Roger Vilchez
Valencia, VC, Spain
Last Updated: 09/26/2026
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Found 11 publications
Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.
Journal: Journal of neurology
Published: February 08, 2026
Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies.
Journal: European journal of neurology
Published: July 03, 2025
Asymptomatic HyperCKemia in the Pediatric Population: A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests.
Journal: Neurology
Published: December 12, 2024
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
Journal: Neuropathology and applied neurobiology
Published: November 02, 2024
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Journal: Journal of neurology
Published: July 10, 2024
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Journal: European journal of neurology
Published: March 22, 2024
Alterations in Mitochondrial Oxidative Phosphorylation System: Relationship of Complex V and Cardiac Dysfunction in Human Heart Failure.
Journal: Antioxidants (Basel, Switzerland)
Published: February 06, 2024
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Journal: Neuropathology and applied neurobiology
Published: January 13, 2022
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Journal: Annals of neurology
Published: October 22, 2021
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Journal: European journal of neurology
Published: June 23, 2020
Clinical spectrum of BICD2 mutations.
Journal: European journal of neurology
Published: October 16, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026