Institut d'Investigacions Biomèdiques August Pi i Sunyer-ko ikertzaileekin lankidetzan egindako argitalpenak (6)

2021

  1. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

    Brain, Vol. 144, Núm. 9, pp. 2798-2811

2017

  1. 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

2015

  1. 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

  2. Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

    Human Molecular Genetics, Vol. 24, Núm. 20, pp. 5677-5686

  3. 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

  1. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

    Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410