Mercuri E - Search Results

1

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G. Zollino M, et al. Among authors: mercuri e. Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257. Nat Genet. 2012. PMID: 22544367

2

Severe abnormalities of the pons in two infants with goldenhar syndrome.

Pane M, Baranello G, Battaglia D, Donvito V, Carnevale F, Stefanini MC, Guzzetta F, Mercuri E, Bertini E. Pane M, et al. Among authors: mercuri e. Neuropediatrics. 2004 Aug;35(4):234-8. doi: 10.1055/s-2004-820894. Neuropediatrics. 2004. PMID: 15328563

3

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.

Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G. Brahe C, et al. Among authors: mercuri e. Eur J Hum Genet. 2005 Feb;13(2):256-9. doi: 10.1038/sj.ejhg.5201320. Eur J Hum Genet. 2005. PMID: 15523494 Clinical Trial.

4

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. Among authors: mercuri e. 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.

5

Visual and visuoperceptual function in children with Panayiotopoulos syndrome.

De Rose P, Perrino F, Lettori D, Alfieri P, Cesarini L, Battaglia D, Ricci D, Guzzetta F, Mercuri E. De Rose P, et al. Among authors: mercuri e. Epilepsia. 2010 Jul;51(7):1205-11. doi: 10.1111/j.1528-1167.2009.02484.x. Epub 2010 Jan 7. Epilepsia. 2010. PMID: 20067504 Free article.

6

Early development of epileptic infants with pre- or perinatal brain injuries: role of the epileptic disorder.

Barone MR, Battaglia D, Veredice C, De Waure C, Ricci D, Baranello G, Mercuri E, Guzzetta F. Barone MR, et al. Among authors: mercuri e. Neuropediatrics. 2009 Oct;40(5):218-23. doi: 10.1055/s-0030-1248248. Epub 2010 Mar 10. Neuropediatrics. 2009. PMID: 20221957

7

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.

Tiziano FD, Lomastro R, Pinto AM, Messina S, D'Amico A, Fiori S, Angelozzi C, Pane M, Mercuri E, Bertini E, Neri G, Brahe C. Tiziano FD, et al. Among authors: mercuri e. J Med Genet. 2010 Dec;47(12):856-8. doi: 10.1136/jmg.2010.080366. Epub 2010 Sep 12. J Med Genet. 2010. PMID: 20837492 Clinical Trial.

8

Early development in Dravet syndrome; visual function impairment precedes cognitive decline.

Chieffo D, Ricci D, Baranello G, Martinelli D, Veredice C, Lettori D, Battaglia D, Dravet C, Mercuri E, Guzzetta F. Chieffo D, et al. Among authors: mercuri e. Epilepsy Res. 2011 Jan;93(1):73-9. doi: 10.1016/j.eplepsyres.2010.10.015. Epub 2010 Nov 24. Epilepsy Res. 2011. PMID: 21109403

9

Neuropsychological development in children with Dravet syndrome.

Chieffo D, Battaglia D, Lettori D, Del Re M, Brogna C, Dravet C, Mercuri E, Guzzetta F. Chieffo D, et al. Among authors: mercuri e. Epilepsy Res. 2011 Jun;95(1-2):86-93. doi: 10.1016/j.eplepsyres.2011.03.005. Epub 2011 Apr 6. Epilepsy Res. 2011. PMID: 21474289

10

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.

Battaglia D, Lin YW, Brogna C, Crinò A, Grasso V, Mozzi AF, Russo L, Spera S, Colombo C, Ricci S, Nichols CG, Mercuri E, Barbetti F. Battaglia D, et al. Among authors: mercuri e. Pediatr Diabetes. 2012 Dec;13(8):656-60. doi: 10.1111/j.1399-5448.2012.00874.x. Epub 2012 Jun 14. Pediatr Diabetes. 2012. PMID: 22694282 Free PMC article.

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