Publicaciones en colaboración con investigadores/as de Hospital Universitario Central de Asturias (51)

2024

  1. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

    Genetics in Medicine, Vol. 26, Núm. 6

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

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

2022

  1. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

  2. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

    Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 728-735

  3. Smoking is associated with age at disease onset in Parkinson's disease

    Parkinsonism & related disorders, Vol. 97, pp. 79-83

2021

  1. Cancer in Parkinson's Disease: An Approximation to the Main Risk Factors

    Neurodegenerative Diseases, Vol. 21, Núm. 1-2, pp. 36-41

  2. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

    Molecular Genetics and Metabolism Reports, Vol. 26

2020

  1. Cervical myelopathy as a form of presentation of Whipple disease

    Neurologia

  2. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Neurologia, Vol. 35, Núm. 3, pp. 185-206

2019

  1. HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease

    Neurobiology of Aging, Vol. 76, pp. 215.e9-215.e14

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

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

  3. 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

  4. Neuroinvasion of influenza A/H3N2: a fatal case in an immunocompetent adult

    Journal of NeuroVirology, Vol. 25, Núm. 2, pp. 275-279

  5. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  6. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2018

  1. Drug-induced aseptic meningitis and other mimics

    CNS Infections: A Clinical Approach: Second Edition (Springer International Publishing), pp. 275-300

  2. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

2017

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

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

  2. Sudden paraplegia after lumbar puncture as a clue in the diagnosis of a patient with spinal dural arteriovenous fistula

    European Spine Journal, Vol. 26, pp. 151-153

2016

  1. Description of a series of hospital patients with a spinal fistula

    Revista de Neurologia, Vol. 63, Núm. 7, pp. 303-308