Last update: July 2008
Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandri MG, Bianchi MC, Cioni G. Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase. 2008;14(2):151-61 PMID: 18569740
Battini R, Chilosi A, Mei D, Casarano M, Alessandrì MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. Am J Med Genet A 2007;143(15):1771-4. PMID: 17603797
Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R. Severe epilepsy in X-linked creatine transporter defect (CRTR-D). Epilepsia. 2007;48(6):1211-3. PMID: 17553121
Bianchi MC, Tosetti M, Battini R, Leuzzi V, Alessandrì MG, Carducci C, Antonozzi I, Cioni G. Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study Am J Neuroradiol 2007 Mar;28(3):548-54. PMID:17353334
Perasso L., Lunardi G, Risso F., Pohvozcheva A.V., Leko MV, Gandolfo C., Florio T., Cupello A., Balestrino M Protective Effects of Some Creatine Derivatives in Brain Tissue Anoxia. Neurochem Res. 2007 Oct 17; [Epub ahead of print] PMID: 17940889
Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Adami A, Appleton R, Araujo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Muhl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 2006;67(3):480-4. Epub 2006 Jul 19. PMID:16855203
Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G. Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr. 2006;148(6):828-30. PMID:16769397
Leuzzi V, Carducci CA, Carducci Cl, Matricardi M, Bianchi MC, Di Sabato M L, Artiola C, Antonozzi I. A Mutation on exon 6 of Guanidinoacetate metyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. Mol Genet Metab 2006; 87:88-90. PMID:16293431
Carducci C, Santagata S, Leuzzi V, Carducci C, Artiola C, Giovanniello T, Battini R, Antonozzi I. Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry. Clin Chim Acta 2006;364(1-2):180-7. Epub 2005 Sep 28. PMID:16197934
Schulze A, Battini R Presyntomatic treatment of creatine byosinthesis defect In: Creatine and Creatinekinase in health and Disease, ed. G. Salomons and M. Wyss, Springer-Verlag, Netherland, 2006
Lensman M, Korzhevskii DE, Mourovets VO, Kostkin VB, Izvarina N, Perasso L, Gandolfo C, Otellin VA, Polenov SA, Balestrino M. Intracerebroventricular administration of creatine protects against damage by global cerebral ischemia in rat. Brain Re. 2006 Oct 9;1114(1):187-94. Epub 2006 Sep 1. PMID:16949559
Lunardi G, Parodi A, Perasso L, Pohvozcheva AV, Scarrone S, Adriano E, Florio T, Gandolfo C, Cupello A, Burov SV, Balestrino M. The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compounds. Neuroscience 2006;142(4):991-7. Epub 2006 Sep 1. PMID:16949212
Schiaffino MC, Bellini C, Costabello L, Caruso U, Jakobs C, Salomons GS, Bonioli E. X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation Neurogenetics 2005;6(3):165-8. Epub 2005 Sep 28. PMID: 16086185
Alessandrì MG, Celati L, Battini R, Casarano M, Cioni G GC/MS assay for arginine:glycine-amidino transferase deficiency Analytical Biochemistry 2005; 343(2): 356-8
Stockler-Ipsiroglu S, Battini R, de Grauw T, Schulze A Disorders of Creatine Metabolism In: N. Blau, G.F. Hoffmann, J. Leonard, J.T. R. Clarke (eds) Physician Guide to the treatment and follow-up of metabolic diseases. Springer-Verlag NY, pag. 255-265, 2005
Korzhevskii DE, Otellin VA, Grigor'ev IP, Kostkin VB, Polenov SA, Lentsman MV, Balestrino M. Structural organization of astrocytes in the rat hippocampus in the post-ischemic period. Neurosci Behav Physiol. 2005 May;35(4):389-92. PMID: 15929566
Battini R, Tosetti M, Canapicchi R La Risonanza magnetica. Le applicazioni dell'imaging avanzato In: Neuropsichiatria dell'età evolutiva M. De Negri. Ed. Piccin, Chap 2/2B, pp.17-39, 2004
Item CB, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Muhl A, Vilaseca MA, Korall H, Stockler-Ipsiroglu S Characterization of seven novel mutations in seven patients with GAMT deficiency Hum Mutation 2004; 709:1-7
Alessandrì MG, Celati L, Battini R, Baldinotti F, Item CB, Leuzzi V, Cioni G HPLC assay for guanidinoacetate methyltransferase Analytical Biochemistry 2004; 331:189-191
Korzhevskii DE, Otellin VA, Grigor'ev IP, Kostkin VB, Polenov SA, Lentsman MV, Balestrino M. Structural characteristics of astrocytes from the rat hippocampus in postischemia Morfologiia 2004;125(2):19-21 PMID: 15232865
Zapara TA, Simonova OG, Zharkikh AA, Balestrino M, Ratushniak AS. Seasonal differences and protection by creatine or arginine pretreatment in ischemia of mammalian and molluscan neurons in vitro Brain Res 2004;1015(1-2):41-9. PMID: 15223365
