Publicacións en colaboración con investigadores/as de Klinikum der Universität München (6)

2022

  1. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

    Movement Disorders, Vol. 37, Núm. 6, pp. 1175-1186

2021

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

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

2019

  1. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

    Nature Genetics, Vol. 51, Núm. 5, pp. 804-814

  2. Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2016

  1. Genome-wide associations for birth weight and correlations with adult disease

    Nature, Vol. 538, Núm. 7624, pp. 248-252

2015

  1. Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

    PLoS Genetics, Vol. 11, Núm. 7