Hladnik U - Search Results

1

Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.

D'Adamo P, Ulivi S, Beneduci A, Pontoni G, Capasso G, Lanzara C, Andrighetto G, Hladnik U, Nunes V, Palacin M, Gasparini P. D'Adamo P, et al. Among authors: hladnik u. Amino Acids. 2010 Jan;38(1):65-73. doi: 10.1007/s00726-008-0205-8. Epub 2008 Dec 9. Amino Acids. 2010. PMID: 19067108

2

Age-related hearing loss in four Italian genetic isolates: an epidemiological study.

Bedin E, Franzè A, Zadro C, Persico MG, Ciullo M, Hladnik U, Dolcetta D, Grasso DL, Riccardi P, Nutile T, Andrighetto G, D'Adamo P, Gasparini P, Marciano E. Bedin E, et al. Among authors: hladnik u. Int J Audiol. 2009;48(7):465-72. doi: 10.1080/14992020902822039. Int J Audiol. 2009. PMID: 19925333

3

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.

Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. Fabretto A, et al. Among authors: hladnik u. Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517. Ophthalmic Genet. 2010. PMID: 20450314

4

Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.

Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U. Dolcetta D, et al. Among authors: hladnik u. Nucleosides Nucleotides Nucleic Acids. 2013;32(4):174-88. doi: 10.1080/15257770.2013.774012. Nucleosides Nucleotides Nucleic Acids. 2013. PMID: 24001191 Clinical Trial.

5

Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.

de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U. de Gemmis P, et al. Among authors: hladnik u. Mutat Res. 2010 Oct 13;692(1-2):1-5. doi: 10.1016/j.mrfmmm.2010.07.003. Epub 2010 Jul 16. Mutat Res. 2010. PMID: 20638392

6

Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes.

Grolla E, Andrighetto G, Parmigiani P, Hladnik U, Ferrari G, Bernardelle R, Lago MD, Albarello A, Baschirotto G, Filippi G, Lovato R, Dolcetta D. Grolla E, et al. Among authors: hladnik u. Disabil Rehabil. 2011;33(19-20):1837-47. doi: 10.3109/09638288.2010.549288. Epub 2011 Jan 26. Disabil Rehabil. 2011. PMID: 21269146

7

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

Anesi L, de Gemmis P, Pandolfo M, Hladnik U. Anesi L, et al. Among authors: hladnik u. J Mol Neurosci. 2011 Mar;43(3):346-9. doi: 10.1007/s12031-010-9448-4. Epub 2010 Sep 18. J Mol Neurosci. 2011. PMID: 20852969

8

An Italian cohort study identifies four new pathologic mutations in the ARSA gene.

Galla D, de Gemmis P, Anesi L, Berto S, Dolcetta D, Hladnik U. Galla D, et al. Among authors: hladnik u. J Mol Neurosci. 2013 Jun;50(2):284-90. doi: 10.1007/s12031-013-0006-8. Epub 2013 Apr 5. J Mol Neurosci. 2013. PMID: 23559313

9

HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells.

Cattelan P, Dolcetta D, Hladnik U, Fortunati E. Cattelan P, et al. Among authors: hladnik u. Biochem Biophys Res Commun. 2013 Nov 8;441(1):114-9. doi: 10.1016/j.bbrc.2013.10.029. Epub 2013 Oct 12. Biochem Biophys Res Commun. 2013. PMID: 24129187

10

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.

de Gemmis P, Enzo MV, Lorenzetto E, Cattelan P, Segat D, Hladnik U. de Gemmis P, et al. Among authors: hladnik u. Metab Brain Dis. 2017 Aug;32(4):1173-1183. doi: 10.1007/s11011-017-0010-8. Epub 2017 Apr 28. Metab Brain Dis. 2017. PMID: 28451781

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