Mazzei R - Search Results

1

Colaianni V, Mazzei R, Cavallaro S. Colaianni V, et al. Among authors: mazzei r. Neurol Sci. 2016 Dec;37(12):1895-1904. doi: 10.1007/s10072-016-2658-y. Epub 2016 Jul 8. Neurol Sci. 2016. PMID: 27393281 Free PMC article. Review.

2

Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.

Mazzei R, Ungaro C, Garreffa G, Conforti FL, Mollo A, Sprovieri T, Servillo P, Blasi V, Gallo O, Cerasa A, Lanza PL, Quattrone A. Mazzei R, et al. Neurol Sci. 2011 Feb;32(1):95-9. doi: 10.1007/s10072-010-0416-0. Epub 2010 Sep 22. Neurol Sci. 2011. PMID: 20859647

3

Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

Ungaro C, Mazzei R, Sprovieri T. Ungaro C, et al. Among authors: mazzei r. Neurol Sci. 2019 Jan;40(1):207-208. doi: 10.1007/s10072-018-3567-z. Epub 2018 Sep 14. Neurol Sci. 2019. PMID: 30218396 No abstract available.

4

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele AL, Sprovieri T, Citrigno L, Conforti FL, Liguori M, Gambardella A, Bono F, Piccoli T, Patti F, Zappia M, Mancuso M, Iemolo F, Quattrone A. Magariello A, et al. Among authors: mazzei r. J Neurol Sci. 2010 Jan 15;288(1-2):96-100. doi: 10.1016/j.jns.2009.09.025. Epub 2009 Oct 28. J Neurol Sci. 2010. PMID: 19875132

5

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

Magariello A, Russo C, Citrigno L, Züchner S, Patitucci A, Mazzei R, Conforti FL, Ferlazzo E, Aguglia U, Muglia M. Magariello A, et al. Among authors: mazzei r. J Neurol Sci. 2017 Jan 15;372:347-349. doi: 10.1016/j.jns.2016.11.069. Epub 2016 Dec 5. J Neurol Sci. 2017. PMID: 28017243 No abstract available.

6

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.

Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A. Muglia M, et al. Among authors: mazzei r. J Neurol Sci. 2007 Dec 15;263(1-2):194-7. doi: 10.1016/j.jns.2007.05.034. Epub 2007 Aug 20. J Neurol Sci. 2007. PMID: 17707409

7

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

Muglia M, Citrigno L, D'Errico E, Magariello A, Distaso E, Gasparro AA, Scarafino A, Patitucci A, Conforti FL, Mazzei R, Cortese R, Tortelli R, Simone IL. Muglia M, et al. Among authors: mazzei r. J Neurol Sci. 2014 Aug 15;343(1-2):218-20. doi: 10.1016/j.jns.2014.05.063. Epub 2014 Jun 5. J Neurol Sci. 2014. PMID: 24939576

8

Notch3 protein expression in skin fibroblasts from CADASIL patients.

Qualtieri A, Ungaro C, Bagalà A, Bianchi S, Pantoni L, Moccia M, Mazzei R. Qualtieri A, et al. Among authors: mazzei r. J Neurol Sci. 2018 Jul 15;390:121-128. doi: 10.1016/j.jns.2018.04.027. Epub 2018 Apr 19. J Neurol Sci. 2018. PMID: 29801872

9

SMN1 gene copy number analyses for SMA healthy carriers in Italian population.

Patitucci A, Magariello A, Ungaro C, Muglia M, Conforti FL, Gabriele AL, Citrigno L, Sproviero W, Mazzei R. Patitucci A, et al. Among authors: mazzei r. J Pediatr Genet. 2012 Jun;1(2):99-102. doi: 10.3233/PGE-2012-017. J Pediatr Genet. 2012. PMID: 27625809 Free PMC article.

10

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Ungaro C, Mazzei R, Conforti FL, Sprovieri T, Servillo P, Liguori M, Citrigno L, Gabriele AL, Magariello A, Patitucci A, Muglia M, Quattrone A. Ungaro C, et al. Among authors: mazzei r. J Neurosci Res. 2009 Apr;87(5):1162-7. doi: 10.1002/jnr.21935. J Neurosci Res. 2009. PMID: 19006080

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