Publicaciones en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (12)

2024

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

    Genetics in Medicine, Vol. 26, Núm. 6

2022

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

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

2019

  1. 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

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

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

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

    Movement Disorders

2013

  1. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262

2012

  1. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

    Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250

2003

  1. A clinical longitudinal study of multiple sclerosis in Cantabria, Spain

    Neurologia, Vol. 18, Núm. 10, pp. 723-730

1999

  1. The challenge of drug-induced aseptic meningitis

    Archives of Internal Medicine, Vol. 159, Núm. 11, pp. 1185-1194

1998

  1. The distinctive headache of the occipital condyle syndrome: A report of four cases

    Headache, Vol. 38, Núm. 4, pp. 308-311

1997

  1. Escritura con letras en espejo bimanual: A proposito de un caso postraumatico

    Neurologia, Vol. 12, Núm. 9, pp. 418-420

1996

  1. Cough headache

    Headache Quarterly, Vol. 7, Núm. 3, pp. 201-206