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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Among authors: mankad k. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.
Ruggieri M, Polizzi A, Salpietro V, Incorpora G, Nicita F, Pavone P, Falsaperla R, Nucifora C, Granata F, Distefano A, Padua L, Caltabiano R, Lanzafame S, Gabriele AL, Ortensi A, D'Orazi V, Panunzi A, Milone P, Mankad K, Platania N, Albanese V, Pavone V. Ruggieri M, et al. Among authors: mankad k. Neuropediatrics. 2013 Oct;44(5):239-44. doi: 10.1055/s-0033-1343350. Epub 2013 Jun 18. Neuropediatrics. 2013. PMID: 23780384 Review.
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Salpietro V, Ruggieri M, Mankad K, Di Rosa G, Granata F, Loddo I, Moschella E, Calabro MP, Capalbo A, Bernardini L, Novelli A, Polizzi A, Seidler DG, Arrigo T, Briuglia S. Salpietro V, et al. Among authors: mankad k. Am J Med Genet A. 2015 Sep;167A(9):2042-51. doi: 10.1002/ajmg.a.37118. Epub 2015 May 1. Am J Med Genet A. 2015. PMID: 25940952
Proteus syndrome: evaluation of the immunological profile.
Lougaris V, Salpietro V, Cutrupi M, Baronio M, Moratto D, Pizzino MR, Mankad K, Briuglia S, Salpietro C, Plebani A. Lougaris V, et al. Among authors: mankad k. Orphanet J Rare Dis. 2016 Jan 13;11:3. doi: 10.1186/s13023-015-0381-z. Orphanet J Rare Dis. 2016. PMID: 26758562 Free PMC article.
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. Papandreou A, et al. Among authors: mankad k. Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029630 Free PMC article.
Mixed vascular nevus syndrome: a report of four new cases and a literature review.
Ruggieri M, Polizzi A, Strano S, Schepis C, Morano M, Belfiore G, Palmucci S, Foti PV, Pirrone C, Sofia V, David E, Salpietro V, Mankad K, Milone P. Ruggieri M, et al. Among authors: mankad k. Quant Imaging Med Surg. 2016 Oct;6(5):515-524. doi: 10.21037/qims.2016.10.09. Quant Imaging Med Surg. 2016. PMID: 27942471 Free PMC article.
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H. Salpietro V, et al. Among authors: mankad k. Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27. Hum Mutat. 2018. PMID: 29127725 Free PMC article.
Pediatric stroke: current diagnostic and management challenges.
Rajani NK, Pearce K, Campion T, Salpietro V, Planells M, Chong W, Patankar T, Mankad K. Rajani NK, et al. Among authors: mankad k. Quant Imaging Med Surg. 2018 Nov;8(10):984-991. doi: 10.21037/qims.2018.11.09. Quant Imaging Med Surg. 2018. PMID: 30598876 Free PMC article. No abstract available.
275 results