Vincenzo Lupo

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

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

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

Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena et al. · Glia · 2013 · 46 citations · Full text

Peripheral Nerves, Cellular Neurobiology, Synaptic Signaling +18