Leuzzi V - Search Results

1

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Among authors: leuzzi v. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529

2

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. Neurology. 2000 Nov 14;55(9):1407-9. doi: 10.1212/wnl.55.9.1407. Neurology. 2000. PMID: 11087795

3

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Lesca G, et al. Among authors: leuzzi v. Neurology. 2003 Feb 25;60(4):674-82. doi: 10.1212/01.wnl.0000048207.28790.25. Neurology. 2003. PMID: 12601111

4

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

Leuzzi V, Di Sabato ML, Zollino M, Montanaro ML, Seri S. Leuzzi V, et al. Neurology. 2004 Nov 23;63(10):1968-70. doi: 10.1212/01.wnl.0000144350.97844.94. Neurology. 2004. PMID: 15557528

5

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: leuzzi v. J Pediatr. 2006 Jun;148(6):828-30. doi: 10.1016/j.jpeds.2006.01.043. J Pediatr. 2006. PMID: 16769397

6

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: leuzzi v. 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

7

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. 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

8

Movement disorder-childhood rating scale: reliability and validity.

Battini R, Sgandurra G, Petacchi E, Guzzetta A, Di Pietro R, Giannini MT, Leuzzi V, Mercuri E, Cioni G. Battini R, et al. Among authors: leuzzi v. Pediatr Neurol. 2008 Oct;39(4):259-65. doi: 10.1016/j.pediatrneurol.2008.07.002. Pediatr Neurol. 2008. PMID: 18805364 Clinical Trial.

9

Scale for evaluation of movement disorders in the first three years of life.

Battini R, Guzzetta A, Sgandurra G, Di Pietro R, Petacchi E, Mercuri E, Giannini MT, Leuzzi V, Cioni G. Battini R, et al. Among authors: leuzzi v. Pediatr Neurol. 2009 Apr;40(4):258-64. doi: 10.1016/j.pediatrneurol.2008.11.003. Pediatr Neurol. 2009. PMID: 19302937

10

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Among authors: leuzzi v. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.

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