Concepedia

Rafael Sivera

RS

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Publications

16

Citations

689

H-Index

13

Active since

2010

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Centro de Investigación Biomédica en Red

Centre for Biomedical Network Research on Rare Diseases

Universitat de València

Biomedical Research Networking Center on Neurodegenerative Diseases

Rafael Sivera is an author at Hospital Universitari i Politècnic La Fe specializing in medicine, neurology, and neuropathology.

ORCID

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Publications per year

2010–2023

16

Publications

16

Charcot-Marie-Tooth disease

Rafael Sivera, Teresa Sevilla, Juan J. Vílchez et al. · Neurology · 2013 · 128 citations · Full text

Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease

Teresa Sevilla, Vincenzo Lupo, Dolores Martínez‐Rubio et al. · Brain · 2015 · 98 citations · Full text

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

Marina Frasquet, Ricard Rojas‐García, Herminia Argente‐Escrig et al. · European Journal of Neurology · 2020 · 67 citations

Phenotypical features of the p.R120W mutation in the <i>GDAP1</i> gene causing autosomal dominant Charcot‐Marie‐Tooth disease

Rafael Sivera, Carmen Espinós, Juan J. Vílchez et al. · Journal of the Peripheral Nervous System · 2010 · 63 citations · Full text

Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease

David Pla‐Martín, Eduardo Calpena, Vincenzo Lupo et al. · Human Molecular Genetics · 2014 · 53 citations · Full text

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