Masciullo M - Search Results

1

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

Santoro M, Fontana L, Masciullo M, Bianchi ML, Rossi S, Leoncini E, Novelli G, Botta A, Silvestri G. Santoro M, et al. Among authors: masciullo m. Biochim Biophys Acta. 2015 Dec;1852(12):2645-52. doi: 10.1016/j.bbadis.2015.09.007. Epub 2015 Sep 21. Biochim Biophys Acta. 2015. PMID: 26391753 Free article. No abstract available.

2

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

Masciullo M, Modoni A, Fattori F, Santoro M, Denora PS, Tonali P, Santorelli FM, Silvestri G. Masciullo M, et al. J Neurol. 2008 Sep;255(9):1429-31. doi: 10.1007/s00415-008-0936-1. Epub 2008 Jul 11. J Neurol. 2008. PMID: 18604465 No abstract available.

3

Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies.

Modoni A, Masciullo M, Spinelli P, Marra C, Tartaglione T, Andreetta F, Tonali P, Silvestri G. Modoni A, et al. Among authors: masciullo m. Cogn Behav Neurol. 2009 Mar;22(1):63-6. doi: 10.1097/WNN.0b013e318190d195. Cogn Behav Neurol. 2009. PMID: 19372772

4

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

Silvestri G, Masciullo M, Piane M, Savio C, Modoni A, Santoro M, Chessa L. Silvestri G, et al. Among authors: masciullo m. J Neurol. 2010 Oct;257(10):1738-40. doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18. J Neurol. 2010. PMID: 20480175 No abstract available.

5

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

Santoro M, Modoni A, Masciullo M, Gidaro T, Broccolini A, Ricci E, Tonali PA, Silvestri G. Santoro M, et al. Among authors: masciullo m. Exp Mol Pathol. 2010 Oct;89(2):158-68. doi: 10.1016/j.yexmp.2010.05.007. Epub 2010 Jun 1. Exp Mol Pathol. 2010. PMID: 20685272

6

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. 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

7

Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy.

Masciullo M, Modoni A, Bianchi ML, De Carolis S, Silvestri G. Masciullo M, et al. Eur J Obstet Gynecol Reprod Biol. 2011 Nov;159(1):237-8. doi: 10.1016/j.ejogrb.2011.06.040. Epub 2011 Jul 14. Eur J Obstet Gynecol Reprod Biol. 2011. PMID: 21757286 No abstract available.

8

Muscle MRI in female carriers of dystrophinopathy.

Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Silvestri G, Masciullo M, Mirabella M, Servidei S, Ricci E. Tasca G, et al. Among authors: masciullo m. Eur J Neurol. 2012 Sep;19(9):1256-60. doi: 10.1111/j.1468-1331.2012.03753.x. Epub 2012 May 15. Eur J Neurol. 2012. PMID: 22583668

9

Prefrontal cortex controls human balance during overground ataxic gait.

Caliandro P, Masciullo M, Padua L, Simbolotti C, Di Sante G, Russo G, Garattini C, Silvestri G, Rossini PM. Caliandro P, et al. Among authors: masciullo m. Restor Neurol Neurosci. 2012;30(5):397-405. doi: 10.3233/RNN-2012-120239. Restor Neurol Neurosci. 2012. PMID: 22751355

10

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the time of next-generation sequencing.

Silvestri G, Masciullo M, Santorelli FM. Silvestri G, et al. Among authors: masciullo m. Arch Neurol. 2012 Dec;69(12):1661; author reply 1661-2. doi: 10.1001/2013.jamaneurol.70. Arch Neurol. 2012. PMID: 23229046 No abstract available.

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