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789 results

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Page 1
microRNAs as biomarkers in Pompe disease.
Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G. Tarallo A, et al. Among authors: santoro l. Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997386 Free article.
Brain damage in glycogen storage disease type I.
Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G. Melis D, et al. Among authors: santoro l. J Pediatr. 2004 May;144(5):637-42. doi: 10.1016/j.jpeds.2004.02.033. J Pediatr. 2004. PMID: 15127000
Electrophysiological characterisation in hereditary spastic paraplegia type 5.
Manganelli F, Pisciotta C, Dubbioso R, Iodice R, Criscuolo C, Ruggiero L, De Michele G, Santoro L. Manganelli F, et al. Among authors: santoro l. Clin Neurophysiol. 2011 Apr;122(4):819-22. doi: 10.1016/j.clinph.2010.10.025. Epub 2010 Dec 15. Clin Neurophysiol. 2011. PMID: 21111673
Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy.
Manganelli F, Dubbioso R, Nolano M, Iodice R, Pisciotta C, Provitera V, Ruggiero L, Serlenga L, Barbieri F, Santoro L. Manganelli F, et al. Among authors: santoro l. Arch Neurol. 2011 Apr;68(4):504-7. doi: 10.1001/archneurol.2011.60. Arch Neurol. 2011. PMID: 21482929
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Scionti I, et al. Among authors: santoro l. Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019. Am J Hum Genet. 2012. PMID: 22482803 Free PMC article.
Early changes of myocardial deformation properties in patients with dystrophia myotonica type 1: a three-dimensional Speckle Tracking echocardiographic study.
Galderisi M, De Stefano F, Santoro C, Buonauro A, De Palma D, Manganelli F, Ruggiero L, Santoro L, de Simone G. Galderisi M, et al. Among authors: santoro l, santoro c. Int J Cardiol. 2014 Oct 20;176(3):1094-6. doi: 10.1016/j.ijcard.2014.07.121. Epub 2014 Aug 1. Int J Cardiol. 2014. PMID: 25127337 Clinical Trial. No abstract available.
789 results