Publicacións nas que colabora con Susana Teijeira Bautista (13)

2024

  1. Correlating Histopathological Microscopic Images of Creutzfeldt–Jakob Disease with Clinical Typology Using Graph Theory and Artificial Intelligence

    Machine Learning and Knowledge Extraction, Vol. 6, Núm. 3, pp. 2018-2032

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. 349

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

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

2007

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

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