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SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.
Abiusi E, Infante P, Cagnoli C, Lospinoso Severini L, Pane M, Coratti G, Pera MC, D'Amico A, Diano F, Novelli A, Spartano S, Fiori S, Baranello G, Moroni I, Mora M, Pasanisi MB, Pocino K, Le Pera L, D'Amico D, Travaglini L, Ria F, Bruno C, Locatelli D, Bertini ES, Morandi LO, Mercuri E, Di Marcotullio L, Tiziano FD. Abiusi E, et al. Among authors: travaglini l. Elife. 2021 Sep 20;10:e68054. doi: 10.7554/eLife.68054. Elife. 2021. PMID: 34542403 Free PMC article.
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: travaglini l. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
LMNA-associated myopathies: the Italian experience in a large cohort of patients.
Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, Vercelli L, D'Ambrosio P, Travaglini L, Sala S, Brenna G, Kapetis D, Scarlato M, Pegoraro E, Ferrari M, Toscano A, Benedetti S, Bernasconi P, Colleoni L, Lattanzi G, Bertini E, Mercuri E, Siciliano G, Rodolico C, Mongini T, Politano L, Previtali SC, Carboni N, Mantegazza R, Morandi L. Maggi L, et al. Among authors: travaglini l. Neurology. 2014 Oct 28;83(18):1634-44. doi: 10.1212/WNL.0000000000000934. Epub 2014 Oct 1. Neurology. 2014. PMID: 25274841
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. Nicita F, et al. Among authors: travaglini l. Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1. Parkinsonism Relat Disord. 2016. PMID: 27268479 No abstract available.
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Travaglini L, Nardella M, Bellacchio E, D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández-Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G. Travaglini L, et al. Eur J Paediatr Neurol. 2017 May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30. Eur J Paediatr Neurol. 2017. PMID: 28007337
114 results