D'Amico A - Search Results

1

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Cappuccio G, Cozzolino C, Frisso G, Romanelli R, Parenti G, D'Amico A, Carotenuto B, Salvatore F, Del Giudice E. Cappuccio G, et al. Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591. Neurology. 2014. PMID: 25024447 No abstract available.

2

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E. Terrone G, et al. Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29. Eur J Med Genet. 2012. PMID: 22659270

3

Type a niemann-pick disease. Description of three cases with delayed myelination.

D'Amico A, Sibilio M, Caranci F, Bartiromo F, Taurisano R, Balivo F, Melis D, Parenti G, Cirillo S, Elefante R, Brunetti A. D'Amico A, et al. Neuroradiol J. 2008 Jun 3;21(3):309-15. doi: 10.1177/197140090802100303. Epub 2008 Jun 3. Neuroradiol J. 2008. PMID: 24256898

4

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.

D'Amico A, Melis D, D'Arco F, Di Paolo N, Carotenuto B, D'Anna G, Russo C, Boemio P, Brunetti A. D'Amico A, et al. Pol J Radiol. 2013 Oct;78(4):83-7. doi: 10.12659/PJR.889531. Epub 2013 Nov 19. Pol J Radiol. 2013. PMID: 24505229 Free PMC article.

5

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group. Del Giudice E, et al. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. Orphanet J Rare Dis. 2014. PMID: 24884629 Free PMC article.

6

Cerebral Accidents in Pediatric Diabetic Ketoacidosis: Different Complications and Different Evolutions.

Mozzillo E, D'Amico A, Fattorusso V, Carotenuto B, Buono P, De Nitto E, Falco M, Franzese A. Mozzillo E, et al. Horm Res Paediatr. 2015;84(2):139-44. doi: 10.1159/000382016. Epub 2015 Jun 27. Horm Res Paediatr. 2015. PMID: 26138370

7

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A. Terrone G, et al. Eur J Hum Genet. 2016 Aug;24(9):1359-62. doi: 10.1038/ejhg.2016.7. Epub 2016 Feb 10. Eur J Hum Genet. 2016. PMID: 26860062 Free PMC article.

8

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):902-906. doi: 10.1016/j.ejpn.2017.07.006. Epub 2017 Jul 20. Eur J Paediatr Neurol. 2017. PMID: 28754298

9

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Fontana P, Melis D, D'Amico A, Cappuccio G, Auletta G, Vassallo P, Genesio R, Nitsch L, Buffolano W. Fontana P, et al. J Pediatr Genet. 2017 Sep;6(3):181-185. doi: 10.1055/s-0037-1599223. Epub 2017 Mar 7. J Pediatr Genet. 2017. PMID: 28794912 Free PMC article.

10

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. Ann Neurol. 2017. PMID: 28972664 No abstract available.

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