Publications (38) Beatriz San Millan Tejado publications

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

  2. Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression

    International Journal of Molecular Sciences, Vol. 25, Núm. 11

2023

  1. A murine model of BSCL2-associated Celia's encephalopathy

    Neurobiology of Disease, Vol. 187

  2. Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  3. 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

  2. Predictores de malignidad de los nódulos tiroideos

    Investigación: cultura, ciencia y tecnología, Núm. 28, pp. 22-29

2021

  1. Análisis del porcentaje de citologías no diagnósticas durante el aprendizaje de la técnica de punción aspiración con aguja fina de tiroides

    Investigación: cultura, ciencia y tecnología, Núm. 25, pp. 8-11

  2. Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene

    Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989

  3. Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A

    Molecular Therapy - Methods and Clinical Development, Vol. 20, pp. 1-17

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

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

  3. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  4. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  5. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

    Cell Reports, Vol. 31, Núm. 5

2019

  1. Influencia del patólogo que analiza la muestra en el riesgo estimado de malignidad de las citologías tiroideas con atipia de significado indeterminado

    Investigación: cultura, ciencia y tecnología, Núm. 22, pp. 20-25

2018

  1. Behavioural variant of frontotemporal dementia as the presenting symptom of corticobasal degeneration

    Revista de Neurologia, Vol. 67, Núm. 11, pp. 436-440

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

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

2017

  1. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

    Neurogenetics, Vol. 18, Núm. 1, pp. 63-67

  2. Dolor muscular en una mujer de 46 años

    Revista Española de Casos Clínicos en Medicina Interna (RECCMI), Vol. 2, Núm. 1, pp. 30-33