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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: dotti mt. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
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: dotti mt. Neurol Sci. 2010 Aug;31(4):491-4. doi: 10.1007/s10072-010-0225-5. Epub 2010 Mar 16. Neurol Sci. 2010. PMID: 20232099
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Moghadam KK, et al. Among authors: dotti mt. Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10. Brain. 2014. PMID: 24727570 Free article.
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis.
Brienza M, Fiermonte G, Cambieri C, Mignarri A, Dotti MT, Fiorelli M. Brienza M, et al. Among authors: dotti mt. J Inherit Metab Dis. 2015 Sep;38(5):981-2. doi: 10.1007/s10545-014-9805-5. Epub 2015 Jan 8. J Inherit Metab Dis. 2015. PMID: 25567502 No abstract available.
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.
Gramegna LL, Pisano A, Testa C, Manners DN, D'Angelo R, Boschetti E, Giancola F, Pironi L, Caporali L, Capristo M, Valentino ML, Plazzi G, Casali C, Dotti MT, Cenacchi G, Hirano M, Giordano C, Parchi P, Rinaldi R, De Giorgio R, Lodi R, Carelli V, Tonon C. Gramegna LL, et al. Among authors: dotti mt. AJNR Am J Neuroradiol. 2018 Mar;39(3):427-434. doi: 10.3174/ajnr.A5507. Epub 2018 Jan 18. AJNR Am J Neuroradiol. 2018. PMID: 29348134 Free PMC article.
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.
D'Angelo R, Boschetti E, Amore G, Costa R, Pugliese A, Caporali L, Gramegna LL, Papa V, Vizioli L, Capristo M, Contin M, Mohamed S, Cenacchi G, Lodi R, Morelli MC, Fasano L, Pisani L, Cescon M, Tonon C, Pinna AD, Dotti MT, Sicurelli F, Scarpelli M, Filosto M, Casali C, Pironi L, Carelli V, De Giorgio R, Rinaldi R. D'Angelo R, et al. Among authors: dotti mt. J Neurol. 2020 Dec;267(12):3702-3710. doi: 10.1007/s00415-020-10051-x. Epub 2020 Jul 18. J Neurol. 2020. PMID: 32683607
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Boschetti E, D'Angelo R, Tardio ML, Costa R, Giordano C, Accarino A, Malagelada C, Clavenzani P, Tugnoli V, Caio G, Righi V, Garone C, D'Errico A, Cenacchi G, Dotti MT, Stanghellini V, Sternini C, Pironi L, Rinaldi R, Carelli V, De Giorgio R. Boschetti E, et al. Among authors: dotti mt. Am J Physiol Gastrointest Liver Physiol. 2021 May 1;320(5):G768-G779. doi: 10.1152/ajpgi.00047.2021. Epub 2021 Mar 3. Am J Physiol Gastrointest Liver Physiol. 2021. PMID: 33655764 Free PMC article.
319 results