Publicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (6)

2023

  1. Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

    Movement Disorders Clinical Practice, Vol. 10, Núm. 6, pp. 992-997

2021

  1. Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation

    Neurological Sciences, Vol. 42, Núm. 9, pp. 3647-3654

2017

  1. Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis

    Neurology, Vol. 88, Núm. 13, pp. 1235-1242

2015

  1. RhoE deficiency alters postnatal subventricular zone development and the number of calbindin-expressing neurons in the olfactory bulb of mouse

    Brain Structure and Function, Vol. 220, Núm. 6, pp. 3113-3130

2014

  1. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1143-1150

2013

  1. Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina

    Experimental Eye Research, Vol. 111, pp. 122-133