Pubblicazioni Scientifiche

  1. Paola Cattelan, Diego Dolcetta, Uros Hladnik and Elisabetta Fortunati. HIV-1 TAT-mediated protein transduction of human HPRT intodeficient cells. Biochem. Biophys. Res. Commun. 11 Nov 2013 
  2. Galla Daniela, de Gemmis Paola, Anesi Laura, Berto Silvia, Dolcetta Diego, Hladnik Uros. An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene. J Mol Neurosci. 2013 Apr 5. [Epub ahead of print].
  3. Tosi Giovanni, Bortot Barbara, Ruozi Barbara, Dolcetta Diego, Vandelli Maria Angela, Forni Flavio, Severini Giovanni Maria. Potential Use of Polymeric Nanoparticles for Drug Delivery Across the Blood-Brain Barrier. Curr Med Chem. 2013 Jun 1;20(17):2212-25.
  4. Cristiana Meneghello, Bouchra Ousghir, Marco Rastrelli, Laura Anesi, Antonio Sommariva, Maria Cristina Montesco, Carlo Riccardo Rossi, Uros Hladnik, Daniela Segat. Nuclear GSK-3β segregation in desmoid-type fibromatosis. Histopathology. 2013 Mar 19. [Epub ahead of print]
  5. Anesi L, de Gemmis P, Galla D, Hladnik U. Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions. Nephrol Dial Transplant. 2012 Oct;27(10):3705-12.
  6. Fusco C, Russo A, Galla D, Hladnik U, Frattini D, Giustina ED. New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy. J Child Neurol. 2012 Oct 30.
  7. Tosi G, Bondioli L, Ruozi B, Badiali L, Severini GM, Biffi S, De Vita A, Bortot B, Dolcetta D, Forni F, Vandelli MA. NIR-labeled nanoparticles engineered for brain targeting: in vivo optical imaging application and fluorescent microscopy evidences. J Neural Transm. 2011 Jan;118(1):145-53.
  8. Grolla E, Andrighetto G, Parmigiani P, Hladnik U, Ferrari G, Bernardelle R, Dal Lago M, Albarello A, Baschirotto G, Filippi G, Lovato R, Dolcetta D. Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes. Disabil Rehabil. 2011 Jan 26.
  9. Anesi L, de Gemmis P, Pandolfo M, Hladnik U. Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS. J Mol Neurosci. (2010) Sep 18. IF 2.72 (2010)
  10. 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 Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat Res. (2010) 2010 Oct 13;692(1-2):1-5. Epub 2010 Jul 16 IF 3.764 (2010)
  11. Cristini S, Navone S, Canzi L, Acerbi F, Ciusani E, Hladnik U, de Gemmis P, Alessandri G, Colombo A, Parati E, Invernici G Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects. Hum Mol Genet. (2010) 2010 May 15;19(10):1939-50. Epub 2010 Feb 16. IF 7.386 (2010)
  12. Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet. (2010) 2010 Jun;31(2):98-100 IF 1.41 (2010)
  13. Bedin, Franzé, Zadro, Persico, Ciullo, Dolcetta, Hladnik, Riccardi, Nutile, Andrighetto, D’Adamo, Grasso, Gasparini, Marciano Age-related hearing loss in four Italian genetic isolates: an epidemiological study. International Journal of Audiology (2009) 2009;48(7):465-72 IF 1.13 (2010)
  14. Stefano Maffè, Fabiana Signorotti, Antonello Perucca, Massimo Bielli, Uros Hladnik, Elena Ragazzoni, Elisabetta Maduli, Paola Baffoni, Pierfranco Dellavesa, Anna Maria Paino, Franco Zenone, Umberto Parravicini, Nicolò Franchetti Pardo, Lorenzo Cucchi and Marco Zanetta. Atypical arrhytmic compilcations in familial hypokalemic paeriodic paralysis. Journal of Cardiovasculare Medicine, 2009, 10:68-71. IF 0.712 (2010)
  15. Hladnik U, Nyhan WL and Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol 2008; 65(9):1240-3 IF 6.31 (2010)
  16. d’Adamo Pio, Ulivi Sheila, Benedici Amerigo, Pontoni Gabriele, Papasso Giovambattista, Lanzara Carmela, Andrighetto Gilberto, Hladnik Uros, Nunes Virginia, Palacin Manuel and Gasparini Paolo. Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations. Amino Acids 9 Dicembre 2008. IF 3.877 (2010)
