Foundation B.I.R.D. Europe onlus
 

                                             LE PUBBLICAZIONI

Pubblicazioni Scientifiche:

  1. 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;18(2):132-40.
  2. 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.
  3. 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 ;75(4):655-7.
  4. 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;63(8):1500-2.
  5. 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; 90(7):4335-40.
  6. 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. 2005, 26(4): 397-405.
  7. Christodoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh J, De Pergola G, Stirling H, Panna cciulli N, Sethi JK, Federspil G, Vidal-Puig A, Faraoni IG, O’Rahilly S, Vettor R. WNT10B mutations in human obesity. Diabetologia. 2006 ;49(4):678-84.
  8. 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; 13(4):443-8.
  9. 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;48(3):193-7.
  10. 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;15(5):719-28.
  11. 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. 2006.Epilepsia, 47(3): 640-643,
  12. 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 2006, 373: 104-107.
  13. 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; 48(2):145-6.
  14. 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;12(9-10):246-51.
  15. 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 Biochim. Biophys. Acta 2007; 1772(1):15-20.
  16. 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 Neurology 2007, 68(13):975-6.
  17. 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
  18. 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.

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