[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 ...
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 ...
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 ...
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 ...
Muñoz-Lasso, Diana C.; Mollá, Belén; Sáenz-Gamboa, Jhon J.; Insuasty, Edwin; de la Iglesia-Vaya, María; Pook, Mark A.; Pallardó, Federico V.; Palau, Francesc; González-Cabo, Pilar(Frontiers Media SA, 2022-06-13)
[EN] Computational techniques for analyzing biological images offer a great potential to enhance our knowledge of the biological processes underlying disorders of the nervous system. Friedreich¿s Ataxia (FRDA) is a rare ...
[EN] Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), ...
Lupo,Vincenzo; Galindo, Máximo Ibo; Martínez-Rubio, Dolores; Sevilla, Teresa; Vílchez, Juan José; Palau, Francesc; Espinós-Armero, Carmen Ángeles(Oxford University Press, 2009-12-01)
[EN]
Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. Here we demonstrate that the SH3TC2 protein is present ...
Sevilla, Teresa; Lupo, Vincenzo; Martínez-Rubio, Dolores; Sancho, Paula; Sivera, Rafael; Chumillas, María J.; García-Romero, Mar; Pascual-Pascual, Samuel I.; Muelas, Nuria; Dopazo, Joaquín; Vílchez, Juan J.; Palau, Francesc; Espinós-Armero, Carmen Ángeles(Oxford University Press, 2016-01-01)
[EN] Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger ...
Espinós-Armero, Carmen Ángeles; Pineda, M.; Martínez-Rubio, D.; Aída Ormazabal; María Antonia Vilaseca; Leo J. M. Spaapen; Palau, Francesc; Rafael Artuch; Lupo,V(BMJ, 2009-06)
[EN] Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p. L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria ...
Sivera, Rafael; Espinós-Armero, Carmen Ángeles; Vílchez, Juan J.; Mas, Fernando; Martínez-Rubio, Dolores; Chumillas, María José; Mayordomo, Fernando; Muelas, Nuria; Bataller, Luis; Palau, Francesc; Sevilla, Teresa(Blackwell Publishing, 2010-12)
[EN] Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). Most of these mutations ...
Mollá, Belén; Muñoz-Lasso, Diana C.; Riveiro, Fátima; Bolinches-Amorós, Arantxa; Pallardó, Federico V.; Fernandez-Vilata, Angel; de la Iglesia-Vaya, María; Palau, Francesc; Gonzalez-Cabo, Pilar(Frontiers Media SA, 2017-08-30)
[EN] Friedreich's ataxia (FRDA) is a peripheral neuropathy involving a loss of proprioceptive sensory neurons. Studies of biopsies from patients suggest that axonal dysfunction precedes the death of proprioceptive neurons ...
Estelle Arnaud Gouttenoire; Lupo,V; Calpena-Corpas, Eduardo; Luca Bartesaghi; Fanny Schüpfer; Jean-Jacques Médard; Fabienne Maurer; Jacques S Beckmann; Jan Senderek; Palau, Francesc; Espinós-Armero, Carmen Ángeles; Roman Chrast(John Wiley & Sons, 2013-07)
[EN] Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral ...
Aller, Elena; Larrieu, Lise; Jaijo, Teresa; David Baux; Espinós-Armero, Carmen Ángeles; González-Candelas, Fernando; Nájera, Carmen; Palau, Francesc; Claustres, Mireille; Roux, Anne Françoise; Millán, José M.(Nature Publishing Group, 2010-07)
[EN]
Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of ...
Sevilla, Teresa; Jaijo, Teresa; Nauffal, Dolores; Collado, Diego; Chumillas, María José; Vilchez, Juan J.; Muelas, Nuria; Bataller, Luis; Domènech, Rosalia; Espinós-Armero, Carmen Ángeles; Palau, Francesc(Oxford University Press, 2008-11)
[EN]
Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a characteristic feature. CMT disease due to mutations in the ...
Barberá Tomás, José David; Palau, Francesc; Villanueva-Felez, África; Richard Derle, Woolley(Rubes Editorial, S.L., 2014-06)
[ES] El origen de algunas mejoras (o innovaciones ocultas) en la práctica asistencial parece aconsejar paradigmas evaluativos más abiertos a aprehender las diversas, sutiles e indirectas vías potenciales de retorno asistencial ...