D'Amico A - Search Results

1

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C. Tiziano FD, et al. Eur J Hum Genet. 2010 Jan;18(1):52-8. doi: 10.1038/ejhg.2009.116. Eur J Hum Genet. 2010. PMID: 19603064 Free PMC article.

2

Pilot trial of phenylbutyrate in spinal muscular atrophy.

Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Mercuri E, et al. Neuromuscul Disord. 2004 Feb;14(2):130-5. doi: 10.1016/j.nmd.2003.11.006. Neuromuscul Disord. 2004. PMID: 14733959 Clinical Trial.

3

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

4

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

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

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E, Tonali PA, Ricci E. Pescatori M, et al. FASEB J. 2007 Apr;21(4):1210-26. doi: 10.1096/fj.06-7285com. Epub 2007 Jan 30. FASEB J. 2007. PMID: 17264171

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

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.

9

Daily salbutamol in young patients with SMA type II.

Pane M, Staccioli S, Messina S, D'Amico A, Pelliccioni M, Mazzone ES, Cuttini M, Alfieri P, Battini R, Main M, Muntoni F, Bertini E, Villanova M, Mercuri E. Pane M, et al. Neuromuscul Disord. 2008 Jul;18(7):536-40. doi: 10.1016/j.nmd.2008.05.004. Epub 2008 Jun 24. Neuromuscul Disord. 2008. PMID: 18579379 Clinical Trial.

10

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Martoni E, et al. Hum Mutat. 2009 May;30(5):E662-72. doi: 10.1002/humu.21022. Hum Mutat. 2009. PMID: 19309692

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