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Acta Neuropathologica Communications|February 28, 2019
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathologyH Jürgen Wenzel, Karl D Murray, Saif N Haify, et al.
Plos Genetics|November 15, 2008
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determinationRandell T Libby, Katharine A Hagerman, Victor V Pineda, et al.
Acta Neuropathologica|May 5, 2018
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patientsCraig L Bennett, Somasish G Dastidar, Shuo-Chien Ling, et al.
Cell Reports|January 31, 2019
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial DiseaseJacqueline M Ward, Colleen A Stoyas, Pawel M Switonski, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 22, 2002
Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic miceGwenn A Garden, Randell T Libby, Ying-Hui Fu, et al.
Neuron|July 13, 2010
Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration mice reveals a role for Nna proteins in neuronal bioenergeticsLisa Chakrabarti, Rabaab Zahra, Stephen M Jackson, et al.
Cell Metabolism|October 9, 2014
Let-7 coordinately suppresses components of the amino acid sensing pathway to repress mTORC1 and induce autophagyAmy N Dubinsky, Somasish Ghosh Dastidar, Cynthia L Hsu, et al.
Nature Medicine|March 6, 2018
Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophyNisha M Badders, Ane Korff, Helen C Miranda, et al.
Nature Medicine|December 8, 2015
PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeuticallyAudrey S Dickey, Victor V Pineda, Taiji Tsunemi, et al.
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