Nanetti L - Search Results

1

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

Gatti M, Magri S, Di Bella D, Sarto E, Taroni F, Mariotti C, Nanetti L. Gatti M, et al. Among authors: nanetti l. Neurol Sci. 2021 Nov;42(11):4741-4745. doi: 10.1007/s10072-021-05463-0. Epub 2021 Jul 12. Neurol Sci. 2021. PMID: 34251556 Review.

2

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature.

Nanetti L, Fancellu R, Tomasello C, Gellera C, Pareyson D, Mariotti C. Nanetti L, et al. J Neurol. 2009 Nov;256(11):1926-8. doi: 10.1007/s00415-009-5237-9. Epub 2009 Jul 31. J Neurol. 2009. PMID: 19644730 Review.

3

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.

Marchesi C, Ciano C, Salsano E, Nanetti L, Milani M, Gellera C, Taroni F, Fabrizi GM, Uncini A, Pareyson D. Marchesi C, et al. Among authors: nanetti l. Neuromuscul Disord. 2011 Feb;21(2):129-31. doi: 10.1016/j.nmd.2010.09.009. Epub 2010 Oct 14. Neuromuscul Disord. 2011. PMID: 20951041

4

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu.

Salsano E, Fancellu R, Di Fede G, Ciano C, Scaioli V, Nanetti L, Politi LS, Tagliavini F, Mariotti C, Pareyson D. Salsano E, et al. Among authors: nanetti l. J Neurol Sci. 2011 Mar 15;302(1-2):85-8. doi: 10.1016/j.jns.2010.11.019. Epub 2010 Dec 16. J Neurol Sci. 2011. PMID: 21167505

5

Choice-option evaluation is preserved in early Huntington and Parkinson's disease.

Minati L, Piacentini S, Ferrè F, Nanetti L, Romito L, Mariotti C, Grisoli M, Medford N, Critchley HD, Albanese A. Minati L, et al. Among authors: nanetti l. Neuroreport. 2011 Oct 26;22(15):753-7. doi: 10.1097/WNR.0b013e32834acb6e. Neuroreport. 2011. PMID: 21876465

6

Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial.

Mariotti C, Fancellu R, Caldarazzo S, Nanetti L, Di Bella D, Plumari M, Lauria G, Cappellini MD, Duca L, Solari A, Taroni F. Mariotti C, et al. Among authors: nanetti l. Mov Disord. 2012 Mar;27(3):446-9. doi: 10.1002/mds.24066. Epub 2012 Jan 4. Mov Disord. 2012. PMID: 22411849 Clinical Trial.

7

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Gellera C, Ticozzi N, Pensato V, Nanetti L, Castucci A, Castellotti B, Lauria G, Taroni F, Silani V, Mariotti C. Gellera C, et al. Among authors: nanetti l. Neurobiol Aging. 2012 Aug;33(8):1847.e15-21. doi: 10.1016/j.neurobiolaging.2012.02.004. Epub 2012 Mar 16. Neurobiol Aging. 2012. PMID: 22425256

8

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network; Nguyen HP. Metzger S, et al. PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013. PLoS One. 2013. PMID: 23894380 Free PMC article.

9

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C. Nanetti L, et al. Orphanet J Rare Dis. 2013 Aug 14;8:123. doi: 10.1186/1750-1172-8-123. Orphanet J Rare Dis. 2013. PMID: 23941260 Free PMC article.

10

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hübsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Tezenas du Montcel S, et al. Among authors: nanetti l. J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29. J Med Genet. 2014. PMID: 24780882 Free PMC article.

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