Cioni G - Search Results

1

Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).

Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini CA, Cioni G, Antonozzi I. Leuzzi V, et al. Among authors: cioni g. Neurology. 2000 Nov 14;55(9):1407-9. doi: 10.1212/wnl.55.9.1407. Neurology. 2000. PMID: 11087795

2

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.

Carducci C, Birarelli M, Leuzzi V, Carducci C, Battini R, Cioni G, Antonozzi I. Carducci C, et al. Among authors: cioni g. Clin Chem. 2002 Oct;48(10):1772-8. Clin Chem. 2002. PMID: 12324495

3

Inborn errors of creatine metabolism and epilepsy.

Leuzzi V, Mastrangelo M, Battini R, Cioni G. Leuzzi V, et al. Among authors: cioni g. Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Epilepsia. 2013. PMID: 23157605 Free article. Review.

4

Leukoencephalopathy with bilateral anterior temporal lobe cysts: a further case of this new entity.

Battini R, Bianchi MC, Tosetti M, Guzzetta A, Cioni G. Battini R, et al. Among authors: cioni g. J Child Neurol. 2002 Oct;17(10):773-6. doi: 10.1177/08830738020170101803. J Child Neurol. 2002. PMID: 12546434

5

Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.

Battini R, Bianchi MC, Boespflug-Tanguy O, Tosetti M, Bonanni P, Canapicchi R, Cioni G. Battini R, et al. Among authors: cioni g. Arch Neurol. 2003 Feb;60(2):268-72. doi: 10.1001/archneur.60.2.268. Arch Neurol. 2003. PMID: 12580714

6

HPLC assay for guanidinoacetate methyltransferase.

Grazia Alessandrì M, Celati L, Battini R, Baldinotti F, Item C, Leuzzi V, Cioni G. Grazia Alessandrì M, et al. Among authors: cioni g. Anal Biochem. 2004 Aug 1;331(1):189-91. doi: 10.1016/j.ab.2004.05.012. Anal Biochem. 2004. PMID: 15246013 No abstract available.

7

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.

Battini R, Leuzzi V, Carducci C, Tosetti M, Bianchi MC, Item CB, Stöckler-Ipsiroglu S, Cioni G. Battini R, et al. Among authors: cioni g. Mol Genet Metab. 2002 Dec;77(4):326-31. doi: 10.1016/s1096-7192(02)00175-0. Mol Genet Metab. 2002. PMID: 12468279

8

Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study.

Bianchi MC, Tosetti M, Battini R, Leuzzi V, Alessandri' MG, Carducci C, Antonozzi I, Cioni G. Bianchi MC, et al. Among authors: cioni g. AJNR Am J Neuroradiol. 2007 Mar;28(3):548-54. AJNR Am J Neuroradiol. 2007. PMID: 17353334 Free PMC article. Clinical Trial.

9

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.

Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandri MG, Bianchi MC, Cioni G. Chilosi A, et al. Among authors: cioni g. Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821. Neurocase. 2008. PMID: 18569740

10

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G. Battini R, et al. Among authors: cioni g. J Pediatr. 2006 Jun;148(6):828-30. doi: 10.1016/j.jpeds.2006.01.043. J Pediatr. 2006. PMID: 16769397

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