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ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R. Torraco A, et al. Among authors: di nottia m. Hum Mol Genet. 2018 Oct 15;27(20):3650. doi: 10.1093/hmg/ddy273. Hum Mol Genet. 2018. PMID: 30113620 No abstract available.
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
Carrozzo R, Torraco A, Fiermonte G, Martinelli D, Di Nottia M, Rizza T, Vozza A, Verrigni D, Diodato D, Parisi G, Maiorana A, Rizzo C, Pierri CL, Zucano S, Piemonte F, Bertini E, Dionisi-Vici C. Carrozzo R, et al. Among authors: di nottia m. Mitochondrion. 2014 Sep;18:49-57. doi: 10.1016/j.mito.2014.09.006. Epub 2014 Sep 22. Mitochondrion. 2014. PMID: 25251739
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. Torraco A, et al. Among authors: di nottia m. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25. Clin Genet. 2017. PMID: 27102574
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R. Torraco A, et al. Among authors: di nottia m. J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26. J Neurol. 2017. PMID: 27785568
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R. Di Nottia M, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Apr;1863(4):961-967. doi: 10.1016/j.bbadis.2017.01.022. Epub 2017 Jan 26. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28132884 Free PMC article.
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D. Nasca A, et al. Among authors: di nottia m. Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1. Orphanet J Rare Dis. 2017. PMID: 28494813 Free PMC article.
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R. Torraco A, et al. Among authors: di nottia m. Hum Mol Genet. 2018 Aug 1;27(15):2739-2754. doi: 10.1093/hmg/ddy183. Hum Mol Genet. 2018. PMID: 29767723
29 results