ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
IRAKASLE ELKARTUA
University of Milan
Milán, ItaliaUniversity of Milan-ko ikertzaileekin lankidetzan egindako argitalpenak (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
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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Movement Disorders, Vol. 39, Núm. 1, pp. 209-214
2023
2022
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
2021
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A multicentre validation study of the diagnostic value of plasma neurofilament light
Nature Communications, Vol. 12, Núm. 1
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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
2020
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Brain, Vol. 143, Núm. 9, pp. 2696-2708
2018
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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
The Lancet Neurology, Vol. 17, Núm. 6, pp. 548-558