Lea Leonardis

Lea Leonardis

Ljubljana, Slovenia

Last Updated: 09/26/2026

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Found 37 publications

MyomiR Networks in Spinal Muscular Atrophy: Associations With Clinical Severity and Treatment Response.

MyomiR Networks in Spinal Muscular Atrophy: Associations With Clinical Severity and Treatment Response.

Journal: Molecular neurobiology

Published: January 28, 2026

Risdiplam treatment in adults with spinal muscular atrophy: a single-center, real-world study.

Risdiplam treatment in adults with spinal muscular atrophy: a single-center, real-world study.

Journal: BMC neurology

Published: October 31, 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

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Journal: Genes

Published: July 30, 2025

Sensory nerve action potential reappearance after omaveloxolone treatment in patients with Friedreich ataxia.

Sensory nerve action potential reappearance after omaveloxolone treatment in patients with Friedreich ataxia.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: July 01, 2025

Correction: Shaky hands are a part of motor neuron disease phenotype: clinical and electrophysiological study of 77 patients.

Correction: Shaky hands are a part of motor neuron disease phenotype: clinical and electrophysiological study of 77 patients.

Journal: Journal of neurology

Published: January 23, 2025

Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy.

Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy.

Journal: Cellular and molecular neurobiology

Published: July 12, 2024

The endocrine manifestations of adults with spinal muscular atrophy.

The endocrine manifestations of adults with spinal muscular atrophy.

Journal: Muscle & nerve

Published: April 07, 2024

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.

Journal: Genes

Published: October 18, 2023

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

Journal: Journal of neuromuscular diseases

Published: November 14, 2022

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.

Journal: Balkan journal of medical genetics : BJMG

Published: October 17, 2022

Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience.

Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience.

Journal: Radiology and oncology

Published: April 19, 2022

Showing 1-12 of 37

Last Updated: 09/26/2026