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Page 1
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorarù G; Italian Study Group on Kennedy's disease. Querin G, et al. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26. J Neurol Neurosurg Psychiatry. 2016. PMID: 26503015 Free PMC article.
Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.
Scaramuzzino C, Casci I, Parodi S, Lievens PMJ, Polanco MJ, Milioto C, Chivet M, Monaghan J, Mishra A, Badders N, Aggarwal T, Grunseich C, Sambataro F, Basso M, Fackelmayer FO, Taylor JP, Pandey UB, Pennuto M. Scaramuzzino C, et al. Neuron. 2015 Jan 7;85(1):88-100. doi: 10.1016/j.neuron.2014.12.031. Neuron. 2015. PMID: 25569348 Free PMC article.
Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet.
Rocchi A, Milioto C, Parodi S, Armirotti A, Borgia D, Pellegrini M, Urciuolo A, Molon S, Morbidoni V, Marabita M, Romanello V, Gatto P, Blaauw B, Bonaldo P, Sambataro F, Robins DM, Lieberman AP, Sorarù G, Vergani L, Sandri M, Pennuto M. Rocchi A, et al. Acta Neuropathol. 2016 Jul;132(1):127-44. doi: 10.1007/s00401-016-1550-4. Epub 2016 Mar 12. Acta Neuropathol. 2016. PMID: 26971100 Free PMC article.