Paul Sabatier University-ko ikertzaileekin lankidetzan egindako argitalpenak (19)

2023

  1. Acylation of glycerolipids in mycobacteria

    Nature Communications, Vol. 14, Núm. 1

2022

  1. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

    Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437

  2. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

2021

  1. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  2. Fluctuations in akt and pten activity are linked by the e3 ubiquitin ligase ccbl

    Cells, Vol. 10, Núm. 11

  3. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

  4. Molecular ruler mechanism and interfacial catalysis of the integral membrane acyltransferase PatA

    Science Advances, Vol. 7, Núm. 42

2020

  1. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Nature Communications, Vol. 11, Núm. 1

2019

  1. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

    The Lancet Neurology, Vol. 18, Núm. 12, pp. 1091-1102

  2. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

    npj Parkinson's Disease, Vol. 5, Núm. 1

  3. SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease

    Movement Disorders, Vol. 34, Núm. 9, pp. 1333-1344

2018

  1. The Molecular Mechanism of Substrate Recognition and Catalysis of the Membrane Acyltransferase PatA from Mycobacteria

    ACS Chemical Biology, Vol. 13, Núm. 1, pp. 131-140

2016

  1. 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

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  3. Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

    Pediatric Nephrology, Vol. 31, Núm. 10, pp. 1705-1708

2015

  1. Pharmacogenomic study in patients with multiple sclerosis Responders and nonresponders to IFN-β

    Neurology: Neuroimmunology and NeuroInflammation, Vol. 2, Núm. 5, pp. e154

2014

  1. 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

2011

  1. IL28B polymorphisms are not associated with the response to interferon-beta in multiple sclerosis

    Journal of Neuroimmunology, Vol. 239, Núm. 1-2, pp. 101-104

2009

  1. United Europeans for development of pharmacogenomics in multiple sclerosis network

    Pharmacogenomics, Vol. 10, Núm. 5, pp. 885-894