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RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS.
Spence H, Waldron FM, Saleeb RS, Brown AL, Rifai OM, Gilodi M, Read F, Roberts K, Milne G, Wilkinson D, O'Shaughnessy J, Pastore A, Fratta P, Shneider N, Tartaglia GG, Zacco E, Horrocks MH, Gregory JM. Spence H, et al. Among authors: fratta p. Acta Neuropathol. 2024 Mar 5;147(1):50. doi: 10.1007/s00401-024-02705-1. Acta Neuropathol. 2024. PMID: 38443601 Free PMC article.
Correlation of clinical and molecular features in spinal bulbar muscular atrophy.
Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG. Fratta P, et al. Neurology. 2014 Jun 10;82(23):2077-84. doi: 10.1212/WNL.0000000000000507. Epub 2014 May 9. Neurology. 2014. PMID: 24814851 Free PMC article.
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P, Sorarù G. Bertolin C, et al. Among authors: fratta p. Eur J Neurol. 2016 Jun;23(6):1134-6. doi: 10.1111/ene.13001. Eur J Neurol. 2016. PMID: 27141859
Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.
Manzano R, Sorarú G, Grunseich C, Fratta P, Zuccaro E, Pennuto M, Rinaldi C. Manzano R, et al. Among authors: fratta p. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):808-812. doi: 10.1136/jnnp-2017-316961. Epub 2018 Jan 20. J Neurol Neurosurg Psychiatry. 2018. PMID: 29353237 Free PMC article. Review.
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.
Lombardi V, Querin G, Ziff OJ, Zampedri L, Martinelli I, Heller C, Foiani M, Bertolin C, Lu CH, Malik B, Allen K, Rinaldi C, Zetterberg H, Heslegrave A, Greensmith L, Hanna M, Soraru G, Malaspina A, Fratta P. Lombardi V, et al. Among authors: fratta p. Neurology. 2019 Mar 12;92(11):e1205-e1211. doi: 10.1212/WNL.0000000000007097. Epub 2019 Feb 20. Neurology. 2019. PMID: 30787165 Free PMC article.
Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity.
Klickovic U, Zampedri L, Sinclair CDJ, Wastling SJ, Trimmel K, Howard RS, Malaspina A, Sharma N, Sidle K, Emira A, Shah S, Yousry TA, Hanna MG, Greensmith L, Morrow JM, Thornton JS, Fratta P. Klickovic U, et al. Among authors: fratta p. Neurology. 2019 Aug 27;93(9):e895-e907. doi: 10.1212/WNL.0000000000008009. Epub 2019 Aug 7. Neurology. 2019. PMID: 31391248 Free PMC article.
119 results