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Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.
Cardaioli E, Mignarri A, Cantisani TA, Malandrini A, Nesti C, Rubegni A, Funel N, Federico A, Santorelli FM, Dotti MT. Cardaioli E, et al. Among authors: mignarri a. Biochem Biophys Res Commun. 2018 Jun 2;500(2):158-162. doi: 10.1016/j.bbrc.2018.04.009. Epub 2018 Apr 13. Biochem Biophys Res Commun. 2018. PMID: 29625105
Four novel CYP27A1 mutations in seven Italian patients with CTX.
Gallus GN, Dotti MT, Mignarri A, Rufa A, Da Pozzo P, Cardaioli E, Federico A. Gallus GN, et al. Among authors: mignarri a. Eur J Neurol. 2010 Oct;17(10):1259-62. doi: 10.1111/j.1468-1331.2010.03002.x. Eur J Neurol. 2010. PMID: 20402754
First report of an Iraqi Kurdish CADASIL patient.
Mignarri A, Martini G, Malandrini A, Bellini M, Bianchi S, Tassi R, Federico A, Dotti MT. Mignarri A, et al. Neurol Sci. 2011 Apr;32(2):359-60. doi: 10.1007/s10072-010-0399-x. Epub 2010 Sep 21. Neurol Sci. 2011. PMID: 20857162 No abstract available.
73 results