Isabella L. Simone

Bari, 70124, Italy

Last Updated: 09/26/2026

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Found 77 publications

Longitudinal Transcriptomic Analysis Reveals Systemic Effects of Risdiplam in Adults with Spinal Muscular Atrophy.

Longitudinal Transcriptomic Analysis Reveals Systemic Effects of Risdiplam in Adults with Spinal Muscular Atrophy.

Journal: Brain sciences
Published: May 10, 2026

An early Transcriptomic Investigation in Adult Patients with Spinal Muscular Atrophy Under Treatment with Nusinersen.

An early Transcriptomic Investigation in Adult Patients with Spinal Muscular Atrophy Under Treatment with Nusinersen.

Journal: Journal of molecular neuroscience : MN
Published: April 27, 2024

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.

Journal: Neuromuscular disorders : NMD
Published: September 03, 2023

Acoustic Voice Analysis as a Useful Tool to Discriminate Different ALS Phenotypes.

Acoustic Voice Analysis as a Useful Tool to Discriminate Different ALS Phenotypes.

Journal: Biomedicines
Published: July 29, 2023

Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.

Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.

Journal: Muscle & nerve
Published: April 17, 2023

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.

Journal: Biomedicines
Published: December 30, 2022

Clinical Profiles and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis: A Cluster-Based Approach Based on MR Imaging Metrics.

Clinical Profiles and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis: A Cluster-Based Approach Based on MR Imaging Metrics.

Journal: AJNR. American journal of neuroradiology
Published: September 20, 2022

Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.

Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.

Journal: European journal of neurology
Published: July 07, 2022

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.

Journal: Neurology
Published: July 01, 2022

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: March 25, 2022

Medulla oblongata volume as a promising predictor of survival in amyotrophic lateral sclerosis.

Medulla oblongata volume as a promising predictor of survival in amyotrophic lateral sclerosis.

Journal: NeuroImage. Clinical
Published: October 11, 2021

Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.

Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.

Journal: Genes
Published: October 01, 2021
Showing 1-12 of 77

Last Updated: 09/26/2026