Publications (47)

2022

  1. Erratum: Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models (iScience (2021) 24(12), (S2589004221014346), (10.1016/j.isci.2021.103463))

    iScience

  2. Pridopidine Promotes Synaptogenesis and Reduces Spatial Memory Deficits in the Alzheimer’s Disease APP/PS1 Mouse Model

    Neurotherapeutics, Vol. 19, Núm. 5, pp. 1566-1587

2021

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

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

  2. Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models

    iScience, Vol. 24, Núm. 12

2019

  1. Uses for humanised mouse models in precision medicine for neurodegenerative disease

    Mammalian Genome, Vol. 30, Núm. 7-8, pp. 173-191

  2. Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis

    DMM Disease Models and Mechanisms, Vol. 12, Núm. 1

  3. Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities

    Disease models & mechanisms, Vol. 12, Núm. 2

  4. Inhibition of the mTOR pathway: A new mechanism of β cell toxicity induced by tacrolimus

    American Journal of Transplantation, Vol. 19, Núm. 12, pp. 3240-3249

  5. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

    Blood, Vol. 134, Núm. 3, pp. 277-290

2018

  1. Skeletal Muscle Modulates Huntington’s Disease Pathogenesis in Mice: Role of Physical Exercise

    Journal of Experimental Neuroscience

  2. TDP-43 mutations increase HNRNP A1-7B through gain of splicing function

    Brain

  3. Pramipexole reduces soluble mutant huntingtin and protects striatal neurons through dopamine D3 receptors in a genetic model of Huntington's disease

    Experimental Neurology, Vol. 299, pp. 137-147

  4. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

    EMBO Journal, Vol. 37, Núm. 11

  5. A genetic modifier suggests that endurance exercise exacerbates Huntington's disease

    Human Molecular Genetics, Vol. 27, Núm. 10, pp. 1723-1731

2017

  1. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice

    Brain, Vol. 140, Núm. 11, pp. 2797-2805

2016

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

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

  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. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

    American Journal of Human Genetics, Vol. 98, Núm. 6, pp. 1249-1255

  4. Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

    Human Molecular Genetics, Vol. 25, Núm. 2, pp. 291-307

  5. Analysis of individual mouse activity in group housed animals of different inbred strains using a novel automated home cage analysis system

    Frontiers in Behavioral Neuroscience, Vol. 10, Núm. JUN