D'Amico A - Search Results

1

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Maggi L, Bernasconi P, D'Amico A, Brugnoni R, Fiorillo C, Garibaldi M, Astrea G, Bruno C, Santorelli FM, Liguori R, Antonini G, Evoli A, Bertini E, Rodolico C, Mantegazza R. Maggi L, et al. Neurol Sci. 2019 Mar;40(3):457-468. doi: 10.1007/s10072-018-3682-x. Epub 2018 Dec 15. Neurol Sci. 2019. PMID: 30554356

2

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C. Di Rosa G, et al. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub 2006 May 30. J Inherit Metab Dis. 2006. PMID: 16736096

3

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB. D'Amico A, et al. Neuromuscul Disord. 2006 Oct;16(9-10):548-52. doi: 10.1016/j.nmd.2006.07.005. Epub 2006 Sep 1. Neuromuscul Disord. 2006. PMID: 16945537

4

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669

5

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia.

Danhaive O, Lozzi S, D'amico A, Devito R, Boldrini R, Corchia C, Bagolan P, Bertini E. Danhaive O, et al. J Pediatr Surg. 2007 Jul;42(7):E19-22. doi: 10.1016/j.jpedsurg.2007.04.030. J Pediatr Surg. 2007. PMID: 17618867

6

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.

D'Amico A, Petrini S, Parisi F, Tessa A, Francalanci P, Grutter G, Santorelli FM, Bertini E. D'Amico A, et al. Neuromuscul Disord. 2008 Feb;18(2):153-5. doi: 10.1016/j.nmd.2007.09.013. Epub 2007 Dec 3. Neuromuscul Disord. 2008. PMID: 18060779

7

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H. Mihaylova V, et al. Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7. Brain. 2008. PMID: 18180250

8

Clinical and genetic characterization of Chanarin-Dorfman syndrome.

Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C. Bruno C, et al. Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8. doi: 10.1016/j.bbrc.2008.03.010. Epub 2008 Mar 11. Biochem Biophys Res Commun. 2008. PMID: 18339307

9

Congenital myopathies.

D'Amico A, Bertini E. D'Amico A, et al. Curr Neurol Neurosci Rep. 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. Curr Neurol Neurosci Rep. 2008. PMID: 18367042 Review.

10

Mitochondrial encephalomyopathies and related syndromes: brief review.

Bertini E, D'Amico A. Bertini E, et al. Endocr Dev. 2009;14:38-52. doi: 10.1159/000207439. Endocr Dev. 2009. PMID: 19334348 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,301 results

Search Page