Casarano M - Search Results

1

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

Battini R, Chilosi A, Mei D, Casarano M, Alessandrì MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G. Battini R, et al. Among authors: casarano m. Am J Med Genet A. 2007 Aug 1;143A(15):1771-4. doi: 10.1002/ajmg.a.31827. Am J Med Genet A. 2007. PMID: 17603797

2

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

Battini R, Chilosi AM, Casarano M, Moro F, Comparini A, Alessandrì MG, Leuzzi V, Tosetti M, Cioni G. Battini R, et al. Among authors: casarano m. Mol Genet Metab. 2011 Feb;102(2):153-6. doi: 10.1016/j.ymgme.2010.11.005. Epub 2010 Nov 13. Mol Genet Metab. 2011. PMID: 21144783

3

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: casarano m. Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821. Neurocase. 2008. PMID: 18569740

4

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

Chilosi A, Casarano M, Comparini A, Battaglia FM, Mancardi MM, Schiaffino C, Tosetti M, Leuzzi V, Battini R, Cioni G. Chilosi A, et al. Among authors: casarano m. Orphanet J Rare Dis. 2012 Jun 19;7:43. doi: 10.1186/1750-1172-7-43. Orphanet J Rare Dis. 2012. PMID: 22713831 Free PMC article.

5

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts.

Leuzzi V, Alessandrì MG, Casarano M, Battini R, Cioni G. Leuzzi V, et al. Among authors: casarano m. Anal Biochem. 2008 Apr 1;375(1):153-5. doi: 10.1016/j.ab.2008.01.018. Epub 2008 Jan 18. Anal Biochem. 2008. PMID: 18258176

6

Cognitive, adaptive, and behavioral features in Joubert syndrome.

Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D. Bulgheroni S, et al. Among authors: casarano m. Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27530364

7

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.

Battini R, Alessandrì MG, Casalini C, Casarano M, Tosetti M, Cioni G. Battini R, et al. Among authors: casarano m. Orphanet J Rare Dis. 2017 Feb 2;12(1):21. doi: 10.1186/s13023-017-0577-5. Orphanet J Rare Dis. 2017. PMID: 28148286 Free PMC article.

8

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

Casarano M, Alessandrì MG, Salomons GS, Moretti E, Jakobs C, Gibson KM, Cioni G, Battini R. Casarano M, et al. JIMD Rep. 2012;2:119-23. doi: 10.1007/8904_2011_60. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430864 Free PMC article.

9

Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency.

Alessandrì MG, Celati L, Battini R, Casarano M, Cioni G. Alessandrì MG, et al. Among authors: casarano m. Anal Biochem. 2005 Aug 15;343(2):356-8. doi: 10.1016/j.ab.2005.05.003. Anal Biochem. 2005. PMID: 15978539 No abstract available.

10

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G. Battini R, et al. Among authors: casarano m. BMC Med Genet. 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0. BMC Med Genet. 2015. PMID: 26204956 Free PMC article.

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