Leuzzi V - Search Results

1

Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M. Marangi G, et al. Among authors: leuzzi v. Eur J Hum Genet. 2013 Feb;21(2):229-32. doi: 10.1038/ejhg.2012.79. Epub 2012 May 2. Eur J Hum Genet. 2013. PMID: 22549410 Free PMC article.

2

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

3

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.

Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G. Tabolacci E, et al. Among authors: leuzzi v. Clin Dysmorphol. 2005 Jul;14(3):127-132. Clin Dysmorphol. 2005. PMID: 15930901

4

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.

5

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.

Marangi G, Leuzzi V, Orteschi D, Grimaldi ME, Lecce R, Neri G, Zollino M. Marangi G, et al. Among authors: leuzzi v. Am J Med Genet A. 2008 Sep 15;146A(18):2313-7. doi: 10.1002/ajmg.a.32460. Am J Med Genet A. 2008. PMID: 18688873

6

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome.

Zollino M, Gurrieri F, Orteschi D, Marangi G, Leuzzi V, Neri G. Zollino M, et al. Among authors: leuzzi v. Eur J Hum Genet. 2011 Feb;19(2):239-42. doi: 10.1038/ejhg.2010.172. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119708 Free PMC article.

7

Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6.

Leuzzi V, Garavaglia B, Manti F, Bertino S, Nardocci N. Leuzzi V, et al. Mov Disord. 2014 Feb;29(2):277-8. doi: 10.1002/mds.25725. Epub 2013 Oct 22. Mov Disord. 2014. PMID: 24151230 No abstract available.

8

Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.

Leuzzi V, Mannarelli D, Manti F, Pauletti C, Locuratolo N, Carducci C, Carducci C, Vanacore N, Fattapposta F. Leuzzi V, et al. Front Pediatr. 2014 Jun 23;2:57. doi: 10.3389/fped.2014.00057. eCollection 2014. Front Pediatr. 2014. PMID: 25003100 Free PMC article.

9

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Cafiero C, et al. Among authors: leuzzi v. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712080 Free PMC article.

10

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study.

Nardecchia F, Manti F, Chiarotti F, Carducci C, Carducci C, Leuzzi V. Nardecchia F, et al. Among authors: leuzzi v. Mol Genet Metab. 2015 Jun-Jul;115(2-3):84-90. doi: 10.1016/j.ymgme.2015.04.003. Epub 2015 Apr 29. Mol Genet Metab. 2015. PMID: 25952249

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