Jacopo Sartorelli
3PUBLICATIONS
12CO-AUTHORS
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Publications (3)
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|Feb 26, 2025
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone
|Feb 06, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone
|Apr 27, 2024
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo
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Frequent Collaborators
3 joint publications
Francesco Nicita
2 joint publications
Giacomo Garone
2 joint publications
Adele D'Amico
1 joint publications
Davide Vecchio
1 joint publications
Lorenzo Sinibaldi
1 joint publications
Fiorella Piemonte
1 joint publications
Antonio Novelli
1 joint publications
Stefano Pro
1 joint publications
Enrico Silvio Bertini
1 joint publications
Maria Grazia Pomponi
