Rafael Sivera

Universidad CEU Cardenal Herrera Facultad de Ciencias de la Salud

Spain

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Articles (15)

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2025

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2022

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2022

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2021

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2021

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2021

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2021

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2020

Collaborators (3)

Irene Martinez-Torres

Head of the Movement Disorders Unit

Hospital Universitari i Politècnic La Fe

SPAIN

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Gerardo Gutiérrez-Gutiérrez

Professor

Universidad Europea de Madrid SLU

SPAIN

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Raquel Baviera Muñoz

Instituto de Investigación Sanitaria La Fe

SPAIN

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Rafael Sivera

Research Interests

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Articles (15)

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

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

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

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease

Insights into phenotypic variability caused by <i>GARS1</i> pathogenic variants

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

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

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings from an Observational Digital Lifestyle Study

Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study,Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España

Efficacy and tolerability of perampanel as a first add-on therapy with different anti-seizure drugs

Collaborators (3)

Irene Martinez-Torres

Gerardo Gutiérrez-Gutiérrez

Raquel Baviera Muñoz

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