SARA
ORTEGA CUBERO
Profesor Asociado
Albert
Lladó Plarrumaní
Publicaciones en las que colabora con Albert Lladó Plarrumaní (12)
2021
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SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration
Brain, Vol. 144, Núm. 9, pp. 2798-2811
2019
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Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings
Journal of Neurology, Vol. 266, Núm. 10, pp. 2396-2405
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
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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Human Mutation, Vol. 38, Núm. 3, pp. 297-309
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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Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
Brain
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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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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
2014
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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
Human Molecular Genetics, Vol. 23, Núm. 3, pp. 749-754
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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
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410