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Paola Ruffo

6PUBLICATIONS

9CO-AUTHORS

Respiratory diseasesNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Medical molecular engineering of nucleic acids and proteinsAutonomic nervous system

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Publications (6)

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|Dec 11, 2025

A Novel <i>VPS13A</i> Deletion in <i>VPS13A</i> Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.

Benedetta Perrone, Viviana Mosca, Martina Pecoraro

|Oct 29, 2025

The Other Side of the Same Coin: Beyond the Coding Region in Amyotrophic Lateral Sclerosis.

Paola Ruffo, Benedetta Perrone, Francesco Perrone

|Feb 26, 2025

Advancements in genetic research and RNA therapy strategies for amyotrophic lateral sclerosis (ALS): current progress and future prospects.

Paola Ruffo, Bryan J Traynor, Francesca Luisa Conforti

|Apr 26, 2024

Investigating Repeat Expansions in <i>NIPA1</i>, <i>NOP56</i>, and <i>NOTCH2NLC</i> Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy.

Paola Ruffo, Francesca De Amicis, Vincenzo La Bella

|May 28, 2022

The Advent of Omics Sciences in Clinical Trials of Motor Neuron Diseases.

Paola Ruffo, Sebastiano Cavallaro, Francesca Luisa Conforti

|Mar 25, 2022

<i>SOD-1</i> Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Paola Ruffo, Benedetta Perrone, Francesca Luisa Conforti

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Frequent Collaborators

5 joint publications

Francesca Luisa Conforti

3 joint publications

Benedetta Perrone

2 joint publications

Francesca De Amicis

2 joint publications

Vincenzo La Bella

1 joint publications

Sebastiano Cavallaro

1 joint publications

Cecilia Bucci

1 joint publications

Angela Messina

1 joint publications

Viviana Mosca

1 joint publications

Martina Pecoraro

Frequent Collaborators

5 joint publications

Francesca Luisa Conforti

3 joint publications

Benedetta Perrone

2 joint publications

Francesca De Amicis

2 joint publications

Vincenzo La Bella

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