Publicaciones en las que colabora con Beatriz San Millan Tejado (12)

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. 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

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

2018

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

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

2011

  1. CADASIL. Estudio neuropatológico de un caso

    Alzheimer: Realidades e investigación en demencia, Núm. 48, pp. 5-12

  2. 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

2009

  1. Myoadenylate deaminase deficiency: Clinico-pathological and molecular study of a series of 27 Spanish cases

    Clinical Neuropathology, Vol. 28, Núm. 2, pp. 136-142

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

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

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

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

2007

  1. Acute Necrotizing Encephalopathy of Childhood: Report of a Spanish Case

    Pediatric Neurology, Vol. 37, Núm. 6, pp. 438-441