Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (18)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2023

  1. Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

    European Journal of Neurology, Vol. 30, Núm. 4, pp. 861-871

  2. Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

    Movement Disorders Clinical Practice, Vol. 10, Núm. 11, pp. 1671-1679

  3. Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study

    The Lancet Neurology, Vol. 22, Núm. 12, pp. 1150-1159

2022

  1. Hereditary spastic paraplegia type 4: Description of a family with a new pathogenic SPAST gene variant, c.1156A > C (p.Asn386His)

    Neurology Perspectives, Vol. 2, Núm. 1, pp. 53-55

2020

  1. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

    Neuron, Vol. 107, Núm. 2, pp. 292-305.e6

  2. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

    Cell Reports, Vol. 31, Núm. 5

2019

  1. PDGF-BB serum levels are decreased in adult onset Pompe patients

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

2017

  1. An ontology-aware integration of clinical models, terminologies and guidelines: An exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)

    BMC Medical Informatics and Decision Making, Vol. 17, Núm. 1

  2. La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte»

    Neurologia

  3. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

    Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672

2015

  1. Myasthenia gravis: Descriptive analysis of life-threatening events in a recent nationwide registry

    European Journal of Neurology, Vol. 22, Núm. 7, pp. 1056-1061

2013

  1. Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

    Human Mutation, Vol. 34, Núm. 1, pp. 79-82

  2. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435

2010

  1. Association study of the serotoninergic system in migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 1, pp. 177-184

2009

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

    BMC Medical Genetics, Vol. 10, pp. 95