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714 results

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Page 1
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N. Ranieri C, et al. Among authors: ruggieri m. Neurogenetics. 2018 May;19(2):77-91. doi: 10.1007/s10048-018-0540-1. Epub 2018 Mar 16. Neurogenetics. 2018. PMID: 29549527 Free PMC article.
Pseudohypoparathyroidism Ia with Evans syndrome.
Pavone P, Praticò AD, Castellano-Chiodo D, Ruggieri M. Pavone P, et al. Among authors: ruggieri m. J Pediatr Hematol Oncol. 2008 Aug;30(8):628-30. doi: 10.1097/MPH.0b013e318175890f. J Pediatr Hematol Oncol. 2008. PMID: 18799944
Infantile spasms in the setting of Sturge-Weber syndrome.
Barbagallo M, Ruggieri M, Incorpora G, Pavone P, Nucifora C, Spalice A, Praticò AD, Polizzi A, Pavone L, Iannetti P. Barbagallo M, et al. Among authors: ruggieri m. Childs Nerv Syst. 2009 Jan;25(1):111-8. doi: 10.1007/s00381-008-0705-6. Epub 2008 Oct 2. Childs Nerv Syst. 2009. PMID: 18830609
Recurrent obstructive hydrocephalus in a 4-month-old infant.
Castellano-Chiodo D, Pavone P, Praticò AD, Romantshik O, Rossi A, Raffaele R, Pavone L, Ruggieri M. Castellano-Chiodo D, et al. Among authors: ruggieri m. Childs Nerv Syst. 2010 Jan;26(1):133-6. doi: 10.1007/s00381-009-1006-4. Epub 2009 Oct 22. Childs Nerv Syst. 2010. PMID: 19847441
Hemihydranencephaly: living with half brain dysfunction.
Pavone P, Nigro F, Falsaperla R, Greco F, Ruggieri M, Rizzo R, Praticò AD, Pavone L. Pavone P, et al. Among authors: ruggieri m. Ital J Pediatr. 2013 Jan 16;39:3. doi: 10.1186/1824-7288-39-3. Ital J Pediatr. 2013. PMID: 23324549 Free PMC article. Review.
Natural history of neurofibromatosis type 2 with onset before the age of 1 year.
Ruggieri M, Gabriele AL, Polizzi A, Salpietro V, Nicita F, Pavone P, Platania N, Milone P, Distefano A, Privitera G, Belfiore G, Granata F, Caltabiano R, Albanese V, Pavone L, Quattrone A. Ruggieri M, et al. Neurogenetics. 2013 May;14(2):89-98. doi: 10.1007/s10048-013-0354-0. Epub 2013 Feb 3. Neurogenetics. 2013. PMID: 23377185 Review.
West syndrome treatment: new roads for an old syndrome.
Pavone P, Falsaperla R, Ruggieri M, Praticò AD, Pavone L. Pavone P, et al. Among authors: ruggieri m. Front Neurol. 2013 Aug 12;4:113. doi: 10.3389/fneur.2013.00113. eCollection 2013. Front Neurol. 2013. PMID: 23964265 Free PMC article. No abstract available.
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
Pavone P, Briuglia S, Falsaperla R, Warm A, Pavone V, Bernardini L, Novelli A, Praticò AD, Salpietro V, Ruggieri M. Pavone P, et al. Among authors: ruggieri m. Am J Med Genet A. 2014 Jul;164A(7):1734-43. doi: 10.1002/ajmg.a.36391. Epub 2014 May 7. Am J Med Genet A. 2014. PMID: 24807585 Review.
714 results