Modoni A - Search Results

1

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.

Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G. Masciullo M, et al. Among authors: modoni a. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S355-61. doi: 10.1007/s10545-010-9186-3. Epub 2010 Sep 4. J Inherit Metab Dis. 2010. PMID: 20821051

2

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

Silvestri G, Mongini T, Odoardi F, Modoni A, deRosa G, Doriguzzi C, Palmucci L, Tonali P, Servidei S. Silvestri G, et al. Among authors: modoni a. Neurology. 2000 Apr 25;54(8):1693-6. doi: 10.1212/wnl.54.8.1693. Neurology. 2000. PMID: 10762520

3

Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.

Silvestri G, Rana M, Odoardi F, Modoni A, Paris E, Papacci M, Tonali P, Servidei S. Silvestri G, et al. Among authors: modoni a. Am J Med Genet. 2000 Sep 18;94(3):201-6. doi: 10.1002/1096-8628(20000918)94:3<201::aid-ajmg5>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10995506

4

Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions.

Odoardi F, Rana M, Broccolini A, Mirabella M, Modoni A, D'Amico A, Papacci M, Tonali P, Servidei S, Silvestri G. Odoardi F, et al. Among authors: modoni a. Am J Med Genet A. 2003 Apr 30;118A(3):247-54. doi: 10.1002/ajmg.a.20006. Am J Med Genet A. 2003. PMID: 12673655

5

Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.

Modoni A, Silvestri G, Pomponi MG, Mangiola F, Tonali PA, Marra C. Modoni A, et al. Arch Neurol. 2004 Dec;61(12):1943-7. doi: 10.1001/archneur.61.12.1943. Arch Neurol. 2004. PMID: 15596617

6

Evidence of white matter involvement in SCA 7.

Masciullo M, Modoni A, Pomponi MG, Tartaglione T, Falsini B, Tonali P, Silvestri G. Masciullo M, et al. Among authors: modoni a. J Neurol. 2007 Apr;254(4):536-8. doi: 10.1007/s00415-006-0274-0. Epub 2006 Sep 19. J Neurol. 2007. PMID: 16988791 No abstract available.

7

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients.

Modoni A, Contarino MF, Bentivoglio AR, Tabolacci E, Santoro M, Calcagni ML, Tonali PA, Neri G, Silvestri G. Modoni A, et al. Mov Disord. 2007 Feb 15;22(3):324-7. doi: 10.1002/mds.21228. Mov Disord. 2007. PMID: 17149720

8

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy.

Modoni A, Mirabella M, Madia F, Sanna T, Lanza G, Tonali PA, Silvestri G. Modoni A, et al. Neurology. 2007 Jan 9;68(2):161-2. doi: 10.1212/01.wnl.0000251194.82212.75. Neurology. 2007. PMID: 17210903 No abstract available.

9

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

Santoro M, Modoni A, Sabatelli M, Madia F, Piemonte F, Tozzi G, Ricci E, Tonali PA, Silvestri G. Santoro M, et al. Among authors: modoni a. Mol Genet Metab. 2007 May;91(1):111-4. doi: 10.1016/j.ymgme.2006.12.004. Epub 2007 Jan 23. Mol Genet Metab. 2007. PMID: 17251047

10

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E, Tonali PA, Ricci E. Pescatori M, et al. Among authors: modoni a. FASEB J. 2007 Apr;21(4):1210-26. doi: 10.1096/fj.06-7285com. Epub 2007 Jan 30. FASEB J. 2007. PMID: 17264171

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