Publicaciones en colaboración con investigadoras/es de Centro de Regulación Genómica (10)

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

2022

  1. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  2. Transcriptome analysis in LRRK2 and idiopathic Parkinson’s disease at different glucose levels

    npj Parkinson's Disease, Vol. 7, Núm. 1

2020

  1. Transcriptomic differences in MSA clinical variants

    Scientific Reports, Vol. 10, Núm. 1

2018

  1. MicroRNA alterations in iPSC-derived dopaminergic neurons from Parkinson disease patients

    Neurobiology of Aging, Vol. 69, pp. 283-291

2017

  1. GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence after Stroke

    Stroke, Vol. 48, Núm. 5, pp. 1147-1153

2013

  1. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs

    Human Mutation, Vol. 34, Núm. 10, pp. 1387-1395

  2. Targeting the endocannabinoid system in the treatment of fragile X syndrome

    Nature Medicine, Vol. 19, Núm. 5, pp. 603-607

2012

  1. Gene expression analysis of the embryonic subplate

    Cerebral Cortex, Vol. 22, Núm. 6, pp. 1343-1359