Publicacións nas que colabora con Susana Teijeira Bautista (13)
2024
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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
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Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family
Journal of Clinical Medicine, Vol. 12, Núm. 17
2022
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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
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Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
Neuron, Vol. 107, Núm. 2, pp. 292-305.e6
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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Cell Reports, Vol. 31, Núm. 5
2018
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Fabry disease in the Spanish population: Observational study with detection of 77 patients
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
2011
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CADASIL. Estudio neuropatológico de un caso
Alzheimer: Realidades e investigación en demencia, Núm. 48, pp. 5-12
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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
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Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II
Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3
2009
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Myoadenylate deaminase deficiency: Clinico-pathological and molecular study of a series of 27 Spanish cases
Clinical Neuropathology, Vol. 28, Núm. 2, pp. 136-142
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 339
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 349
2007
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Acute Necrotizing Encephalopathy of Childhood: Report of a Spanish Case
Pediatric Neurology, Vol. 37, Núm. 6, pp. 438-441