Publikationen in Zusammenarbeit mit Forschern von Hospital Universitari de Bellvitge (10)

2023

  1. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

2022

  1. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

    Journal of Neurology, Vol. 269, Núm. 7, pp. 3550-3562

2021

  1. A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey

    Neurology and Therapy, Vol. 10, Núm. 2, pp. 833-845

2020

  1. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

    Medicina Clinica, Vol. 154, Núm. 3, pp. 80-85

2019

  1. Late-onset thymidine kinase 2 deficiency: A review of 18 cases

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585

2017

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

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

    Neuromuscular Disorders, Vol. 26, Núm. 1, pp. 33-40

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

  2. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

    Neuromuscular Disorders, Vol. 25, Núm. 7, pp. 548-553