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Browsing by Author "Espinós Armero, Carmen Ángeles"

Now showing items 1-20 of 37

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency

Fernández-Burriel, Miguel; Martínez-Rubio, Dolores; Lupo,Vincenzo; Pérez-Colosía, Víctor; Piñán López, Esther; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Nature Publishing Group, 2008-09)

[EN] Ataxia with isolated vitamin E deficiency is a rare autosomal recessive neurodegenerative disease due to mutations in the a-tocopherol transfer protein gene. In ataxia with isolated vitamin E deficiency, the biochemical ...
Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib

Espinós-Armero, Carmen Ángeles; Millán, Jose M.; Sánchez, F.; Beneyto, M.; Nájera, C. (Springer-Verlag, 1998-06)

[EN] In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor ...
Ancient origin of the CAG expansion causing Huntingtons disease in a Spanish population.

García-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar Peiro, Damián; Palau, Francesc; Espinós-Armero, Carmen Ángeles (John Wiley & Sons, 2005-05)

[EN] Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal ...
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

Lupo, Vincenzo; García-García, Francisco; Sancho, Paula; Tello, Cristina; García-Romero, Mar; Villarreal, Liliana; Alberti, Antonia; Sivera, Rafael; Pascual-Pascual, Samuel I.; Márquez-Infante, Celedonio; Casasnovas, Carlos; Sevilla, Teresa; Espinós-Armero, Carmen Ángeles (Elsevier, 2016-03)

[EN] Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the ...
Association of the 3467C>T mutation (T1156M) in the von Willebrands factor gene with dominant type 1 von Willebrands disease

Casaña-Gargallo, María Pilar; Francisco Martínez; Saturnino Haya; Espinós-Armero, Carmen Ángeles; José Antonio Aznar (Springer-Verlag, 2001-07)

[EN] Type I is the most frequent form of von Willebrand's disease, which is characterized by a quantitative partial deficiency of von Willebrand's factor. At present, only two mutations located in the D3 domain (C1149R, ...
Bases genéticas de ataxias y paraparesias espásticas

Martín Ruiz, Eduardo (Universitat Politècnica de València, 2021-07-29)

[ES] Las ataxias constituyen un grupo de enfermedades neurológicas caracterizadas por una amplia expresividad variable y una gran heterogeneidad genética que conllevan, entre otros, el deterioro de la capacidad de coordinación ...
Bases genéticas de las ataxias. Análisis de mutaciones de splicing en ATM

Vázquez Calvo, Claudia (Universitat Politècnica de València, 2019-09-09)

[ES] Las ataxias cerebelosas son un grupo heterogéneo de enfermedades del sistema nervioso central de carácter progresivo debidas a un proceso degenerativo que afecta a sistemas neuronales selectivos del cerebelo y sus ...
Bases moleculares de la enfermedad de Wilson y enfermedades Wilson-like

Vidal Garcia, Clara (Universitat Politècnica de València, 2022-07-07)

[ES] La enfermedad de Wilson (EW) es un trastorno hereditario autosómico recesivo, con una prevalencia de 1/30.000, causado por mutaciones en ATP7B. Este gen codifica para una ATPasa transportadora de cobre, con expresión ...
Caracterización de genes y mutaciones de trastornos del movimiento

López Nieto, Marta (Universitat Politècnica de València, 2024-07-25)

[ES] Las enfermedades raras (EERR) se definen en la Unión Europea como aquéllas que afectan a 1 persona de cada 2.000. Aunque una enfermedad rara afecta a muy pocos pacientes, se conocen más de 7.000 condiciones, por lo ...
Caracterización de las bases genéticas de ataxias hereditarias

Bustos Martínez, Isabel (Universitat Politècnica de València, 2020-07-11)

[ES] Las ataxias hereditarias constituyen un grupo heterogéneo de trastornos del movimiento caracterizados principalmente por una afectación progresiva en la estabilidad de la marcha y la coordinación asociada a degeneración ...
Caracterización de las bases moleculares de la neuropatía de Charcot-Marie-Tooth mediante secuenciación de exoma. Análisis de patogenicidad de variantes

