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Sandro Santa Paola

Observed names: Sandro Paola, Sandro SANTA PAOLA
ORCID: 0000-0002-3310-782X
Observed ORCID: 0000-0002-3310-782X
OpenAlex ID: A5007144626
The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
2015 · Carmela Scuderi, Eugenia Borgione, et al. · Neuromuscular Disorders · 24
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease
2021 · Michele Salemi, Filomena Cosentino, et al. · Archives of Medical Science · 16
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Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
2024 · Sandro Santa Paola, Francesco Domenico Di Blasi, et al. · Genes · 6
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The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
2023 · Eugenia Borgione, Mariangela Lo Giudice, et al. · Life · 6
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Genetic and Clinical Spectrum of Limb–Girdle Muscular Dystrophies in Western Sicily
2025 · Nicasio Rini, Antonino Lupica, et al. · Genes · 4
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The Y831C Mutation of the POLG Gene in Dementia
2023 · Eugenia Borgione, Mariangela Lo Giudice, et al. · Biomedicines · 4
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Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome
2025 · Mariangela Lo Giudice, Eugenia Borgione, et al. · Genes · 3
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Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability
2022 · Carmela Scuderi, Sandro Santa Paola, et al. · Research in Autism · 2
GPR56 gene down-regulation in patients with Klinefelter Syndrome: a candidate for infertility?
2022 · Michele SALEMI, Rossella CANNARELLA, et al. · Minerva Endocrinology · 2
GPR56 gene down-regulation in patients with Klinefelter syndrome: a candidate for infertility?
2020 · Michele Salemi, Rossella Cannarella, et al. · Minerva Endocrinology · 2
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
2015 · Eugenia Borgione, Filippa Castello, et al. · Neurological Sciences · 2
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients
2025 · Marika Giuliano, Eugenia Borgione, et al. · Genes · 1
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Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20
2025 · Eugenia Borgione, Ornella Galesi, et al. · Gene
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study
2024 · Marika Giuliano, Sandro Santa Paola, et al. · International Journal of Molecular Sciences
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Poly (ADP-ribose) polymerase 1 expression in fibroblasts of Down syndrome subjects
2013 · Michele Salemi, Concetta Barone, et al. · Open Medicine
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Works count: 15
Citation count: 72
H-index: 4
I10-index: 2
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