Sandro Paola-Santa
Via Conte Ruggero 73
Troina, 94018, Italy
Troina, 94018, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients.
Journal: Genes
Published: July 24, 2025
Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily.
Journal: Genes
Published: July 15, 2025
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.
Journal: Genes
Published: May 22, 2025
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study.
Journal: International journal of molecular sciences
Published: September 11, 2024
The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.
Journal: Life (Basel, Switzerland)
Published: January 03, 2023
GPR56 gene down-regulation in patients with Klinefelter Syndrome: a candidate for infertility?
Journal: Minerva endocrinology
Published: December 17, 2020
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson's disease.
Journal: Archives of medical science : AMS
Published: September 08, 2020
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 12, 2015
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Journal: Neuromuscular disorders : NMD
Published: November 04, 2014
Showing 1-11 of 11
Last Updated: 09/26/2026