Verhoeven M, Schor DSM, Roos B, Battini R, Stockler-Ipsiroglu S, Salomons GS, Jacobs C Diagnostic Enzyme assay that uses stable-isotope-labeled substrates to detect L-Arginine:glycine amidinotransferase deficiency Clin Chem 2003; 49: 5
Otellin VA, Korzhevskii DE, Kostkin VB, Balestrino M, Lensman MV, Polenov SA The neuroprotective effect of creatine in rats with cerebral ischemia Dokl Biol Sci 2003; 390: 197-199
Parodi M, Rebaudo R, Perasso L, Gandolfo C, Cupello A, Balestrino M Effects of exogenous creatine on population spike amplitude and on postanoxic hyperexcitability in brain slices Brain Research 2003; 963: 197-202
Perasso L, Cupello A, Lunardi GL, Principato C, Gandolfo C, Balestrino M Kinetics of creatine in blood and brain after intraperitoneal injection in the rat Brain Research 2003; 974: 37-42
Bianchi MC, Lezzi V, Tosetti M, Battini R, Alessandrì MG, Canapicchi R, Cioni G GAMT vs. non-GAMT brain creatine depletions: clinical, biochemical, brain magnetic resonance imaging and proton spectroscopy features In: T. Kekelidze and D. Holtzman (Eds.) Creatine Kinase and Brain Energy Metabolism. Function and Disease. IOS Press, Ohmsha, NATO Science Series, pp. 135-143, 2003
Leuzzi V Inborn errors of creatine metabolism and epilepsy: clinical features,diagnosis, and treatment. J Child Neurol 2002;17 Suppl 3:3S89-97; discussion 3S97. Review. PMID: 12597058
Battini R, Leuzzi V, Carducci C, Tosetti M, Bianchi MC, Item CB, Stockler-Ipsiroglu S, Cioni G Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab 2002;77(4):326-31. PMID:12468279
Carducci C, Birarelli M, Leuzzi V, Carducci C, Battini R, Cioni G, Antonozzi I Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies. Clin Chem 2002;48(10):1772-8. PMID:12324495
Item CB, Stromberger C, Muhl A, Edlinger C, Bodamer OA, Schulze A, Surtees R, Leuzzi V, Salomons GS, Jakobs C, Stockler-Ipsiroglu S Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem. 2002 May;48(5):767-9
Balestrino M, Lensman M, Parodi M, Perasso L, Rebaudo R, Melani R, Polenov S, Cupello A Role of creatine and phosphocreatine in neuronal protection from anoxic and ischemic damage Amino Acids 2002; 23(1-3):221-9 Review PMID: 12373542
Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G. Arginine: glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 2001 Nov;69(5):1127-33. Epub 2001 Sep 10. PMID: 11555793
Carducci C, Birarelli M, Santagata P, Leuzzi V, Carducci C, Antonozzi I. Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency. J Chromatogr B Biomed Sci Appl 2001 May 5;755(1-2):343-8 PMID:11393723
Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I. Two new severe mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab 2000 Dec;71(4):633-8. PMID: 11136556
Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini CA, Cioni G, Antonozzi I. Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology 2000 Nov 14;55(9):1407-9. PMID: 11087795
Leuzzi V, Bianchi MC, Tosetti M, Carducci CL, Carducci CA, Antonozzi I. Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J Inherit Metab Dis 2000 Sep;23(6):563-70. PMID: 11032331
Bianchi MC, Tosetti M, Fornai F, Alessandrì MG, Cipriani P, De Vito G et al. Reversible brain creatine deficiency in two sisters with normal blood creatine level Ann Neurol 2000; 47: 511-513 PMID:10762163
Canapicchi R, Battini R, Bianchi MC, Tosetti M, Montanaro D, Cioni G La Spettroscopia Protonica a Risonanza Magnetica nella patologia neurologica dell'età evolutiva Giornale di Neuropsichiatria dell' Et&agave; Evolutiva 2000; 20(3)301-324
Rebaudo R, Melani R, Carita F, Rosi L, Picchio V, Ruggeri P, Izvarina N, Balestrino M. Increase of cerebral phosphocreatine in normal rats after intracerebroventricular administration of creatine Neurochem Res 2000 Nov;25(11):1493-5 PMID: 11071368
Balestrino M, Rebaudo R, Lunardi G. Exogenous creatine delays anoxic depolarization and protects from hypoxic damage: dose-effect relationship Brain Res 1999; 816(1):124-130. PMID: 9878706
Di Loreto S, Balestrino M. Development of vulnerability to hypoxic damage in in vitro hippocampal neurons Int J Dev Neurosci 1997 Apr; 15(2):225-30 PMID: 9178040
Balestrino M. Pathophysiology of anoxic depolarization: new findings and a working hypothesis J Neurosci Methods 1995 Jun; 59(1):99-103 PMID: 7475257
Thanks to Mrs. Stefania Bertoni, Genova for technical assistance