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Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)
Author / Creator:Hinarejos, Isabel ; Machuca, Candela ; Sancho, Paula ; Espinós, Carmen
Publisher:Basel: MDPI AG
Journal title:Antioxidants, 2020-10, Vol.9 (10), p.1020
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Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease
Author / Creator:Sánchez-Monteagudo, Ana ; Ripollés, Edna ; Berenguer, Marina ; Espinós, Carmen
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2021-08, Vol.9 (9), p.1100
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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
Author / Creator:Calpena, Eduardo ; Palau, Francesc ; Espinós, Carmen ; Galindo, Máximo Ibo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-07, Vol.10 (7), p.e0134106
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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Author / Creator:Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Sancho, Paula ; Gorría-Redondo, Nerea ; Bernadó-Fonz, Raquel ; Tello, Cristina ; Marco-Marín, Clara ; Martí-Carrera, Itxaso ; Martínez-González, María Jesús ; García-Ribes, Ainhoa ; Baviera-Muñoz, Raquel ; Sastre-Bataller, Isabel ; Martínez-Torres, Irene ; Duat-Rodríguez, Anna ; Janeiro, Patrícia ; Moreno, Esther ; Pías-Peleteiro, Leticia ; Gordo, Mar O’Callaghan ; Ruiz-Gómez, Ángeles ; Muñoz, Esteban ; Martí, Maria Josep ; Sánchez-Monteagudo, Ana ; Fuster, Candela ; Andrés-Bordería, Amparo ; Pons, Roser Maria ; Jesús-Maestre, Silvia ; Mir, Pablo ; Lupo, Vincenzo ; Pérez-Dueñas, Belén ; Darling, Alejandra ; Aguilera-Albesa, Sergio ; Espinós, Carmen
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-10, Vol.23 (19), p.11847
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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Author / Creator: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. ; Martinez‐Vicente, Marta ; Pérez‐Dueñas, Belén ; Espinós, Carmen
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-08, Vol.7 (8), p.1436-1442
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New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition
Author / Creator:Calpena, Eduardo ; Deshpande, Anup Arunrao ; Yap, Sufin ; Kumar, Akhilesh ; Manning, Nigel J. ; Bachhawat, Anand K. ; Espinós, Carmen
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2015-03, Vol.174 (3), p.407-411
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Audiological Findings in Charcot–Marie–Tooth Disease Type 4C
Author / Creator:Sivera, Rafael ; Cavalle, Laura ; Vílchez, Juan J. ; Espinós, Carmen ; Pérez-Garrigues, Herminio ; Sevilla, Teresa
Publisher:Turkey: AVES Yayincilik A.S
Journal title:The journal of international advanced otology, 2017-04, Vol.13 (1), p.93-99
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Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity
Author / Creator:García-Villarreal, Luis ; Hernández-Ortega, Andrea ; Sánchez-Monteagudo, Ana ; Peña-Quintana, Luis ; Ramírez-Lorenzo, Teresa ; Riaño, Marta ; Moreno-Pérez, Raquel ; Monescillo, Alberto ; González-Santana, Daniel ; Quiñones, Ildefonso ; Sánchez-Villegas, Almudena ; Olmo-Quintana, Vicente ; Garay-Sánchez, Paloma ; Espinós, Carmen ; González, Jesús M. ; Tugores, Antonio
Publisher:Singapore: Springer Singapore
Journal title:Journal of gastroenterology, 2021-01, Vol.56 (1), p.78-89
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Novel human pathological mutations
Author / Creator:Martínez-Rubio, Dolores ; Millán, José M. ; Palau, Francesc ; Espinós, Carmen
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2009-04, Vol.125 (3), p.353-353
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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
Author / Creator:de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Lupo, Vincenzo ; Bermejo-Guerrero, Laura ; Martín-Jiménez, Paloma ; Hernández-Laín, Aurelio ; Olivé, Montse ; Gallardo, Eduard ; Esteban-Pérez, Jesús ; Espinós, Carmen ; Domínguez-González, Cristina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2024-02, Vol.271 (2), p.986-994
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Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
Author / Creator:Espinós, Carmen ; Galindo, Máximo Ibo ; García-Gimeno, María Adelaida ; Ibáñez-Cabellos, José Santiago ; Martínez-Rubio, Dolores ; Millán, José María ; Rodrigo, Regina ; Sanz, Pascual ; Seco-Cervera, Marta ; Sevilla, Teresa ; Tapia, Andrea ; Pallardó, Federico V.
Publisher:Switzerland: MDPI AG
Journal title:Antioxidants, 2020-04, Vol.9 (4), p.313
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Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension
Author / Creator:Pousada, Guillermo ; Lupo, Vincenzo ; Cástro-Sánchez, Sheila ; Álvarez-Satta, María ; Sánchez-Monteagudo, Ana ; Baloira, Adolfo ; Espinós, Carmen ; Valverde, Diana
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-05, Vol.7 (1), p.1923-19, Article 1923
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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
