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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.
PLoS One. 2015 Oct 29;10(10):e0141240. doi: 10.1371/journal.pone.0141240. eCollection 2015.
PLoS One. 2015.
PMID: 26513582
Free PMC article.
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V.
Savarese M, et al. Among authors: picillo e.
Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9.
Neuromuscul Disord. 2018.
PMID: 29880332
Free article.
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TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.
Astrea G, Pezzini I, Picillo E, Pasquariello R, Moro F, Ergoli M, D'Ambrosio P, D'Amico A, Politano L, Santorelli FM.
Astrea G, et al. Among authors: picillo e.
Neuromuscul Disord. 2016 Jul;26(7):459-61. doi: 10.1016/j.nmd.2016.05.003. Epub 2016 May 5.
Neuromuscul Disord. 2016.
PMID: 27212206
Free PMC article.
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