Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (19)

2020

  1. 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

  2. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

    Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 643-646

2019

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

    Medicina Clinica, Vol. 153, Núm. 2, pp. 82.e1-82.e17

2015

  1. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

    Molecular Genetics and Metabolism, Vol. 114, Núm. 2, pp. 248-258

2012

  1. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy

    Journal of Neurology, Vol. 259, Núm. 8, pp. 1546-1552

  2. Guía clínica de la enfermedad de pompe de inicio tardío

    Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507

  3. Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

    Neuromuscular Disorders, Vol. 22, Núm. 3, pp. 231-243

2010

  1. Chemotherapy-induced peripheral neuropathy: Clinical features, diagnosis, prevention and treatment strategies

    Clinical and Translational Oncology, Vol. 12, Núm. 2, pp. 81-91

  2. Latency values of 248 H reflexes in 124 normal subjects

    Revista de Neurologia, Vol. 51, Núm. 10, pp. 589-591

  3. Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene

    Revista de Neurologia

2007

  1. Controversias éticas sobre la utilización de placebo como tratamiento control en los ensayos clínicos en neurología

    Neurologia, Vol. 22, Núm. 2, pp. 106-113

  2. Double trouble (McArdle's disease and myasthenia gravis): How can exercise help?

    Muscle and Nerve, Vol. 35, Núm. 1, pp. 125-128

2004

  1. Coenzyme Q 10 improves lactic acidosis, strokelike episodes, and epilepsy in a patient with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes)

    Clinical Neuropharmacology, Vol. 27, Núm. 4, pp. 187-191

2000

  1. Chronic paroxysmal hemicrania-tic syndrome

    Headache, Vol. 40, Núm. 8, pp. 682-685

1998

  1. Neuralgia amiotrofica: Revision de 37 casos

    Revista de Neurologia, Vol. 27, Núm. 159, pp. 823-826

1995

  1. Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA

    Acta Neurologica Scandinavica, Vol. 91, Núm. 1, pp. 62-65

1994

  1. Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA

    Journal of Inherited Metabolic Disease, Vol. 17, Núm. 5, pp. 634-635

1993

  1. Mitochondrial myopathies

    Anales de medicina interna (Madrid, Spain : 1984), Vol. 10 Suppl, pp. 21-27

  2. Respiratory chain enzyme activities in lymphocytes from untreated patients with Parkinson disease

    Clinical Chemistry, Vol. 39, Núm. 4, pp. 667-669