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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. Lassuthova P, et al. Among authors: santoro l. Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023. Am J Hum Genet. 2018. PMID: 29499166 Free PMC article.
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C. Biancheri R, et al. Among authors: santoro l. J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10. J Neurol. 2006. PMID: 16607474 No abstract available.
Nine-year case history of monofocal motor neuropathy.
Manganelli F, Pisciotta C, Iodice R, Calandro S, Santoro L. Manganelli F, et al. Among authors: santoro l. Muscle Nerve. 2008 Jul;38(1):927-9. doi: 10.1002/mus.21005. Muscle Nerve. 2008. PMID: 18508346
Case of acute motor conduction block neuropathy (AMCBN).
Manganelli F, Pisciotta C, Iodice R, Calandro S, Dubbioso R, Ranieri A, Santoro L. Manganelli F, et al. Among authors: santoro l. Muscle Nerve. 2009 Feb;39(2):224-6. doi: 10.1002/mus.21219. Muscle Nerve. 2009. PMID: 19145655
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
775 results