  17. Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA. Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls (2007). Neurology 68(13):975-6. IF 8.17 (2010)
  18. Bertelli M, Cecchin S, Lapucci C, de Gemmis P, Danieli D, D’Amore ESG, Buttalo L, Giunta F, Mortini P, Pandolfo M. Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue 2007 Biochim. Biophys. Acta Jan;1772(1):15-20. IF 2,382 (2005)
  19. Lapucci C, Pomaré Montin D, Pandolfo M and Bertelli M. Combination of linkage-study and real time PCR methods for the diagnosis of the Lesch-Nyhan Sindrome carriers in the case of deletions in HPRT gene .Mol Med. 2006 Sep-Oct;12(9-10):246-51. IF 3,349 (2005)
  20. Bertelli M, Cecchin S, Fabbri A, Lapucci C, Gasparini P. Esclusion of chromosome region 22q12.1-12.3 as a second locus for Costello Syndrom. Panminerva Medica 2006 Jun;48(2):145-6. IF 0,945 (2005)
  21. Bertelli M, Cecchin S, Lapucci C, Jacomelli G, Jinnah HA, Pandolfo M, Micheli V. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). Clinica Chimica Acta 373: 104-107, 2006. IF 2,149 (2005)
  22. Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian BA and Zara F. Clinical and genetic findings in 26 italian patients with Lafora disease. Epilepsia, 47(3): 640-643, 2006 IF 3,227 (2005)
  23. de Gemmis P, Lapucci C, Bertelli M, Tognetto A, Fanin E, Vettor R, Pagano C, Pandolfo M, Fabbri A. A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells. Stem Cells Dev. 2006 Oct;15(5):719-28. IF 2,29 (2005)
  24. Bertelli M, Cecchin S, Lorusso L, Sidoti V, Fabbri A, Lapucci C, Buda A, Pandolfo M. Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paraparesis Panminerva Med. 2006 Sep;48(3):193-7. IF 0,945 (2005)
  25. Bertelli M, Gallo S, Buda A,Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M. Novel mutations in Arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. Journal of Clinical Neuroscience 2006 May; 13(4):443-8. IF 0,665 (2005)
  26. Christodoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh J, De Pergola G, Stirling H, Pannacciulli N, Sethi JK, Federspil G, Vidal-Puig A, Faraoni IG, O’Rahilly S, Vettor R. WNT10B mutations in human obesity. Diabetologia. 2006 Apr;49(4):678-84. Epub 2006 Feb 14. IF 5,337 (2005)
  27. Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA. Lafora Progressive Myoclonus Epilepsy Mutation Database-EPM2A and NHLRC1 (EMP2B) Genes. Hum. Mut. 26(4): 397-405, 2005. IF 7,923 (2005)
  28. Pagano C, Marin O, Calcagno A, Schiappelli P, Pilon C, Milan G, Bertelli M, Fanin E, Andrighetto G, Federspil G, Vettor R. Increased serum resistin in adults with prader-willi syndrome is related to obesity and not to insulin resistance. J Clin Endocrinol Metab. 2005 Jul;90(7):4335-40. IF 6,02 (2005)
  29. D’Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M. Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology. 2004 Oct 26;63(8):1500-2. IF 5,3 (2005)
  30. Gallo S, Randi D, Bertelli M, Salviati A, Pandolfo M. Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. J Neurol Neurosurg Psychiatry. 2004 Apr;75(4):655-7. IF 3,122 (2005)
  31. Bertelli M, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. J Inherit Metab Dis. 2004;27(6):767-73. IF 1,722 (2005)
  32. Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML, Vacca M, Regione FD, Piva S, Bortoluzzi S, Gasparini P. DHPLC analysis of the MECP2 gene in Italian Rett patients. Hum Mutat. 2001 Aug;18(2):132-40. IF 6,134 (2005)
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