Leuzzi V - Search Results

1

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

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

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

4

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

5

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

6

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

7

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

8

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Mastrangelo M, Sartori S, Simonati A, Brinciotti M, Moro F, Nosadini M, Pezzini F, Doccini S, Santorelli FM, Leuzzi V. Mastrangelo M, et al. Among authors: leuzzi v. Eur J Med Genet. 2019 Dec;62(12):103591. doi: 10.1016/j.ejmg.2018.11.025. Epub 2018 Nov 27. Eur J Med Genet. 2019. PMID: 30500434

9

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: leuzzi v. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.

10

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ₁₀ deficiency in muscle or skin fibroblasts.

Mero S, Salviati L, Leuzzi V, Rubegni A, Calderan C, Nardecchia F, Galatolo D, Desbats MA, Naef V, Gemignani F, Novelli M, Tessa A, Battini R, Santorelli FM, Marchese M. Mero S, et al. Among authors: leuzzi v. J Neurol. 2021 Sep;268(9):3381-3389. doi: 10.1007/s00415-021-10509-6. Epub 2021 Mar 11. J Neurol. 2021. PMID: 33704555

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