Vincenzo Lupo

7PUBLICATIONS
20CO-AUTHORS
CrystallographyNeurology and neuromuscular diseasesOrganic chemistry not elsewhere classifiedMedical genetics (excl. cancer genetics)Medical infection agents (incl. prions)
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Publications (7)

|Sep 17, 2024
ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

Javier Cabello-Murgui, Jesús Jiménez-Jiménez, Juan J Vílchez

|Mar 28, 2022
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.

Herminia Argente-Escrig, Juan J Vílchez, Marina Frasquet

|Jun 30, 2021
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.

Rafael Sivera, Vincenzo Lupo, Marina Frasquet

|Dec 28, 2020
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.

Marina Frasquet, Ricard Rojas-García, Herminia Argente-Escrig

|Sep 08, 2020
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

V Lupo, S Won, M Frasquet

|Feb 15, 2020
Clinical spectrum of BICD2 mutations.

M Frasquet, A Camacho, R Vílchez

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Frequent Collaborators

6 joint publications

Teresa Sevilla

5 joint publications

Marina Frasquet

5 joint publications

Carmen Espinós

4 joint publications

Juan Francisco Vázquez-Costa