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170 results
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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
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.
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.
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V. Savarese M, et al. Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30. Neuromuscul Disord. 2015. PMID: 25891276 Free PMC article.
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