Carmela Scuderi
Via Conte Ruggero 73
Troina, 94018, Italy
Troina, 94018, Italy
Last Updated: 09/26/2026
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Found 25 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
Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.
Journal: Gene
Published: April 08, 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
Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.
Journal: European journal of neurology
Published: June 07, 2023
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
Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.
Journal: Journal of musculoskeletal & neuronal interactions
Published: December 03, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Journal: Frontiers in genetics
Published: September 13, 2019
Last Updated: 09/26/2026