Carmen Espinós (C Espinós)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 26

Top Venues

Biomedicines

European journal of neurology

Neurology. Genetics

Neurology

Fundación de la Comunidad Valenciana Centro de Investigación Príncipe Felipe

Universitat de València (PHD)

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

Affiliation History

Fundación de la Comunidad Valenciana Centro de Investigación Príncipe Felipe

Spain

Group Leader :: Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Education History

Universitat de València

Spain

PHD :: Department of Genetics

Publications

Rafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, Cristina Domínguez-González, Alejandro Horga, Francisco J Rodriguez De Rivera, Elena Gallardo, Jose Ignacio Tembl, Laura Bermejo-Guerrero, Maria Inmaculada Pagola Lorz, Inmaculada Azorín, Marta Cordoba, María Del Mar Fenollar-Cortés, Elvira Millet, Juan Jesus Vilchez, Carmen Espinós, María Apellániz-Ruiz, Teresa Sevilla
Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease. Neurology 102 (7) (2024)
Ana Sánchez-Monteagudo, Edna Ripollés, Oihana Murillo, Sofia Domènech, María Álvarez-Sauco, Eva Girona, Isabel Sastre-Bataller, Ariadna Bono, Luis García-Villarreal, Antonio Tugores, Francisco García-García, Gloria González-Aseguinolaza, Marina Berenguer, Carmen Espinós
Profile of plasma microRNAs as a potential biomarker of Wilson's disease. Journal of gastroenterology (2024)
Ana Sánchez-Monteagudo, Edna Ripollés, Oihana Murillo, Sofia Domènech, María Álvarez-Sauco, Eva Girona, Isabel Sastre-Bataller, Ariadna Bono, Luis García-Villarreal, Antonio Tugores, Francisco García-García, Gloria González-Aseguinolaza, Marina Berenguer, Carmen Espinós
Profile of plasma microRNAs as a potential biomarker of Wilson's disease. Journal of gastroenterology (2024)
Rafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, Cristina Domínguez-González, Alejandro Horga, Francisco J Rodriguez De Rivera, Elena Gallardo, Jose Ignacio Tembl, Laura Bermejo-Guerrero, Maria Inmaculada Pagola Lorz, Inmaculada Azorín, Marta Cordoba, María Del Mar Fenollar-Cortés, Elvira Millet, Juan Jesus Vilchez, Carmen Espinós, María Apellániz-Ruiz, Teresa Sevilla
Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease. Neurology 102 (7) (2024)
Rafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, Cristina Domínguez-González, Alejandro Horga, Francisco J Rodriguez De Rivera, Elena Gallardo, Jose Ignacio Tembl, Laura Bermejo-Guerrero, Maria Inmaculada Pagola Lorz, Inmaculada Azorín, Marta Cordoba, María Del Mar Fenollar-Cortés, Elvira Millet, Juan Jesus Vilchez, Carmen Espinós, María Apellániz-Ruiz, Teresa Sevilla
Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease. Neurology 102 (7) (2024)
Louis C Penning, Marina C Berenguer, Anna Czlonkowska, Kay L Double, Petr Dušek, Carmen Espinós, Svetlana Lutsenko, Valentina Medici, Wiebke Papenthin, Wolfgang Stremmel, Jose Willemse, Ralf Weiskirchen
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment. Biomedicines 11 (2) (2023)
Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marin, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espinós
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 24 (22) (2023)
Louis C Penning, Marina C Berenguer, Anna Czlonkowska, Kay L Double, Petr Dušek, Carmen Espinós, Svetlana Lutsenko, Valentina Medici, Wiebke Papenthin, Wolfgang Stremmel, Jose Willemse, Ralf Weiskirchen
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment. Biomedicines 11 (2) (2023)
Louis C Penning, Marina C Berenguer, Anna Czlonkowska, Kay L Double, Petr Dušek, Carmen Espinós, Svetlana Lutsenko, Valentina Medici, Wiebke Papenthin, Wolfgang Stremmel, Jose Willemse, Ralf Weiskirchen
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment. Biomedicines 11 (2) (2023)
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J Vilchez, Teresa Jaijo, Carmen Espinós, Jose M Millán, Luis Bataller, Elena Aller
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 8 (6) (2022)
Dolores Martínez-Rubio, Ángela Rodríguez-Prieto, Paula Sancho, Carmen Navarro-González, Nerea Gorría-Redondo, Javier Miquel-Leal, Clara Marco-Marín, Alison Jenkins, Mario Soriano-Navarro, Alberto Hernández, Belén Pérez-Dueñas, Pietro Fazzari, Sergio Aguilera-Albesa, Carmen Espinós
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3. Human molecular genetics 31 (22) (2022)
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)
Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O'Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias. International journal of molecular sciences 23 (19) (2022)
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J Vilchez, Teresa Jaijo, Carmen Espinós, Jose M Millán, Luis Bataller, Elena Aller
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 8 (6) (2022)
Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism. Neurology. Genetics 7 (1) (2021)
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)
Raquel Baviera-Muñoz, Dolores Martínez-Rubio, Isabel Sastre-Bataller, Marina Campins-Romeu, Mireya Losada-López, Julia Pérez-García, Edurne Novella-Maestre, Irene Martínez-Torres, Carmen Espinós
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism. Neurology. Genetics 7 (6) (2021)
Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga, Ana Sánchez-Monteagudo, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós, Sergio Aguilera-Albesa
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. International journal of molecular sciences 22 (5) (2021)
Ana Sánchez-Monteagudo, Edna Ripollés, Marina C Berenguer, Carmen Espinós
Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease. Biomedicines 9 (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)
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)
Ana Sánchez-Monteagudo, María Álvarez-Sauco, Isabel Sastre, Irene Martínez-Torres, Vincenzo Lupo, Marina Berenguer, Carmen Espinós
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain. Clinical genetics 97 (5) (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)
Isabel Hinarejos, Candela Machuca-Arellano, Paula Sancho, Carmen Espinós
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA). Antioxidants (Basel, Switzerland) 9 (10) (2020)
Eduardo Calpena, Víctor López Del Amo, Mouli Chakraborty, Beatriz Llamusí, Rubén Artero, Carmen Espinós, Maximo-Ibo Galindo
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway. Disease models & mechanisms 11 (1) (2018)
Paula Sancho, Ana Sánchez-Monteagudo, Antonio Collado, Clara Marco-Marín, Cristina Domínguez-González, Ana Camacho, Erwin Knecht, Carmen Espinós, Vincenzo Lupo
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. Neurogenetics 18 (4) (2017)

Carmen Espinós.css-eqlu8i{font-size:small;padding-left:4px;} (C Espinós)

Publication Activity (10 Years)

Top Topics

Top Venues

Carmen Espinós (C Espinós)