1. A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy. (10th April 2022) Authors: Argente‐Escrig, Herminia; Vílchez, Juan J.; Frasquet, Marina; Muelas, Nuria; Azorín, Inmaculada; Vílchez, Roger; Millet‐Sancho, Elvira; Pitarch, Inmaculada; Tomás‐Vila, Miguel; Vázquez‐Costa, Juan F.; Mas‐Estellés, Fernando; Marco‐Marín, Clara; Espinós, Carmen; Serrano‐Lorenzo, Pablo; Martin, Mig... Journal: Neuropathology & applied neurobiology Issue: Volume 48:Number 5(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations. Issue 12 (10th November 2018) Authors: Lupo, Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana Lara; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, María Dolores; Chumillas, María José; Vílchez, Juan Jesús; Vázquez-Costa, Juan... Journal: Journal of medical genetics Issue: Volume 55:Issue 12(2018) Page Start: 814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations. (8th January 2019) Authors: Sancho, Paula; Bartesaghi, Luca; Miossec, Olivia; García-García, Francisco; Ramírez-Jiménez, Laura; Siddell, Anna; Åkesson, Elisabet; Hedlund, Eva; Laššuthová, Petra; Pascual-Pascual, Samuel I; Sevilla, Teresa; Kennerson, Marina; Lupo, Vincenzo; Chrast, Roman; Espinós, Carmen Journal: Human molecular genetics Issue: Volume 28:Number 10(2019) Page Start: 1629 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Charcot–Marie–Tooth disease due to MORC2 mutations in Spain. (18th July 2021) Authors: Sivera, Rafael; Lupo, Vincenzo; Frasquet, Marina; Argente‐Escrig, Herminia; Alonso‐Pérez, Jorge; Díaz‐Manera, Jordi; Querol, Luis; del Mar García‐Romero, María; Ignacio Pascual, Samuel; García‐Sobrino, Tania; Paradas, Carmen; Francisco Vázquez‐Costa, Juan; Muelas, Nuria; Millet, Elvira; Jesús Víl... Journal: European journal of neurology Issue: Volume 28:Number 9(2021) Page Start: 3001 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study. Issue 11 (28th August 2017) Authors: Darling, Alejandra; Tello, Cristina; Martí, María Josep; Garrido, Cristina; Aguilera‐Albesa, Sergio; Tomás Vila, Miguel; Gastón, Itziar; Madruga, Marcos; González Gutiérrez, Luis; Ramos Lizana, Julio; Pujol, Montserrat; Gavilán Iglesias, Tania; Tustin, Kylee; Lin, Jean Pierre; Zorzi, Giovanna; Na... Journal: Movement disorders Issue: Volume 32:Issue 11(2017) Page Start: 1620 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation. (October 2015) Authors: Lupo, Vincenzo; Pascual-Pascual, Samuel I.; Sancho, Paula; Calpena, Eduardo; Gutiérrez-Molina, Manuel; Mateo-Martínez, Gonzalo; Espinós, Carmen; Arriola-Pereda, Gema Journal: Journal of child neurology Issue: Volume 30:Number 11(2015:Oct.) Page Start: 1544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 39, Issue 3. Issue 3 (8th February 2018) Authors: Abbott, Jamie A.; Meyer‐Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel‐Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinós, Carmen... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation. (10th January 2021) Authors: Frasquet, Marina; Rojas‐García, Ricard; Argente‐Escrig, Herminia; Vázquez‐Costa, Juan Francisco; Muelas, Nuria; Vílchez, Juan Jesús; Sivera, Rafael; Millet, Elvira; Barreiro, Marisa; Díaz‐Manera, Jordi; Turon‐Sans, Janina; Cortés‐Vicente, Elena; Querol, Luis; Ramírez‐Jiménez, Laura; Martínez‐Rubi... Journal: European journal of neurology Issue: Volume 28:Number 4(2021) Page Start: 1334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain. Issue 5 (17th February 2020) Authors: Sánchez‐Monteagudo, Ana; Álvarez‐Sauco, María; Sastre, Isabel; Martínez‐Torres, Irene; Lupo, Vincenzo; Berenguer, Marina; Espinós, Carmen Journal: Clinical genetics Issue: Volume 97:Issue 5(2020) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect. Issue 8 (6th August 2020) Authors: Correa‐Vela, Marta; Lupo, Vincenzo; Montpeyó, Marta; Sancho, Paula; Marcé‐Grau, Anna; Hernández‐Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernández‐Rodríguez, Sandra; Tello, Cristina; Ramírez‐Jiménez, Laura; Pérez, Belén; Sánchez‐Montáñez, Ángel; Macaya, Alfons; Sobrido, María J.; Martine... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 8(2020) Page Start: 1436 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