Rosa Campopiano

Is
Pozzilli, 86077, Italy

Last Updated: 09/26/2026

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Found 22 publications

Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.

Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.

Journal: Genes

Published: May 27, 2026

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

Journal: Journal of medical genetics

Published: March 25, 2025

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Journal: Frontiers in neurology

Published: September 19, 2023

Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.

Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.

Journal: Frontiers in neurology

Published: August 28, 2023

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

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

Published: March 09, 2023

Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans.

Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans.

Journal: The Journal of biological chemistry

Published: March 01, 2023

C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.

C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.

Journal: Frontiers in aging neuroscience

Published: March 29, 2022

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).

Journal: Clinical genetics

Published: February 11, 2022

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Journal: Genes

Published: April 19, 2021

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.

Journal: Frontiers in genetics

Published: March 17, 2021

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.

Journal: BMC neurology

Published: March 19, 2020

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.

Journal: Frontiers in neurology

Published: June 07, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026