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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: gramegna ll. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Prognostic value of brain proton MR spectroscopy and diffusion tensor imaging in newborns with hypoxic-ischemic encephalopathy treated by brain cooling.
Ancora G, Testa C, Grandi S, Tonon C, Sbravati F, Savini S, Manners DN, Gramegna LL, Tani G, Malucelli E, Corvaglia LT, Faldella G, Lodi R. Ancora G, et al. Among authors: gramegna ll. Neuroradiology. 2013 Aug;55(8):1017-1025. doi: 10.1007/s00234-013-1202-5. Epub 2013 May 24. Neuroradiology. 2013. PMID: 23703033
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
D'Angelo R, Rinaldi R, Carelli V, Boschetti E, Caporali L, Capristo M, Casali C, Cenacchi G, Gramegna LL, Lodi R, Pinna AD, Pironi L, Stanzani M, Tonon C, D'Alessandro R, De Giorgio R. D'Angelo R, et al. Among authors: gramegna ll. Neurol Sci. 2016 Jul;37(7):1149-51. doi: 10.1007/s10072-016-2552-7. Epub 2016 Mar 23. Neurol Sci. 2016. PMID: 27007276
Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.
Zanigni S, Evangelisti S, Giannoccaro MP, Oppi F, Poda R, Giorgio A, Testa C, Manners DN, Avoni P, Gramegna LL, De Stefano N, Lodi R, Tonon C, Liguori R. Zanigni S, et al. Among authors: gramegna ll. Neuroimage Clin. 2016 May 3;11:678-685. doi: 10.1016/j.nicl.2016.04.012. eCollection 2016. Neuroimage Clin. 2016. PMID: 27330968 Free PMC article.
Accuracy of MR markers for differentiating Progressive Supranuclear Palsy from Parkinson's disease.
Zanigni S, Calandra-Buonaura G, Manners DN, Testa C, Gibertoni D, Evangelisti S, Sambati L, Guarino M, De Massis P, Gramegna LL, Bianchini C, Rucci P, Cortelli P, Lodi R, Tonon C. Zanigni S, et al. Among authors: gramegna ll. Neuroimage Clin. 2016 May 30;11:736-742. doi: 10.1016/j.nicl.2016.05.016. eCollection 2016. Neuroimage Clin. 2016. PMID: 27330973 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. Among authors: gramegna ll. Ann Neurol. 2016 Sep;80(3):448-55. doi: 10.1002/ana.24724. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27421916
65 results