Neurociencias
Harvard Medical School
Boston, Estados UnidosPublicacions en col·laboració amb investigadors/es de Harvard Medical School (8)
2024
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898
2023
2021
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
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Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use
European Respiratory Journal, Vol. 57, Núm. 5
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Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration
Neuropathology and Applied Neurobiology, Vol. 47, Núm. 7, pp. 1092-1108
2020
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
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Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1802-1815
2010
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
Nature Genetics, Vol. 42, Núm. 3, pp. 234-239