Rafael Sivera

Moncada, VC, Spain

Last Updated: 09/26/2026

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Found 27 publications

Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study.

Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study.

Journal: Journal of neurology
Published: April 22, 2026

Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.

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

Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia.

Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia.

Journal: Scientific reports
Published: February 03, 2026

Teaching Video NeuroImage: Upper Eyelid Nystagmus as a Manifestation of Wernicke Encephalopathy.

Teaching Video NeuroImage: Upper Eyelid Nystagmus as a Manifestation of Wernicke Encephalopathy.

Journal: Neurology
Published: October 16, 2025

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Journal: European journal of neurology
Published: September 23, 2025

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies.

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies.

Journal: European journal of neurology
Published: July 03, 2025

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

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.

Insights into phenotypic variability caused by GARS1 pathogenic variants.

Journal: European journal of neurology
Published: March 22, 2024

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

Journal: Neurology
Published: March 21, 2024

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

Journal: European journal of neurology
Published: February 29, 2024

Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.

Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.

Journal: Transplant infectious disease : an official journal of the Transplantation Society
Published: April 16, 2023

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Journal: Movement disorders clinical practice
Published: December 28, 2022
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Last Updated: 09/26/2026