Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (9)

2023

  1. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

2022

  1. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain

    Neurologia, Vol. 37, Núm. 4, pp. 257-262

2021

  1. Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

    Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

2011

  1. Cerebrotendinous xanthomatosis in Spain: Clinical, prognostic, and genetic survey

    European Journal of Neurology, Vol. 18, Núm. 10, pp. 1203-1211

2009

  1. Two-stage case-control association study of dopamine-related genes and migraine

    BMC Medical Genetics, Vol. 10, pp. 95

2006

  1. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

    Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503

2005

  1. Autosomal dominant congenital fibre type disproportion: A clinicopathological and imaging study of a large family

    Brain, Vol. 128, Núm. 7, pp. 1716-1727