Author / Creator:Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Argente-Escrig, Herminia ; Marco-Marín, Clara ; Lozano, María Ana ; Gorría-Redondo, Nerea ; Lupo, Vincenzo ; Martí-Carrera, Itxaso ; Miranda, Concepción ; Vázquez-López, María ; García-Pérez, Asunción ; Marco-Hernández, Ana Victoria ; Tomás-Vila, Miguel ; Aguilera-Albesa, Sergio ; Espinós, Carmen
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-11, Vol.24 (22), p.16400
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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
Author / Creator:Calpena, Eduardo ; López del Amo, Víctor ; Chakraborty, Mouli ; Llamusí, Beatriz ; Artero, Rubén ; Espinós, Carmen ; Galindo, Máximo I.
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2018-01, Vol.11 (1)
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Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Author / Creator:Sancho, Paula ; Andrés-Bordería, Amparo ; Gorría-Redondo, Nerea ; Llano, Katia ; Martínez-Rubio, Dolores ; Yoldi-Petri, María Eugenia ; Blumkin, Luba ; Rodríguez de la Fuente, Pablo ; Gil-Ortiz, Fernando ; Fernández-Murga, Leonor ; Sánchez-Monteagudo, Ana ; Lupo, Vincenzo ; Pérez-Dueñas, Belén ; Espinós, Carmen ; Aguilera-Albesa, Sergio
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-03, Vol.22 (5), p.2505
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A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment
Author / Creator:Penning, Louis C. ; Berenguer, Marina ; Czlonkowska, Anna ; Double, Kay L. ; Dusek, Petr ; Espinós, Carmen ; Lutsenko, Svetlana ; Medici, Valentina ; Papenthin, Wiebke ; Stremmel, Wolfgang ; Willemse, Jose ; Weiskirchen, Ralf
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2023-02, Vol.11 (2), p.420
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Ancient origin of the CAG expansion causing Huntington disease in a Spanish population
Author / Creator:García-Planells, Javier ; Burguera, Juan A. ; Solís, Pilar ; Millán, José M. ; Ginestar, Damián ; Palau, Francesc ; Espinós, Carmen
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-05, Vol.25 (5), p.453-459
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A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
Author / Creator:Sancho, Paula ; Sánchez-Monteagudo, Ana ; Collado, Antonio ; Marco-Marín, Clara ; Domínguez-González, Cristina ; Camacho, Ana ; Knecht, Erwin ; Espinós, Carmen ; Lupo, Vincenzo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2017-12, Vol.18 (4), p.245-250
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Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Author / Creator: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 Francisco ; Espinós, Carmen ; Sevilla, Teresa
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-12, Vol.55 (12), p.814-823
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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Author / Creator:Argente‐Escrig, Herminia ; Frasquet, Marina ; Vázquez‐Costa, Juan Francisco ; Millet‐Sancho, Elvira ; Pitarch, Inmaculada ; Tomás‐Vila, Miguel ; Espinós, Carmen ; Lupo, Vincenzo ; Sevilla, Teresa
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2021-09, Vol.8 (9), p.1809-1816
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Showing 1 to 20 of 35 results

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

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

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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

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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

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

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New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

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Audiological Findings in Charcot–Marie–Tooth Disease Type 4C

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Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity

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Novel human pathological mutations

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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

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Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

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

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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

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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

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

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A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment

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Ancient origin of the CAG expansion causing Huntington disease in a Spanish population

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A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

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Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

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

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