María A.
Pastor
Investigadora hasta 2021
Universitat Autònoma de Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (11)
2023
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Brainstem neuromelanin and iron MRI reveals a precise signature for idiopathic and LRRK2 Parkinson’s disease
npj Parkinson's Disease, Vol. 9, Núm. 1
2018
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Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
Neurobiology of Aging, Vol. 62, pp. 245.e1-245.e7
2017
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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487
2016
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A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
Acta Neuropathologica, Vol. 132, Núm. 2, pp. 213-224
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Assessing the role of TUBA4A gene in frontotemporal degeneration
Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14
2015
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Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: A European early-onset dementia consortium study
Neurobiology of Aging, Vol. 36, Núm. 5, pp. 2005.e15-2005.e22
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MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium
Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352
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Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort
Human Mutation, Vol. 36, Núm. 12, pp. 1226-1235
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TREM2 R47H variant and risk of essential tremor: A cross-sectional international multicenter study
Parkinsonism and Related Disorders, Vol. 21, Núm. 3, pp. 306-309
2014
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Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes
Neurobiology of Aging, Vol. 35, Núm. 11, pp. 2657.e13-2657.e19
2013
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Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans
Neurobiology of Aging, Vol. 34, Núm. 10, pp. 2441.e9-2441.e11