Rosanna Trovato

Via Dei Giacinti 2
Pisa, 56128, Italy

Last Updated: 09/26/2026

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Found 31 publications

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

Journal: Journal of neurology

Published: June 15, 2026

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

A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic Movements.

A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic Movements.

Journal: American journal of medical genetics. Part A

Published: August 30, 2025

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.

Journal: Journal of neurology

Published: August 02, 2025

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 25, 2025

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study.

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study.

Journal: Genes

Published: January 15, 2025

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Journal: Clinical genetics

Published: December 29, 2024

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Journal: Genes

Published: October 29, 2024

Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2024

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.

Journal: Journal of the neurological sciences

Published: February 03, 2024

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

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

Published: January 16, 2024

A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.

A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.

Journal: International journal of molecular sciences

Published: June 30, 2023

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Last Updated: 09/26/2026