Publicacions en col·laboració amb investigadors/es de Emory University (9)

2021

  1. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

    JAMA Neurology, Vol. 78, Núm. 10, pp. 1236-1248

2016

  1. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    Nature Communications, Vol. 7

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

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

  4. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Nature Genetics, Vol. 48, Núm. 9, pp. 1037-1042

2015

  1. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Science, Vol. 347, Núm. 6229, pp. 1436-1441

2014

  1. 2-deoxy-2-[18F]fluoro-d-mannose positron emission tomography imaging in atherosclerosis

    Nature Medicine, Vol. 20, Núm. 2, pp. 215-219

  2. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

    Neuron, Vol. 84, Núm. 2, pp. 324-331

2008

  1. The antidepressant sertraline downregulates Akt and has activity against melanoma cells

    Pigment Cell and Melanoma Research, Vol. 21, Núm. 4, pp. 451-456