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Page 1
Galactosialidosis: review and analysis of CTSA gene mutations.
Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A. Caciotti A, et al. Among authors: lugli l. Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. Orphanet J Rare Dis. 2013. PMID: 23915561 Free PMC article. Review.
New clinical and molecular insights on Barth syndrome.
Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: lugli l. Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27. Orphanet J Rare Dis. 2013. PMID: 23409742 Free PMC article.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics; Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Martinelli S, et al. Among authors: lugli l. Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25. Am J Hum Genet. 2018. PMID: 29394990 Free PMC article.
Pre- and post-natal growth in two sisters with 3-M syndrome.
Lugli L, Bertucci E, Mazza V, Elmakky A, Ferrari F, Neuhaus C, Percesepe A. Lugli L, et al. Eur J Med Genet. 2016 Apr;59(4):232-6. doi: 10.1016/j.ejmg.2016.01.009. Epub 2016 Feb 2. Eur J Med Genet. 2016. PMID: 26850509
Neuroprem: the Neuro-developmental outcome of very low birth weight infants in an Italian region.
Lugli L, Pugliese M, Plessi C, Berardi A, Guidotti I, Ancora G, Grandi S, Gargano G, Braibanti S, Sandri F, Soffritti S, Ballardini E, Arena V, Stella M, Perrone S, Moretti S, Rizzo V, Ferrari F; Neuroprem Working Group; Picciolini O, Bellù R, Turoli D, Corvaglia LT, Garani G, Paoletti V, Biasucci G, Biasini A, Benenati B, Stagi P, Magnani C, Dallaglio S, DellaCasa Muttini E, Roversi MF, Bedetti L, Lucaccioni L, Bertoncelli N, Boncompagni A. Lugli L, et al. Ital J Pediatr. 2020 Feb 22;46(1):26. doi: 10.1186/s13052-020-0787-7. Ital J Pediatr. 2020. PMID: 32087748 Free PMC article.
155 results