Paula Sancho

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

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

Vincenzo Lupo, Francisco García‐García, Paula Sancho et al. · Journal of Molecular Diagnostics · 2016 · 44 citations · Full text

Mendelian Disorder, Genetic Disorder, Charcot-marie-tooth Disease +11

Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations

Paula Sancho, Luca Bartesaghi, Olivia Miossec et al. · Human Molecular Genetics · 2019 · 38 citations · Full text

Genetics, Morc2 Expression, Peripheral Nerves +22

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

Paula Sancho, Ana Sánchez‐Monteagudo, Antonio Collado et al. · Neurogenetics · 2017 · 34 citations · Full text

Rare Diseases, Mendelian Disorder, Neurological Disorder +10

Impaired proteasome activity and neurodegeneration with brain iron accumulation in <i>FBXO7</i> defect

Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó et al. · Annals of Clinical and Translational Neurology · 2020 · 25 citations · Full text