Di Blasi FD - Search Results

1

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA. Scuderi C, et al. Among authors: di blasi fd. Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Neuromuscul Disord. 2015. PMID: 25660390 Review.

2

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Fichera M, Elia M, Amato C, Savio M, Di Blasi FD, Vitello GA, Romano S, DiMauro S, Musumeci SA. Scuderi C, et al. Among authors: di blasi fd. Mitochondrion. 2010 Aug;10(5):548-54. doi: 10.1016/j.mito.2010.04.004. Epub 2010 Apr 28. Mitochondrion. 2010. PMID: 20433951

3

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

Borgione E, Lo Giudice M, Castello F, Musumeci SA, Di Blasi FD, Savio M, Elia M, Rizzo B, Barbarino G, Romano S, Calabrese G, Di Benedetto D, Scuderi C. Borgione E, et al. Among authors: di benedetto d, di blasi fd. Neurol Sci. 2013 Jul;34(7):1223-6. doi: 10.1007/s10072-013-1297-9. Epub 2013 Jan 25. Neurol Sci. 2013. PMID: 23354605

4

Reading Deficits in Intellectual Disability Are still an Open Question: A Narrative Review.

Di Blasi FD, Buono S, Città S, Costanzo AA, Zoccolotti P. Di Blasi FD, et al. Brain Sci. 2018 Aug 7;8(8):146. doi: 10.3390/brainsci8080146. Brain Sci. 2018. PMID: 30087288 Free PMC article. Review.

5

The Mitochondrial tRNA^Ser(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

Borgione E, Lo Giudice M, Santa Paola S, Giuliano M, Di Blasi FD, Di Stefano V, Lupica A, Brighina F, Pettinato R, Romano C, Scuderi C. Borgione E, et al. Among authors: di blasi fd. Life (Basel). 2023 Feb 16;13(2):554. doi: 10.3390/life13020554. Life (Basel). 2023. PMID: 36836911 Free PMC article. Review.

6

Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.

Santa Paola S, Di Blasi FD, Borgione E, Lo Giudice M, Giuliano M, Pettinato R, Di Stefano V, Brighina F, Lupica A, Scuderi C. Santa Paola S, et al. Among authors: di blasi fd. Genes (Basel). 2024 Jan 21;15(1):134. doi: 10.3390/genes15010134. Genes (Basel). 2024. PMID: 38275615 Free PMC article.

7

The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study.

Giuliano M, Santa Paola S, Borgione E, Lo Giudice M, Di Blasi FD, Pettinato R, Romano C, Scuderi C. Giuliano M, et al. Among authors: di blasi fd. Int J Mol Sci. 2024 Oct 9;25(19):10826. doi: 10.3390/ijms251910826. Int J Mol Sci. 2024. PMID: 39409155 Free PMC article.

8

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.

Calì F, Di Blasi FD, Avola E, Vinci M, Musumeci A, Gloria A, Greco D, Raciti DR, Zagami A, Rizzo B, Città S, Federico C, Vetri L, Saccone S, Buono S. Calì F, et al. Among authors: di blasi fd. Medicina (Kaunas). 2023 Aug 21;59(8):1503. doi: 10.3390/medicina59081503. Medicina (Kaunas). 2023. PMID: 37629793 Free PMC article.

9

Reading skills in children with mild to borderline intellectual disability: a cross-sectional study on second to eighth graders.

Di Blasi FD, Buono S, Cantagallo C, Di Filippo G, Zoccolotti P. Di Blasi FD, et al. J Intellect Disabil Res. 2019 Aug;63(8):1023-1040. doi: 10.1111/jir.12620. Epub 2019 Apr 15. J Intellect Disabil Res. 2019. PMID: 30985057

10

Relationships between visual-motor and cognitive abilities in intellectual disabilities.

Di Blasi FD, Elia F, Buono S, Ramakers GJ, Di Nuovo SF. Di Blasi FD, et al. Among authors: di nuovo sf. Percept Mot Skills. 2007 Jun;104(3 Pt 1):763-72. doi: 10.2466/pms.104.3.763-772. Percept Mot Skills. 2007. PMID: 17688131

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