Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?Key points

by Carmen Espinós, Peter Ferenci
Published 2020-08-01

Chaperonopathies: spotlight on hereditary motor neuropathies

by Vincenzo Lupo, Vincenzo Lupo, Carmen Aguado, Carmen Aguado, Carmen Aguado, Erwin Knecht, Erwin Knecht, Erwin Knecht, Carmen Espinós, Carmen Espinós
Published 2016-12-01

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

by Isabel Hinarejos, Candela Machuca-Arellano, Paula Sancho, Carmen Espinós
Published 2020-10-01

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species.

by Eduardo Calpena, Francesc Palau, Carmen Espinós, Máximo Ibo Galindo
Published 2015-01-01

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

by Ana Sánchez-Monteagudo, Edna Ripollés, Marina Berenguer, Carmen Espinós
Published 2021-08-01

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

by Eduardo Calpena, Víctor López del Amo, Mouli Chakraborty, Beatriz Llamusí, Rubén Artero, Carmen Espinós, Máximo I. Galindo
Published 2018-01-01

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

by Guillermo Pousada, Vincenzo Lupo, Sheila Cástro-Sánchez, María Álvarez-Satta, Ana Sánchez-Monteagudo, Adolfo Baloira, Carmen Espinós, Diana Valverde
Published 2017-05-01

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center

by Herminia Argente‐Escrig, Marina Frasquet, Juan Francisco Vázquez‐Costa, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla
Published 2021-09-01

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

by Candela Machuca, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amorós, Ana Artero Castro, Carmen Espinos, Marian Leon, Pavla Jendelova, Slaven Erceg
Published 2018-12-01

Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients

by Candela Machuca, Marta Correa-Vela, Deyanira García-Navas, Alejandra Darling, Irene Villalón-García, José Antonio Sánchez-Alcázar, Belén Pérez-Dueñas, Slaven Erceg, Carmen Espinós
Published 2021-05-01

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

by Candela Machuca Arellano, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amorós, Ana Artero Castro, Carmen Espinos, Marian Leon Rodriguez, Pavla Jendelova, Slaven Erceg
Published 2018-08-01

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

by Carmen Espinós, Máximo Ibo Galindo, María Adelaida García-Gimeno, José Santiago Ibáñez-Cabellos, Dolores Martínez-Rubio, José María Millán, Regina Rodrigo, Pascual Sanz, Marta Seco-Cervera, Teresa Sevilla, Andrea Tapia, Federico V. Pallardó
Published 2020-04-01

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

by Beatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, Fulvio Santacatterina, María A Alberti, Carolina Simó, Carlos Casasnovas, Celedonio Márquez-Infante, Teresa Sevilla, Samuel I Pascual, María Sánchez-Aragó, Carmen Espinos, Francesc Palau, José M Cuezva
Published 2017-01-01

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

by Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé‐Grau, Jorge Hernández‐Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández‐Rodríguez, Cristina Tello, Laura Ramírez‐Jiménez, Belén Pérez, Ángel Sánchez‐Montáñez, Alfons Macaya, María J. Sobrido, Marta Martinez‐Vicente, Belén Pérez‐Dueñas, Carmen Espinós
Published 2020-08-01

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

by Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga, Ana Sánchez-Monteagudo, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós, Sergio Aguilera-Albesa
Published 2021-03-01

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

by Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla
Published 2017-07-01