Marina Frasquet (M Frasquet)

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 6

Top Topics

Antiretroviral Therapy

Fluorescence Imaging

Intellectual Disability

Top Venues

European journal of neurology

Neuropathology and applied neurobiology

This page only lists publications with an associated author ORCID identifier.

Publications

Herminia Argente-Escrig, Juan Jesus Vilchez, Marina Frasquet, Nuria Muelas, Inmaculada Azorín, Roger Vílchez, Elvira Millet-Sancho, Inmaculada Pitarch, Miguel Tomás-Vila, Juan Francisco Vázquez Costa, Fernando Mas-Estellés, Clara Marco-Marín, Carmen Espinós, Pablo Serrano-Lorenzo, Miguel A Martin, Vincenzo Lupo, Teresa Sevilla
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy. Neuropathology and applied neurobiology 48 (5) (2022)
Rafael Sivera, Vincenzo Lupo, Marina Frasquet, Herminia Argente-Escrig, Jorge Alonso-Pérez, Jordi Díaz-Manera, Luis Querol, María Del Mar García-Romero, Samuel Ignacio Pascual, Tania García-Sobrino, Carmen Paradas, Juan Francisco Vázquez Costa, Nuria Muelas, Elvira Millet, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. European journal of neurology 28 (9) (2021)
Marina Frasquet, Ricardo Rojas-García, Herminia Argente-Escrig, Juan Francisco Vázquez Costa, Nuria Muelas, Juan Jesus Vilchez, Rafael Sivera, Elvira Millet, Marisa Barreiro, Jordi Díaz-Manera, Janina Turon-Sans, Elena Cortés-Vicente, Luis Antonio Querol-Gutiérrez, Laura Ramírez-Jiménez, Dolores Martínez-Rubio, Ana Sánchez-Monteagudo, Carmen Espinós, Teresa Sevilla, Vincenzo Lupo
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. European journal of neurology 28 (4) (2021)
Nuria Muelas, Marina Frasquet, Fernando Más-Estellés, Pilar Martí, Laura Martínez-Vicente, Teresa Sevilla, Inmaculada Azorín, Javier Poyatos-García, Herminia Argente-Escrig, Roger Vílchez, Juan Francisco Vázquez Costa, Luis Bataller, Juan J Vilchez
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging. European journal of neurology 28 (4) (2020)
Vincenzo Lupo, S Won, Marina Frasquet, M S Schnitzler, Sneha Sudha Komath, S I Pascual-Pascual, Carmen Espinós, John Svaren, Teresa Sevilla
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex. European journal of neurology 27 (12) (2020)
Marina Frasquet, A Camacho, R Vílchez, H Argente-Escrig, E Millet, Juan Francisco Vázquez Costa, R Silla, A Sánchez-Monteagudo, J J Vílchez, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla
Clinical spectrum of BICD2 mutations. European journal of neurology 27 (7) (2020)