Lopez del Amo, V; Palomino-Schätzlein, Martina; Seco-Cervera, Marta; Garcia-Gimenez, José Luis; Pallardó-Calatayud, Federico V.; Pineda-Lucena, Antonio; Galindo-Orozco, Máximo Ibo(Elsevier, 2017)
[EN] Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 ...
Oral administration of camptothecin (Cm) derivatives and other antitumoral agents is being actively developed in order to improve the quality of life of patients with cancer. Though several lipophilic derivatives of CPT ...
[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 ...
Bleda, Marta; Tarraga, Joaquín; De María, Alejandro; Salavert, Francisco; García-Alonso, Luz; Celma Giménez, Matilde; Martín Mayordomo, Ainoha; Dopazo, Joaquín; Medina, Ignacio(Oxford University Press (OUP): Policy C - Option B, 2012-07)
During the past years, the advances in high-throughput technologies have produced an unprecedented growth in the number and size of repositories and databases storing relevant biological data. Today, there is more biological ...
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 ...
[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 ...
[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), ...
[EN] Huntington disease (HD) is a neurodegenerative disorder produced by an expansion of CAG repeats in the HTT gene. Patients of HD show involuntary movements, cognitive decline and psychiatric impairment. People carrying ...
Vela, Marta; García-Gimeno, María Adelaida; Sanchis, Ana; Bono-Yagüe, José; Cumella, José; Lagartera, Laura; Pérez, Concepción; Priego, Eva María; Campos, Angela; Sanz, Pascual; Vázquez-Manrique, Rafael P.; Castro, Ana(American Chemical Society, 2022-01-19)
[EN] Aggregation of mutant huntingtin, because of an expanded polyglutamine track, underlies the cause of neurodegeneration in Huntington disease (HD). However, it remains unclear how some alterations at the cellular level ...
[EN] Objective:
The aim of this study was to optimize a decellularization protocol in the trachea of Sus scrofa domestica (pig) as well as to study the effects of long-term cryopreservation on the extracellular matrix of ...
[EN] Background and purpose Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness ...