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Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS).
Spataro F, Viggiani F, Macchia DG, Rollo V, Tummolo A, Suppressa P, Sabba' C, Rossi MP, Giliberti L, Satriano F, Nettis E, Di Bona D, Caiaffa MF, Fischetto R, Macchia L. Spataro F, et al. Among authors: tummolo a. Orphanet J Rare Dis. 2022 Nov 3;17(1):402. doi: 10.1186/s13023-022-02556-7. Orphanet J Rare Dis. 2022. PMID: 36329518 Free PMC article.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program; Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. Cappuccio G, et al. Genet Med. 2020 Nov;22(11):1838-1850. doi: 10.1038/s41436-020-0898-y. Epub 2020 Jul 22. Genet Med. 2020. PMID: 32694869 Free article.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
Mid-aortic syndrome: long-term outcome of 36 children.
Tummolo A, Marks SD, Stadermann M, Roebuck DJ, McLaren CA, Hamilton G, Dillon MJ, Tullus K. Tummolo A, et al. Pediatr Nephrol. 2009 Nov;24(11):2225-32. doi: 10.1007/s00467-009-1242-6. Epub 2009 Jul 15. Pediatr Nephrol. 2009. PMID: 19603194
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Body Composition in Adolescent PKU Patients: Beyond Fat Mass.
Tummolo A, Carella R, Paterno G, Bartolomeo N, Giotta M, Dicintio A, De Giovanni D, Fischetto R. Tummolo A, et al. Children (Basel). 2022 Sep 4;9(9):1353. doi: 10.3390/children9091353. Children (Basel). 2022. PMID: 36138662 Free PMC article.
Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α.
Brunetti G, Papadia F, Tummolo A, Fischetto R, Nicastro F, Piacente L, Ventura A, Mori G, Oranger A, Gigante I, Colucci S, Ciccarelli M, Grano M, Cavallo L, Delvecchio M, Faienza MF. Brunetti G, et al. Among authors: tummolo a. Osteoporos Int. 2016 Jul;27(7):2355-2365. doi: 10.1007/s00198-016-3501-2. Epub 2016 Feb 8. Osteoporos Int. 2016. PMID: 26856585
56 results