Jorge A. Bevilacqua

Avenida Dr. Carlos Lorca Tobar 999
Santiago, RM 8380453, Chile

Last Updated: 09/26/2026

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Found 40 publications

Visual mapping of muscle MRI fatty replacement patterns in genetic myopathies using dimensionality reduction.

Visual mapping of muscle MRI fatty replacement patterns in genetic myopathies using dimensionality reduction.

Journal: Neuromuscular disorders : NMD

Published: March 04, 2026

Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework.

Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework.

Journal: Neuromuscular disorders : NMD

Published: February 06, 2026

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Journal: Human mutation

Published: January 25, 2026

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

Expert Consensus Recommendations for the Diagnosis of Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN) in Chile

Expert Consensus Recommendations for the Diagnosis of Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN) in Chile

Journal: Revista medica de Chile

Published: June 03, 2025

The synaptic availability of GluA1 is reduced in hippocampal neurons of a murine model of dynamin-2 linked autosomal dominant centronuclear myopathy.

The synaptic availability of GluA1 is reduced in hippocampal neurons of a murine model of dynamin-2 linked autosomal dominant centronuclear myopathy.

Journal: Science progress

Published: April 02, 2025

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

Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.

Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.

Journal: Frontiers in genetics

Published: August 07, 2024

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology

Published: February 13, 2024

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology

Published: May 06, 2023

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Journal: Neurology. Genetics

Published: March 01, 2023

Showing 1-12 of 40

Last Updated: 09/26/2026