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Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy.
Gu Y, Guerra F, Hu M, Pope A, Sung K, Yang W, Jetha S, Shoff TA, Gunatilake T, Dahlkamp O, Shi LZ, Manganelli F, Nolano M, Zhou Y, Ding J, Bucci C, Wu C. Gu Y, et al. Among authors: manganelli f. Commun Biol. 2022 Jul 18;5(1):717. doi: 10.1038/s42003-022-03632-1. Commun Biol. 2022. PMID: 35851620 Free PMC article.
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: manganelli f. 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.
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.
Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Radice D, Calabrese D, Hughes RA, Solari A; CMT-TRIAAL; CMT-TRAUK groups. Pareyson D, et al. Lancet Neurol. 2011 Apr;10(4):320-8. doi: 10.1016/S1474-4422(11)70025-4. Lancet Neurol. 2011. PMID: 21393063 Free PMC article. Clinical Trial.
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. 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. 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
Electrophysiological comparison between males and females in HNPP.
Manganelli F, Pisciotta C, Dubbioso R, Maruotti V, Iodice R, Notturno F, Ruggiero L, Vitale C, Nolano M, Uncini A, Santoro L. Manganelli F, et al. Neurol Sci. 2013 Aug;34(8):1429-32. doi: 10.1007/s10072-012-1258-8. Epub 2012 Dec 4. Neurol Sci. 2013. PMID: 23207550
313 results