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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: papa v. 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. 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. Among authors: papa v. Neuropathology. 2013 Jun;33(3):276-80. doi: 10.1111/neup.12003. Epub 2012 Dec 21. Neuropathology. 2013. PMID: 23279333
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: papa v. 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: papa v. EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399. EMBO Mol Med. 2015. PMID: 25870235 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: papa v. Ann Neurol. 2016 Sep;80(3):448-55. doi: 10.1002/ana.24724. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27421916
The clinical spectrum of CASQ1-related myopathy.
Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E. Semplicini C, et al. Among authors: papa v. Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26. Neurology. 2018. PMID: 30258016 Free PMC article.
Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Among authors: papa v. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
280 results