Murgia A - Search Results

1

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. Fehr S, et al. Among authors: murgia a. Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8. Eur J Hum Genet. 2013. PMID: 22872100 Free PMC article.

2

Molecular diagnosis of inherited diseases.

Murgia A, Polli R, Martella M, Vinanzi C, Opocher G. Murgia A, et al. Clin Chim Acta. 1999 Feb;280(1-2):73-80. doi: 10.1016/s0009-8981(98)00199-5. Clin Chim Acta. 1999. PMID: 10090525 Review.

3

Cx26 deafness: mutation analysis and clinical variability.

Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F. Murgia A, et al. J Med Genet. 1999 Nov;36(11):829-32. J Med Genet. 1999. PMID: 10544226 Free PMC article.

4

Somatic mosaicism in von Hippel-Lindau Disease.

Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G. Murgia A, et al. Hum Mutat. 2000 Jan;15(1):114. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7. Hum Mutat. 2000. PMID: 10612832

5

Molecular diagnosis of von Hippel-Lindau disease.

Murgia A, Martella M, Polli R, Piermarocchi S, Lo Giudice G, Opocher G. Murgia A, et al. Contrib Nephrol. 2001;(136):263-70. doi: 10.1159/000060193. Contrib Nephrol. 2001. PMID: 11688392 No abstract available.

6

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

Martella M, Salviati L, Casarin A, Trevisson E, Opocher G, Polli R, Gross D, Murgia A. Martella M, et al. Among authors: murgia a. J Hum Genet. 2006;51(11):964-968. doi: 10.1007/s10038-006-0054-9. Epub 2006 Sep 28. J Hum Genet. 2006. PMID: 17006605

7

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A. Sartori S, et al. Among authors: murgia a. J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16. J Child Neurol. 2008. PMID: 18487518

8

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A. Sartori S, et al. Among authors: murgia a. Am J Med Genet A. 2009 Feb;149A(2):232-6. doi: 10.1002/ajmg.a.32606. Am J Med Genet A. 2009. PMID: 19161156

9

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A. Artuso R, et al. Among authors: murgia a. Brain Dev. 2010 Jan;32(1):17-24. doi: 10.1016/j.braindev.2009.02.004. Epub 2009 Apr 10. Brain Dev. 2010. PMID: 19362436

10

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, Giordano L, Accorsi P, Di Rosa G, Toldo I, Zamponi N, Darra F, Dalla Bernardina B, Perilongo G, Boniver C, Murgia A. Sartori S, et al. Among authors: murgia a. J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11. J Child Neurol. 2011. PMID: 21482751

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