Nigro V - Search Results

1

A new family with transportinopathy: increased clinical heterogeneity.

Angelini C, Marozzo R, Pinzan E, Pegoraro V, Molnar MJ, Torella A, Nigro V. Angelini C, et al. Among authors: nigro v. Ther Adv Neurol Disord. 2019 Jun 9;12:1756286419850433. doi: 10.1177/1756286419850433. eCollection 2019. Ther Adv Neurol Disord. 2019. PMID: 31217819 Free PMC article.

2

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C. Fulizio L, et al. Among authors: nigro v. Hum Mutat. 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. Hum Mutat. 2005. PMID: 15580566

3

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

Trimarco A, Torella A, Piluso G, Maria Ventriglia V, Politano L, Nigro V. Trimarco A, et al. Among authors: nigro v. Clin Chem. 2008 Jun;54(6):973-81. doi: 10.1373/clinchem.2007.097881. Epub 2008 Apr 10. Clin Chem. 2008. PMID: 18403565

4

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.

Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C. Fanin M, et al. Among authors: nigro v. Neurology. 2009 Apr 21;72(16):1432-5. doi: 10.1212/WNL.0b013e3181a1885e. Neurology. 2009. PMID: 19380703

5

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella A, Trimarco A, Blanco Fdel V, Cuomo A, Aurino S, Piluso G, Minetti C, Politano L, Nigro V. Torella A, et al. Among authors: nigro v. J Mol Diagn. 2010 Jan;12(1):65-73. doi: 10.2353/jmoldx.2010.090074. Epub 2009 Dec 3. J Mol Diagn. 2010. PMID: 19959795 Free PMC article.

6

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V. Cacciottolo M, et al. Among authors: nigro v. Eur J Hum Genet. 2011 Sep;19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522182 Free PMC article.

7

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.

Piluso G, Dionisi M, Del Vecchio Blanco F, Torella A, Aurino S, Savarese M, Giugliano T, Bertini E, Terracciano A, Vainzof M, Criscuolo C, Politano L, Casali C, Santorelli FM, Nigro V. Piluso G, et al. Among authors: nigro v. Clin Chem. 2011 Nov;57(11):1584-96. doi: 10.1373/clinchem.2011.168898. Epub 2011 Sep 6. Clin Chem. 2011. PMID: 21896784 Free article.

8

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E. Bello L, et al. Among authors: nigro v. Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549409 Free PMC article.

9

Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.

Angelini C, Grisold W, Nigro V. Angelini C, et al. Among authors: nigro v. Acta Myol. 2011 Dec;30(3):185-7. Acta Myol. 2011. PMID: 22616201 Free PMC article.

10

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

Peterle E, Fanin M, Semplicini C, Padilla JJ, Nigro V, Angelini C. Peterle E, et al. Among authors: nigro v. J Neurol. 2013 Aug;260(8):2033-41. doi: 10.1007/s00415-013-6931-1. Epub 2013 Apr 30. J Neurol. 2013. PMID: 23632945

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