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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. 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.
Axial myoclonus in paraproteinemic polyneuropathy.
Vetrugno R, Liguori R, D'Alessandro R, D'Angelo R, Alessandria M, Montagna P. Vetrugno R, et al. Muscle Nerve. 2008 Oct;38(4):1330-5. doi: 10.1002/mus.21095. Muscle Nerve. 2008. PMID: 18816614
Acute chorea-dystonia heralding diabetes mellitus.
D'Angelo R, Rinaldi R, Pinardi F, Guarino M. D'Angelo R, et al. BMJ Case Rep. 2013 Sep 2;2013:bcr2013009221. doi: 10.1136/bcr-2013-009221. BMJ Case Rep. 2013. PMID: 24000205 Free PMC article.
Wait and see: a 5 year history of 'recurrent dementia'.
D'Angelo R, Rinaldi R, Parchi P, Cirignotta F. D'Angelo R, et al. BMJ Case Rep. 2014 Nov 19;2014:bcr2014205991. doi: 10.1136/bcr-2014-205991. BMJ Case Rep. 2014. PMID: 25410032 Free PMC article.
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
De Giorgio R, Pironi L, Rinaldi R, Boschetti E, Caporali L, Capristo M, Casali C, Cenacchi G, Contin M, D'Angelo R, D'Errico A, Gramegna LL, Lodi R, Maresca A, Mohamed S, Morelli MC, Papa V, Tonon C, Tugnoli V, Carelli V, D'Alessandro R, Pinna AD. De Giorgio R, et al. Ann Neurol. 2016 Sep;80(3):448-55. doi: 10.1002/ana.24724. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27421916
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S, Baiardi S, Rinaldi R, Bartoletti-Stella A, Graziano C, Piras S, Calandra-Buonaura G, D'Angelo R, Terziotti C, Lodi R, Donadio V, Pironi L, Cortelli P, Parchi P. Capellari S, et al. Ann Clin Transl Neurol. 2018 Apr 26;5(6):777-783. doi: 10.1002/acn3.568. eCollection 2018 Jun. Ann Clin Transl Neurol. 2018. PMID: 29928661 Free PMC article.
301 results