Mauro Monforte

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 97 publications

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Journal: Cell death & disease

Published: September 30, 2025

RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD.

RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD.

Journal: Journal of translational medicine

Published: September 15, 2025

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

Journal: Annals of clinical and translational neurology

Published: August 22, 2025

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement.

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement.

Journal: Journal of cachexia, sarcopenia and muscle

Published: July 11, 2025

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features.

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features.

Journal: European journal of neurology

Published: May 27, 2025

A novel stroke mimic prediction score during in-hospital triage for suspected stroke patients: The Stroke Mimics Score (SMS).

A novel stroke mimic prediction score during in-hospital triage for suspected stroke patients: The Stroke Mimics Score (SMS).

Journal: European stroke journal

Published: May 16, 2025

Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study.

Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study.

Journal: Journal of neurology

Published: November 26, 2024

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Journal: Neurology. Genetics

Published: November 26, 2024

Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.

Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.

Journal: Journal of cachexia, sarcopenia and muscle

Published: September 18, 2024

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.

Journal: Neurology

Published: August 05, 2024

Racial and ethnic differences in access to care and treatment in patients with suspected acute stroke: A retrospective, observational, cohort study.

Racial and ethnic differences in access to care and treatment in patients with suspected acute stroke: A retrospective, observational, cohort study.

Journal: Journal of the neurological sciences

Published: July 14, 2024

Automated pupillometry is a predictor of outcome of stroke patients: an observational, prospective, cohort study.

Automated pupillometry is a predictor of outcome of stroke patients: an observational, prospective, cohort study.

Journal: Brain communications

Published: July 08, 2024

Showing 1-12 of 97

Last Updated: 09/26/2026