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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
Magri S, Nanetti L, Gellera C, Sarto E, Rizzo E, Mongelli A, Ricci B, Fancellu R, Sambati L, Cortelli P, Brusco A, Bruzzone MG, Mariotti C, Di Bella D, Taroni F. Magri S, et al. Among authors: cortelli p. Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906452 Free article.
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
Migraine: risk factor and comorbidity.
Giannini G, Cevoli S, Sambati L, Cortelli P. Giannini G, et al. Among authors: cortelli p. Neurol Sci. 2012 May;33 Suppl 1:S37-41. doi: 10.1007/s10072-012-1029-6. Neurol Sci. 2012. PMID: 22644168
Migraine and cardiovascular diseases.
Pierangeli G, Giannini G, Favoni V, Sambati L, Cevoli S, Cortelli P. Pierangeli G, et al. Among authors: cortelli p. Neurol Sci. 2012 May;33 Suppl 1:S47-50. doi: 10.1007/s10072-012-1040-y. Neurol Sci. 2012. PMID: 22644170 Review.
Cognitive function in peripheral autonomic disorders.
Guaraldi P, Poda R, Calandra-Buonaura G, Solieri L, Sambati L, Gallassi R, Cortelli P. Guaraldi P, et al. Among authors: cortelli p. PLoS One. 2014 Jan 17;9(1):e85020. doi: 10.1371/journal.pone.0085020. eCollection 2014. PLoS One. 2014. PMID: 24465471 Free PMC article.
640 results