRNA expression profiling of mitochondrial subunits in subjects with Parkinson's disease.

Salemi M, Cosentino F, Lanza G, Cantone M, Salluzzo MG, Giurato G, Borgione E, Marchese G, Santa Paola S, Lanuzza B, Romano C, Ferri R. Salemi M, et al. Among authors: borgione e. Arch Med Sci. 2021 Mar 28;19(3):678-686. doi: 10.5114/aoms/131629. eCollection 2023. Arch Med Sci. 2021. PMID: 37313207 Free PMC article.

7

How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation.

Borgione E, Giudice ML, Galesi O, Castiglia L, Failla P, Romano C, Ragusa A, Fichera M. Borgione E, et al. J Med Genet. 2001 Jan;38(1):E1. doi: 10.1136/jmg.38.1.e1. J Med Genet. 2001. PMID: 11134240 Free PMC article. No abstract available.

8

A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?

Fichera M, Borgione E, Avola E, Amata S, Sturnio M, Romano C, Ragusa A. Fichera M, et al. Among authors: borgione e. J Med Genet. 2002 Apr;39(4):276-80. doi: 10.1136/jmg.39.4.276. J Med Genet. 2002. PMID: 11950858 Free PMC article. No abstract available.

9

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Borgione E, Sturnio M, Spalletta A, Angela Lo Giudice M, Castiglia L, Galesi O, Ragusa A, Fichera M. Borgione E, et al. Hum Mutat. 2003 May;21(5):529-34. doi: 10.1002/humu.10183. Hum Mutat. 2003. PMID: 12673795

10

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.

Scuderi C, Borgione E, Musumeci S, Elia M, Castello F, Fichera M, Davidzon G, DiMauro S. Scuderi C, et al. Among authors: borgione e. Neuromuscul Disord. 2007 Mar;17(3):258-61. doi: 10.1016/j.nmd.2006.11.006. Epub 2007 Jan 22. Neuromuscul Disord. 2007. PMID: 17241783

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