Publications in collaboration with researchers from University of Sydney (9)

2021

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

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

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

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

2018

  1. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Neuron, Vol. 97, Núm. 6, pp. 1268-1283.e6

  2. Multi-modal imaging of long-term recovery post-stroke by positron emission tomography and matrix-assisted laser desorption/ionisation mass spectrometry

    Rapid Communications in Mass Spectrometry, Vol. 32, Núm. 9, pp. 721-729

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. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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

2014

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

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

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544