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Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
Formichi P, Cardone N, Taglia I, Cardaioli E, Salvatore S, Gerfo AL, Simoncini C, Montano V, Siciliano G, Mancuso M, Malandrini A, Federico A, Dotti MT. Formichi P, et al. Among authors: federico a. Neurol Sci. 2020 Dec;41(12):3653-3662. doi: 10.1007/s10072-020-04422-5. Epub 2020 Jun 6. Neurol Sci. 2020. PMID: 32504279
A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
Cardaioli E, Da Pozzo P, Malfatti E, Battisti C, Gallus GN, Gaudiano C, Macucci M, Malandrini A, Margollicci M, Rubegni A, Dotti MT, Federico A. Cardaioli E, et al. Among authors: federico a. Neurol Sci. 2010 Aug;31(4):491-4. doi: 10.1007/s10072-010-0225-5. Epub 2010 Mar 16. Neurol Sci. 2010. PMID: 20232099
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A. Da Pozzo P, et al. Among authors: federico a. Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27. Neurol Sci. 2017. PMID: 28130605
Replay to: Phenotypic spectrum of POLG1 mutations.
Cardaioli E, Da Pozzo P, Federico A. Cardaioli E, et al. Among authors: federico a. Neurol Sci. 2018 Mar;39(3):575. doi: 10.1007/s10072-017-3229-6. Epub 2018 Feb 2. Neurol Sci. 2018. PMID: 29396812 No abstract available.
1,184 results