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Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Cipriani S, et al. Among authors: pisciotta c. Eur J Neurol. 2023 Feb;30(2):511-526. doi: 10.1111/ene.15601. Epub 2022 Nov 21. Eur J Neurol. 2023. PMID: 36260368 Free PMC article.
Nine-year case history of monofocal motor neuropathy.
Manganelli F, Pisciotta C, Iodice R, Calandro S, Santoro L. Manganelli F, et al. Among authors: pisciotta c. 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: pisciotta c. Muscle Nerve. 2009 Feb;39(2):224-6. doi: 10.1002/mus.21219. Muscle Nerve. 2009. PMID: 19145655
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V. Santoro L, et al. Among authors: pisciotta c. Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21. Neurogenetics. 2011. PMID: 20853184 Free PMC article.
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: pisciotta c. 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: pisciotta c. Arch Neurol. 2011 Apr;68(4):504-7. doi: 10.1001/archneurol.2011.60. Arch Neurol. 2011. PMID: 21482929
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Manganelli F, Pisciotta C, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, Santoro L. Manganelli F, et al. Among authors: pisciotta c. J Peripher Nerv Syst. 2012 Sep;17(3):351-5. doi: 10.1111/j.1529-8027.2012.00414.x. J Peripher Nerv Syst. 2012. PMID: 22971097
Autonomic nervous system involvement in a new CMT2B family.
Manganelli F, Pisciotta C, Provitera V, Taioli F, Iodice R, Topa A, Fabrizi GM, Nolano M, Santoro L. Manganelli F, et al. Among authors: pisciotta c. J Peripher Nerv Syst. 2012 Sep;17(3):361-4. doi: 10.1111/j.1529-8027.2012.00415.x. J Peripher Nerv Syst. 2012. PMID: 22971099
89 results