Collado Padilla, Antonio (Universitat Politècnica de València, 2017-09-06)

[ES] La enfermedad de Charcot-Marie-Tooth (CMT) se caracteriza por una amplia heterogeneidad genética con más de 80 genes implicados. Ésta se divide principalmente en dos grandes grupos en función de estudios electrofisiológicos ...
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

Sancho, Paula; Bartesaghi, Luca; Miossec, Olivia; García-García, Francisco; Ramírez-Jiménez, Laura; Siddell, Anna; Ajkesson, Elisabet; Hedlund, Eva; Lassuthova, Petra; Pascual-Pascual, Samuel I.; Sevilla, Teresa; Kennerson, Marina; Lupo, Vincenzo; Chrast, Roman; Espinós-Armero, Carmen Ángeles (Oxford University Press, 2019-05-15)

[EN] Mutations in MORC2 lead to an axonal form of Charcot-Marie-Tooth (CMT) neuropathy type 2Z. To date, 31 families have been described with mutations in MORC2, indicating that this gene is frequently involved in axonal ...
Characterizing the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

Lupo,Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vilchez, Juan J.; Vázquez-Costa, Juan Francisco; Espinós-Armero, Carmen Ángeles; Sevilla, Teresa (BMJ, 2018-12)

[EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other ...
Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

Sivera, Rafael; Sevilla, T.; Vílchez, Juan Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vázquez, Juan Francisco; Muelas, Nuria; Bataller, Luis; Millán, José María; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Ovid Technologies (Wolters Kluwer) - American Academy of Neurology, 2013-10-29)

[EN] Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A ...
Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

Pineda, Merce; Montero, Raquel; Aracil, Asunción; O'Callaghan, Mar M.; Mas, Ana; Espinós-Armero, Carmen Ángeles; Martínez-Rubio, Dolores; Palau, Francesc; Navas, Placido; Briones, Paz; Artuch, Rafael (John Wiley & Sons, 2010-07-15)

[EN] We assessed the clinical outcome after coenzyme Q(10) (CoQ(10)) therapy in 14 patients presenting ataxia classified into two groups according to CoQ(10) values in muscle (deficient or not). We performed an open-label ...
Complejidad de las bases genéticas de los trastornos NBIA

Guillot Fernández, Marina (Universitat Politècnica de València, 2019-10-07)

[ES] Las ENACH o NBIA (Neurodegeneration with Brain Iron Accumulation) comprenden un grupo heterogéneo de enfermedades hereditarias que suelen presentar depósitos de hierro en el cerebro, principalmente en los ganglios ...
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4

Capilla, A.; Donat, E.; Planelles, D.; Espinós-Armero, Carmen Ángeles; Ribes-Koninckx, C.; Palau, F. (Blackwell Publishing, 2007-10)

[EN] Genetic predisposition to celiac disease (CD) is determined primarily by the human leukocyte antigen (HLA) genes (CELIAC1 region; 6p21), although many loci are involved in disease susceptibility. First, we have analysed ...
Genetic epidemiology of the Charcot-Marie-Tooth in the Spanish Gypsy population: the Hereditary Motor and Sensory Neuropathy type Russe in depth

Sevilla, T.; Martínez-Rubio, D.; Márquez, C.; Paradas, C.; Colomer, J.; Jaijo, T.; Millán, JM; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2013-06)

[EN] Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT ...
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Claramunt, R.; Pedrola, L.; Sevilla, T.; López de Munaín, A.; Berciano, J.; Cuesta, A.; Sánchez-Navarro, B.; Millán, J. M.; Saifi, G.M.; Lupski, J.R.; Vilchez, J.J.; Espinós-Armero, Carmen Ángeles; Palau, F. (BMJ, 2005-04)
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain

Sánchez-Monteagudo, Ana; Álvarez-Sauco, María; Sastre, Isabel; Martínez-Torres, Irene; Lupo,Vincenzo; Berenguer, Marina; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2020-05)

[EN] Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to ...