Dolores Martínez‐Rubio

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

Rare Diseases, Morc2 P.s25l Mutation, Mendelian Disorder +14

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

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

Vincenzo Lupo, Máximo Ibo Galindo, Dolores Martínez‐Rubio et al. · Human Molecular Genetics · 2009 · 59 citations · Full text

Genetics, Molecular Biology, Cytoskeleton +18