Marina Frasquet

6PUBLICATIONS
16CO-AUTHORS
Neurology and neuromuscular diseasesOrganic chemistry not elsewhere classifiedComparative language studiesMedical genetics (excl. cancer genetics)
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Publications (6)

|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

|Nov 05, 2020
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.

Nuria Muelas, Marina Frasquet, Fernando Más-Estellés

|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

5 joint publications

Juan Francisco Vázquez-Costa

5 joint publications

Carmen Espinós

5 joint publications

Vincenzo Lupo

5 joint publications

Teresa Sevilla