Brega A - Search Results

1

A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.

Menotti F, Brega A, Diegoli M, Grasso M, Modena MG, Arbustini E. Menotti F, et al. Among authors: brega a. Ital Heart J. 2004 Jun;5(6):460-5. Ital Heart J. 2004. PMID: 15320572

2

Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.

Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, Grasso M, Pilotto A, Porcu E, Raisaro A, Raineri C, Dore R, Maggio PP, Brega A, Arbustini E. Marziliano N, et al. Among authors: brega a. Am J Med Genet A. 2007 May 1;143A(9):907-15. doi: 10.1002/ajmg.a.31653. Am J Med Genet A. 2007. PMID: 17394203 Free article.

3

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.

Grasso M, Diegoli M, Brega A, Campana C, Tavazzi L, Arbustini E. Grasso M, et al. Among authors: brega a. Eur J Hum Genet. 2001 Apr;9(4):311-5. doi: 10.1038/sj.ejhg.5200622. Eur J Hum Genet. 2001. PMID: 11313776

4

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Arbustini E, et al. Among authors: brega a. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377. Hum Mutat. 2005. PMID: 16222657

5

Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases.

Brega A, Narula J, Arbustini E. Brega A, et al. J Nucl Cardiol. 2001 Jan-Feb;8(1):89-97. doi: 10.1067/mnc.2001.112755. J Nucl Cardiol. 2001. PMID: 11182713 Review.

6

Early diagnosis of Wilson Disease in a six-year-old child.

Lo Curto AG, Marchi A, Grasso M, Arbustini E, Loudianos G, Brega A. Lo Curto AG, et al. Among authors: brega a. J Pediatr. 2006 Jan;148(1):141. doi: 10.1016/j.jpeds.2005.07.040. J Pediatr. 2006. PMID: 16423616 No abstract available.

7

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.

Bozzola M, Travaglino P, Marziliano N, Meazza C, Pagani S, Grasso M, Tauber M, Diegoli M, Pilotto A, Disabella E, Tarantino P, Brega A, Arbustini E. Bozzola M, et al. Among authors: brega a. Mol Genet Metab. 2009 Nov;98(3):310-3. doi: 10.1016/j.ymgme.2009.05.009. Epub 2009 May 28. Mol Genet Metab. 2009. PMID: 19541519

8

Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.

Galimberti CA, Diegoli M, Sartori I, Uggetti C, Brega A, Tartara A, Arbustini E. Galimberti CA, et al. Among authors: brega a. Neurology. 2006 Nov 14;67(9):1715-7. doi: 10.1212/01.wnl.0000242882.58086.9a. Neurology. 2006. PMID: 17101920 No abstract available.

9

Gene symbol: LMNA.

Arbustini E, Pasotti M, Pilotto A, Diegoli M, Brega A, Disabella E, Grasso M, Marziliano N. Arbustini E, et al. Among authors: brega a. Hum Genet. 2007 Feb;120(6):910. Hum Genet. 2007. PMID: 17438628 No abstract available.

10

Ultrastructural definition of apoptosis in heart failure.

Arbustini E, Brega A, Narula J. Arbustini E, et al. Among authors: brega a. Heart Fail Rev. 2008 Jun;13(2):121-35. doi: 10.1007/s10741-007-9072-8. Heart Fail Rev. 2008. PMID: 18172761 Review.

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