D'Amico A - Search Results

1

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E. Bello L, et al. Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549409 Free PMC article.

2

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R. Guenther UP, et al. Hum Genet. 2004 Sep;115(4):319-26. doi: 10.1007/s00439-004-1156-0. Hum Genet. 2004. PMID: 15290238

3

Acute quadriplegic myopathy in a 16-month-old child.

Iodice F, Salzano M, Prosperi M, D' Amico A, Lauri A, Bertini E. Iodice F, et al. Paediatr Anaesth. 2005 Jul;15(7):611-5. doi: 10.1111/j.1460-9592.2005.01491.x. Paediatr Anaesth. 2005. PMID: 15960648

4

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

5

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

6

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.

Petrini S, D'Amico A, Sale P, Lucarini L, Sabatelli P, Tessa A, Giusti B, Verardo M, Carrozzo R, Mattioli E, Scarpelli M, Chu ML, Pepe G, Russo MA, Bertini E. Petrini S, et al. Neuromuscul Disord. 2007 Aug;17(8):587-96. doi: 10.1016/j.nmd.2007.04.010. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588753

7

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

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

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. Quijano-Roy S, et al. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Ann Neurol. 2008. PMID: 18551513

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