Ruggieri M - Search Results

1

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C. Leuzzi V, et al. Among authors: ruggieri m. JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1. JIMD Rep. 2015. PMID: 24788355 Free PMC article.

2

Callosal anomalies with interhemispheric cyst: expanding the phenotype.

Pavone P, Barone R, Baieli S, Parano E, Incorpora G, Ruggieri M. Pavone P, et al. Among authors: ruggieri m. Acta Paediatr. 2005 Aug;94(8):1066-72. doi: 10.1111/j.1651-2227.2005.tb02047.x. Acta Paediatr. 2005. PMID: 16188851

3

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M. Polizzi A, et al. Among authors: ruggieri m. Pediatr Neurol. 2006 Jan;34(1):66-71. doi: 10.1016/j.pediatrneurol.2005.07.004. Pediatr Neurol. 2006. PMID: 16376284

4

Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity.

Ruggieri M, Incorpora G, Polizzi A, Parano E, Spina M, Pavone P. Ruggieri M, et al. J Pediatr. 2008 Feb;152(2):244-9. doi: 10.1016/j.jpeds.2007.06.042. Epub 2007 Nov 19. J Pediatr. 2008. PMID: 18206697

5

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

6

Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.

Barbagallo M, Pavone P, Incorpora G, Domenico Praticò A, Romantshik O, Friso S, Spalice A, Nicita F, Polizzi A, Ruggieri M, Iannetti P. Barbagallo M, et al. Among authors: ruggieri m. Childs Nerv Syst. 2009 Mar;25(3):361-5. doi: 10.1007/s00381-008-0724-3. Epub 2008 Oct 29. Childs Nerv Syst. 2009. PMID: 18958479

7

Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.

Mastrangelo M, Mariani R, Spalice A, Ruggieri M, Iannetti P. Mastrangelo M, et al. Among authors: ruggieri m. Acta Paediatr. 2009 Apr;98(4):760-2. doi: 10.1111/j.1651-2227.2008.01183.x. Epub 2008 Jan 6. Acta Paediatr. 2009. PMID: 19141142

8

Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children.

Spalice A, Ruggieri M, Grosso S, Verrotti A, Polizzi A, Magro G, Caltabiano R, Pavone P, Del Balzo F, Platania N, Iannetti P. Spalice A, et al. Among authors: ruggieri m. Pediatr Neurol. 2010 Dec;43(6):395-402. doi: 10.1016/j.pediatrneurol.2010.06.017. Pediatr Neurol. 2010. PMID: 21093729

9

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.

Ruggieri M, Mastrangelo M, Spalice A, Mariani R, Torrente I, Polizzi A, Bottillo I, Di Biase C, Iannetti P. Ruggieri M, et al. Am J Med Genet A. 2011 Mar;155A(3):582-5. doi: 10.1002/ajmg.a.33318. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344624

10

Ohtahara syndrome with emphasis on recent genetic discovery.

Pavone P, Spalice A, Polizzi A, Parisi P, Ruggieri M. Pavone P, et al. Among authors: ruggieri m. Brain Dev. 2012 Jun;34(6):459-68. doi: 10.1016/j.braindev.2011.09.004. Epub 2011 Oct 2. Brain Dev. 2012. PMID: 21967765 Review.

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