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116 results

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Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M, Panfili FM, Vecchio D, Cortellessa F, Gonfiantini MV, Buonuomo PS, Pietrobattista A, Francalanci P, Travaglini L, Bertini ES, El Hachem M, Bartuli A. Macchiaiolo M, et al. Among authors: travaglini l. Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L. Nicita F, et al. Among authors: travaglini l. Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17. Eur J Hum Genet. 2022. PMID: 35581417 Free PMC article.
PRRT2 is mutated in familial and non-familial benign infantile seizures.
Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F. Specchio N, et al. Among authors: travaglini l. Eur J Paediatr Neurol. 2013 Jan;17(1):77-81. doi: 10.1016/j.ejpn.2012.07.006. Epub 2012 Aug 17. Eur J Paediatr Neurol. 2013. PMID: 22902423
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
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C. Martinelli D, et al. Among authors: travaglini l. Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Brain. 2013. PMID: 23423674
116 results