ENFERMEDADES NEUROMUSCULARES
King's College London
Londres, Reino UnidoPublikationen in Zusammenarbeit mit Forschern von King's College London (14)
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
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
2018
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Increased Levels of Brain Adrenomedullin in the Neuropathology of Alzheimer’s Disease
Molecular Neurobiology, Vol. 55, Núm. 6, pp. 5177-5183
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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
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Soxf factors regulate murine satellite cell self-renewal and function through inhibition of β-catenin activity
eLife, Vol. 7
2017
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FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway
Expert Reviews in Molecular Medicine, Vol. 19
2016
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Gene expression profiling of muscle stem cells identifies novel regulators of postnatal myogenesis
Frontiers in Cell and Developmental Biology, Vol. 4, Núm. JUN
2015
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Alterations in brain leptin signalling in spite of unchanged CSF leptin levels in Alzheimer's disease
Aging Cell, Vol. 14, Núm. 1, pp. 122-129
2010
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Altered NCAM expression associated with the cholinergic system in alzheimer's disease
Journal of Alzheimer's Disease, Vol. 20, Núm. 2, pp. 659-668
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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
1999
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Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism
American Journal of Human Genetics, Vol. 65, Núm. 5, pp. 1437-1448