Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
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.
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Borgione E, Castello F, Lo Giudice M, Santa Paola S, Salvatore S, Berti G, Malandrini A, Bottitta M, Musumeci SA, Scuderi C.
Borgione E, et al. Among authors: santa paola s.
Neurol Sci. 2016 May;37(5):805-7. doi: 10.1007/s10072-015-2439-z. Epub 2015 Dec 23.
Neurol Sci. 2016.
PMID: 26700800
No abstract available.
Item in Clipboard
The Mitochondrial tRNASer(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: santa paola s.
Life (Basel). 2023 Feb 16;13(2):554. doi: 10.3390/life13020554.
Life (Basel). 2023.
PMID: 36836911
Free PMC article.
Review.
Item in Clipboard
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. Among authors: santa paola s.
Biomedicines. 2023 Apr 13;11(4):1172. doi: 10.3390/biomedicines11041172.
Biomedicines. 2023.
PMID: 37189790
Free PMC article.
Item in Clipboard
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: santa paola s.
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.
Item in Clipboard
GPR56 gene down-regulation in patients with Klinefelter Syndrome: a candidate for infertility?
Salemi M, Cannarella R, Cimino L, Condorelli RA, Giurato G, Marchese G, Cordella A, Santa Paola S, Romano C, LA Vignera S, Calogero AE.
Salemi M, et al. Among authors: santa paola s.
Minerva Endocrinol (Torino). 2021 Dec;46(4):384-388. doi: 10.23736/S2724-6507.20.03357-X. Epub 2020 Dec 17.
Minerva Endocrinol (Torino). 2021.
PMID: 33331742
Item in Clipboard
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.
Genes (Basel). 2024 Jan 21;15(1):134. doi: 10.3390/genes15010134.
Genes (Basel). 2024.
PMID: 38275615
Free PMC article.
Item in Clipboard
Cite
Cite