Salemi R - Search Results

1

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Sugiana C, et al. Among authors: salemi r. Am J Hum Genet. 2008 Oct;83(4):468-78. doi: 10.1016/j.ajhg.2008.09.009. Am J Hum Genet. 2008. PMID: 18940309 Free PMC article.

2

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. Kirby DM, et al. Among authors: salemi r. J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683. J Clin Invest. 2004. PMID: 15372108 Free PMC article.

3

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Swalwell H, et al. Among authors: salemi r. Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364701 Free PMC article.

4

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, Ohtake A, Ryan MT. Thorburn DR, et al. Among authors: salemi r. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):121-8. doi: 10.1016/j.bbabio.2004.08.006. Biochim Biophys Acta. 2004. PMID: 15576043 Free article. Review.

5

Alpers syndrome with mutations in POLG: clinical and investigative features.

Hunter MF, Peters H, Salemi R, Thorburn D, Mackay MT. Hunter MF, et al. Among authors: salemi r. Pediatr Neurol. 2011 Nov;45(5):311-8. doi: 10.1016/j.pediatrneurol.2011.07.008. Pediatr Neurol. 2011. PMID: 22000311

6

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Van Goethem G, Dimauro S, Thorburn DR, Suomalainen A. Hakonen AH, et al. Among authors: salemi r. Eur J Hum Genet. 2007 Jul;15(7):779-83. doi: 10.1038/sj.ejhg.5201831. Epub 2007 Apr 11. Eur J Hum Genet. 2007. PMID: 17426723

7

Clinical responses observed with imatinib or sorafenib in melanoma patients expressing mutations in KIT.

Handolias D, Hamilton AL, Salemi R, Tan A, Moodie K, Kerr L, Dobrovic A, McArthur GA. Handolias D, et al. Among authors: salemi r. Br J Cancer. 2010 Apr 13;102(8):1219-23. doi: 10.1038/sj.bjc.6605635. Epub 2010 Apr 6. Br J Cancer. 2010. PMID: 20372153 Free PMC article.

8

Clinical outcome and pathological features associated with NRAS mutation in cutaneous melanoma.

Devitt B, Liu W, Salemi R, Wolfe R, Kelly J, Tzen CY, Dobrovic A, McArthur G. Devitt B, et al. Among authors: salemi r. Pigment Cell Melanoma Res. 2011 Aug;24(4):666-72. doi: 10.1111/j.1755-148X.2011.00873.x. Epub 2011 Jun 22. Pigment Cell Melanoma Res. 2011. PMID: 21615881

9

Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure.

Handolias D, Salemi R, Murray W, Tan A, Liu W, Viros A, Dobrovic A, Kelly J, McArthur GA. Handolias D, et al. Among authors: salemi r. Pigment Cell Melanoma Res. 2010 Apr;23(2):210-5. doi: 10.1111/j.1755-148X.2010.00671.x. Epub 2010 Jan 20. Pigment Cell Melanoma Res. 2010. PMID: 20088873

10

Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.

Wong SQ, Li J, Salemi R, Sheppard KE, Do H, Tothill RW, McArthur GA, Dobrovic A. Wong SQ, et al. Among authors: salemi r. Sci Rep. 2013 Dec 13;3:3494. doi: 10.1038/srep03494. Sci Rep. 2013. PMID: 24336498 Free PMC article.

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