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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 ...
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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