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Page 1
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: cenacchi g. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
The role of ultrastructural examination in storage diseases.
Papa V, Tarantino L, Preda P, Badiali De Giorgi L, Fanin M, Pegoraro E, Angelini C, Cenacchi G. Papa V, et al. Among authors: cenacchi g. Ultrastruct Pathol. 2010 Oct;34(5):243-51. doi: 10.3109/01913121003780593. Ultrastruct Pathol. 2010. PMID: 20568989
Ultrastructural changes in LGMD1F.
Cenacchi G, Peterle E, Fanin M, Papa V, Salaroli R, Angelini C. Cenacchi G, et al. Neuropathology. 2013 Jun;33(3):276-80. doi: 10.1111/neup.12003. Epub 2012 Dec 21. Neuropathology. 2013. PMID: 23279333
Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.
Bartoletti-Stella A, Mariani E, Kurelac I, Maresca A, Caratozzolo MF, Iommarini L, Carelli V, Eusebi LH, Guido A, Cenacchi G, Fuccio L, Rugolo M, Tullo A, Porcelli AM, Gasparre G. Bartoletti-Stella A, et al. Among authors: cenacchi g. Cell Death Dis. 2013 Jun 13;4(6):e663. doi: 10.1038/cddis.2013.187. Cell Death Dis. 2013. PMID: 23764844 Free PMC article.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: cenacchi g. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.
Boschetti E, D'Alessandro R, Bianco F, Carelli V, Cenacchi G, Pinna AD, Del Gaudio M, Rinaldi R, Stanghellini V, Pironi L, Rhoden K, Tugnoli V, Casali C, De Giorgio R. Boschetti E, et al. Among authors: cenacchi g. PLoS One. 2014 May 6;9(5):e96692. doi: 10.1371/journal.pone.0096692. eCollection 2014. PLoS One. 2014. PMID: 24802030 Free PMC article.
Skeletal muscle satellite cells in amyotrophic lateral sclerosis.
Scaramozza A, Marchese V, Papa V, Salaroli R, Sorarù G, Angelini C, Cenacchi G. Scaramozza A, et al. Among authors: cenacchi g. Ultrastruct Pathol. 2014 Oct;38(5):295-302. doi: 10.3109/01913123.2014.937842. Epub 2014 Jul 31. Ultrastruct Pathol. 2014. PMID: 25079897
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M. Pippucci T, et al. Among authors: cenacchi g. EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399. EMBO Mol Med. 2015. PMID: 25870235 Free PMC article.
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: cenacchi g. Neurol Sci. 2016 Jul;37(7):1149-51. doi: 10.1007/s10072-016-2552-7. Epub 2016 Mar 23. Neurol Sci. 2016. PMID: 27007276
249 results