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Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B. Savarese M, et al. Among authors: nigro v. Neurol Genet. 2021 Aug 10;7(5):e619. doi: 10.1212/NXG.0000000000000619. eCollection 2021 Oct. Neurol Genet. 2021. PMID: 34386585 Free PMC article.
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.
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.
Enhancer chip: detecting human copy number variations in regulatory elements.
Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V. Savarese M, et al. Among authors: nigro v. PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub 2012 Dec 20. PLoS One. 2012. PMID: 23284961 Free PMC article.
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Torella A, et al. Among authors: nigro v. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 Free PMC article.
Familial trisomy 6p in mother and daughter.
Savarese M, Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G, Piluso G, Perrone L, del Giudice EM, Nigro V. Savarese M, et al. Among authors: nigro v. Am J Med Genet A. 2013 Jul;161A(7):1675-81. doi: 10.1002/ajmg.a.35928. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23687068
323 results