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Mostrando ítems 1-4 de 4

A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration

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 ...
Caracterización de un modificador genético de GDAP1, gen implicado en la neuropatía de Charcot-Marie-Tooth

Conejos Vila, José (Universitat Politècnica de València, 2014-09-24)

[EN] The Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy, shows a wide genetic heterogeneity with more than forty genes involved. The CMT forms due to mutations in the GDAP1 gene are the most ...
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 ...
Efecto del déficit de GDAP1 en motoneuronas aisladas de un modelo murino asociado a la neuropatía Charcot-Marie-Tooth

YNDRIAGO ACHA, LAURA (Universitat Politècnica de València, 2015-06-10)

[EN] Charcot-Marie-Tooth (CMT) is the most frequently inherited peripheral neuropathy with highly genetic and clinic heterogeneity. It is classified in two main groups: axonal and demyelinating, both been related with at ...

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