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247 results

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Page 1
Mutation update for the ACTN2 gene.
Ranta-Aho J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Böhm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: savarese m. Hum Mutat. 2022 Dec;43(12):1745-1756. doi: 10.1002/humu.24470. Epub 2022 Sep 27. Hum Mutat. 2022. PMID: 36116040 Free PMC article. Review.
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: savarese m. 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.
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. 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: savarese m. 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 polyglucosan body myopathy with unusual phenotype.
Fanin M, Nascimbeni AC, Savarese M, Papa V, Cenacchi G, Nigro V, Angelini C. Fanin M, et al. Among authors: savarese m. Neuropathol Appl Neurobiol. 2015 Apr;41(3):385-90. doi: 10.1111/nan.12171. Neuropathol Appl Neurobiol. 2015. PMID: 25041762 No abstract available.
Dominant muscular dystrophy with a novel SYNE1 gene mutation.
Fanin M, Savarese M, Nascimbeni AC, Di Fruscio G, Pastorello E, Tasca E, Trevisan CP, Nigro V, Angelini C. Fanin M, et al. Among authors: savarese m. Muscle Nerve. 2015 Jan;51(1):145-7. doi: 10.1002/mus.24357. Epub 2014 Nov 24. Muscle Nerve. 2015. PMID: 25091525 No abstract available.
247 results