Publicacións (36) Publicacións de Susana Teijeira Bautista

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. 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

2021

  1. Clear cell clusters in the kidney: a rare finding that should not be misdiagnosed as renal cell carcinoma

    Virchows Archiv, Vol. 479, Núm. 1, pp. 57-67

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

  3. Muscle weakness: Understanding the principles of myopathy and neuropathy in the critically ill patient and the management options

    Clinical Nutrition, Vol. 39, Núm. 5, pp. 1331-1344

2018

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

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

2016

  1. Spinal muscular atrophy with respiratory distress type 1 (SMARD1): Report of a Spanish case with extended clinicopathological follow-up

    Clinical Neuropathology, Vol. 35, Núm. 2, pp. 58-65

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. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262

  2. CADASIL. Estudio neuropatológico de un caso

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

  3. Chloroquine-induced myopathy

    Lupus

  4. 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

  5. Shrinking lung syndrome caused by lupus myopathy

    QJM, Vol. 104, Núm. 3, pp. 259-262

2010

  1. Characterisation of Lafora-like bodies and other polyglucosan bodies in two aged dogs with neurological disease

    Veterinary Journal, Vol. 183, Núm. 2, pp. 222-225

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

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

  3. Histopathology of skin in fabry disease

    Fabry Disease (Springer Netherlands), pp. 275-292

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

    Human Genetics