[EN] Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically ...
Hervás-Marín, David; Fornés-Ferrer, Victoria; Gómez-Escribano, Ana Pilar; Dolores Sequedo, Maria; Peiró, Carmen; Millán, José María; Vázquez-Manrique, Rafael P.(Public Library of Science, 2017-06-20)
[EN] Huntington's disease (HD) is an inherited, dominant neurodegenerative disorder caused by
an abnormal expansion of CAG triplets in the huntingtin gene (htt). Despite extensive efforts
to modify the progression of HD ...