Francesco Nicita

Rome, Italy

Last Updated: 09/26/2026

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Found 129 publications

Onion-Bulb Nerve Roots: An Imaging Clue to Charcot-Marie-Tooth Disease Type 1D.

Onion-Bulb Nerve Roots: An Imaging Clue to Charcot-Marie-Tooth Disease Type 1D.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: July 09, 2026

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

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

Journal: Neuropediatrics

Published: April 23, 2026

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Journal: Molecular genetics and metabolism

Published: March 16, 2026

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

Journal: American journal of human genetics

Published: February 26, 2026

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Journal: Molecular genetics and metabolism

Published: December 16, 2025

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Journal: Molecular genetics and metabolism

Published: December 05, 2025

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Journal: Molecular genetics and metabolism

Published: November 13, 2025

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.

Journal: Cell communication and signaling : CCS

Published: October 13, 2025

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Journal: Molecular genetics and metabolism

Published: September 25, 2025

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

Journal: Pediatric neurology

Published: August 27, 2025

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: August 27, 2025

Plasma neurofilament light chain in pediatric hereditary spastic paraplegia.

Plasma neurofilament light chain in pediatric hereditary spastic paraplegia.

Journal: Journal of the neurological sciences

Published: August 21, 2025

Showing 1-12 of 129

Last Updated: 09/26/2026