Publications (37) Beatriz San Millan Tejado publications

2024

  1. 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

  3. Learning curve of thyroid fine-needle aspiration biopsy

    Endocrinologia, Diabetes y Nutricion, Vol. 64, Núm. 10, pp. 539-543