Leuzzi V - Search Results

1

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: leuzzi v. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.

2

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Leuzzi V, Bertini E, De Negri AM, Gallucci M, Garavaglia B. Leuzzi V, et al. J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):16-9. doi: 10.1136/jnnp.55.1.16. J Neurol Neurosurg Psychiatry. 1992. PMID: 1548491 Free PMC article.

3

The development of auditory and visual evoked potentials in early treated phenylketonuric children.

Cardona F, Leuzzi V, Antonozzi I, Benedetti P, Loizzo A. Cardona F, et al. Among authors: leuzzi v. Electroencephalogr Clin Neurophysiol. 1991 Jan-Feb;80(1):8-15. doi: 10.1016/0168-5597(91)90036-w. Electroencephalogr Clin Neurophysiol. 1991. PMID: 1703954

4

Visual, auditory, and somatosensorial evoked potentials in early and late treated adolescents with phenylketonuria.

Leuzzi V, Cardona F, Antonozzi I, Loizzo A. Leuzzi V, et al. J Clin Neurophysiol. 1994 Nov;11(6):602-6. doi: 10.1097/00004691-199411000-00006. J Clin Neurophysiol. 1994. PMID: 7860722

5

Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.

Leuzzi V, Rinna A, Gallucci M, Di Capua M, Dionisi-Vici C, Longo D, Bertini E. Leuzzi V, et al. Neurology. 2000 Jun 27;54(12):2325-8. doi: 10.1212/wnl.54.12.2325. Neurology. 2000. PMID: 10881263

6

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

7

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM. Grieco GS, et al. Among authors: leuzzi v. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707

8

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.

Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: leuzzi v. Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173. Neurology. 2010. PMID: 20956791

9

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C. Vingolo EM, et al. Among authors: leuzzi v. Eur J Neurol. 2011 Sep;18(9):1187-90. doi: 10.1111/j.1468-1331.2010.03335.x. Epub 2011 Jan 25. Eur J Neurol. 2011. PMID: 21410841

10

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Libernini L, Lupis C, Mastrangelo M, Carrozzo R, Santorelli FM, Inghilleri M, Leuzzi V. Libernini L, et al. Among authors: leuzzi v. Neuropediatrics. 2012 Aug;43(4):201-8. doi: 10.1055/s-0032-1315431. Epub 2012 May 22. Neuropediatrics. 2012. PMID: 22618301

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