Neurozientziak
Saila
Columbia University Medical Center
Nueva York, Estados UnidosColumbia University Medical Center-ko ikertzaileekin lankidetzan egindako argitalpenak (13)
2022
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111
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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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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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R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils
Acta Neuropathologica, Vol. 142, Núm. 3, pp. 475-494
2020
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Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1816-1830
2018
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Aβ 1–42 triggers the generation of a retrograde signaling complex from sentinel mRNAs in axons
EMBO Reports, Vol. 19, Núm. 7
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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
2017
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Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry
Movement Disorders, Vol. 32, Núm. 10, pp. 1432-1438
2016
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Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
Autophagy
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Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease
Movement Disorders, Vol. 31, Núm. 8, pp. 1192-1202
2015
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Are symptom features of depression during pregnancy, the postpartum period and outside the peripartum period distinct? Results from a nationally representative sample using item response theory (IRT)
Depression and Anxiety, Vol. 32, Núm. 2, pp. 129-140
2014
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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
Nature Genetics, Vol. 46, Núm. 9, pp. 989-993
2013
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The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism
Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406