Publicaciones en las que colabora con Susana Teijeira Bautista (11)

2023

  1. Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family

    Journal of Clinical Medicine, Vol. 12, Núm. 17

2022

  1. Author Correction: Long COVID in hospitalized and non-hospitalized patients in a large cohort in Northwest Spain, a prospective cohort study (Scientific Reports, (2022), 12, 1, (3369), 10.1038/s41598-022-07414-x)

    Scientific Reports

  2. Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

    Journal of Neurology, Vol. 269, Núm. 8, pp. 4253-4263

2018

  1. Fabry disease in the Spanish population: Observational study with detection of 77 patients

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

2012

  1. Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 83, Núm. 3, pp. 322-328

2011

  1. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

    Neuromuscular Disorders, Vol. 21, Núm. 12, pp. 817-823

2010

  1. Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

  2. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

    Human Genetics

2009

  1. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

    Human genetics, Vol. 125, Núm. 3, pp. 335

  2. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

    Human genetics, Vol. 125, Núm. 3, pp. 349

  3. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

    Human genetics, Vol. 125, Núm. 3, pp. 339