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Page 1
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Among authors: diana mc. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
Clinical and molecular consequences of exon 78 deletion in DMD gene.
Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C. Traverso M, et al. Among authors: diana mc. J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556034
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study.
Garibotto F, Madia F, Milanaccio C, Verrico A, Piccardo A, Tortora D, Piatelli G, Diana MC, Capra V, Garrè ML, Rossi A, Morana G. Garibotto F, et al. Among authors: diana mc. Front Oncol. 2020 Jun 3;10:795. doi: 10.3389/fonc.2020.00795. eCollection 2020. Front Oncol. 2020. PMID: 32582540 Free PMC article.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M, Schiavetti I, Madia F, Chelleri C, Piccolo G, Accogli A, Riva A, Salpietro V, Bocciardi R, Morcaldi G, Di Duca M, Caroli F, Verrico A, Milanaccio C, Viglizzo G, Traverso M, Baldassari S, Scudieri P, Iacomino M, Piatelli G, Minetti C, Striano P, Garrè ML, De Marco P, Diana MC, Capra V, Pavanello M, Zara F. Scala M, et al. Among authors: diana mc. Cancers (Basel). 2021 Apr 14;13(8):1879. doi: 10.3390/cancers13081879. Cancers (Basel). 2021. PMID: 33919865 Free PMC article.
Chemotherapy-associated paronychia: Do not forget the children.
Borgia P, Piccolo G, Diana MC, Viglizzo G. Borgia P, et al. Among authors: diana mc. J Am Acad Dermatol. 2023 Jan;88(1):e59. doi: 10.1016/j.jaad.2022.09.045. Epub 2022 Oct 4. J Am Acad Dermatol. 2023. PMID: 36206933 No abstract available.
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: diana mc. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: diana mc. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series.
Morello A, Scala M, Schiavetti I, Diana MC, Severino M, Tortora D, Piatelli G, Pavanello M. Morello A, et al. Among authors: diana mc. Childs Nerv Syst. 2024 Jun;40(6):1731-1741. doi: 10.1007/s00381-024-06304-z. Epub 2024 Feb 6. Childs Nerv Syst. 2024. PMID: 38316674 Free PMC article.
39 results