Hladnik U - Search Results

1

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

2

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.

3

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

4

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

5

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

6

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

7

Variable expression of HPRT deficiency in 5 members of a family with the same mutation.

Hladnik U, Nyhan WL, Bertelli M. Hladnik U, et al. Arch Neurol. 2008 Sep;65(9):1240-3. doi: 10.1001/archneur.65.9.1240. Arch Neurol. 2008. PMID: 18779430

8

Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.

Cristini S, Navone S, Canzi L, Acerbi F, Ciusani E, Hladnik U, de Gemmis P, Alessandri G, Colombo A, Parati E, Invernici G. Cristini S, et al. Among authors: hladnik u. Hum Mol Genet. 2010 May 15;19(10):1939-50. doi: 10.1093/hmg/ddq072. Epub 2010 Feb 16. Hum Mol Genet. 2010. PMID: 20159777

9

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

10

[Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus].

Musone D, Nicosia V, Treglia A, Amoroso F, de Gemmis P, Enzo MV, Hladnik U. Musone D, et al. Among authors: hladnik u. G Ital Nefrol. 2020 Apr 9;37(2):2020-vol2. G Ital Nefrol. 2020. PMID: 32281760 Italian.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

28 results

Search Page

Filters