Francesco Nicita

21PUBLICATIONS
56CO-AUTHORS
Medical genetics (excl. cancer genetics)Medical infection agents (incl. prions)Cell and nuclear divisionNeurology and neuromuscular diseasesCellular nervous system
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Publications (21)

|Apr 23, 2026
Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.

|Jan 03, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Jacopo Sartorelli, Davide Tonduti, Elena Ambrosini

|Sep 11, 2025
Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvement.

Fulvio D'Abrusco, Simone Gana, Enrico Alfei

|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

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

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Frequent Collaborators

8 joint publications

Enrico Silvio Bertini

3 joint publications

Lorena Travaglini

3 joint publications

Adele D'Amico

3 joint publications

Jacopo Sartorelli