Publicacions en col·laboració amb investigadors/es de Children's Hospital of Philadelphia (12)

2022

  1. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs

    Human Brain Mapping, Vol. 43, Núm. 1, pp. 300-328

2021

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

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

2020

  1. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

    The Lancet Neurology, Vol. 19, Núm. 3, pp. 234-246

  2. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

2018

  1. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

    Neurology, Vol. 91, Núm. 22, pp. e2078-e2088

2017

  1. DNM1 encephalopathy

    Neurology, Vol. 89, Núm. 4, pp. 385-394

2016

  1. Coxsackievirus adenovirus receptor loss impairs adult neurogenesis, synapse content, and hippocampus plasticity

    Journal of Neuroscience, Vol. 36, Núm. 37, pp. 9558-9571

  2. 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

  3. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

    Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 511-522

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

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

2015

  1. De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    Nature Genetics, Vol. 47, Núm. 4, pp. 393-399

1995

  1. Frequent Expression of a Mutant Epidermal Growth Factor Receptor in Multiple Human Tumors

    Cancer Research, Vol. 55, Núm. 23, pp. 5536-5539