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Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Cortese A, et al. Among authors: napoli l. Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14. Neurology. 2014. PMID: 24827497 Free PMC article.
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome.
Papadimitriou A, Comi GP, Hadjigeorgiou GM, Bordoni A, Sciacco M, Napoli L, Prelle A, Moggio M, Fagiolari G, Bresolin N, Salani S, Anastasopoulos I, Giassakis G, Divari R, Scarlato G. Papadimitriou A, et al. Among authors: napoli l. Neurology. 1998 Oct;51(4):1086-92. doi: 10.1212/wnl.51.4.1086. Neurology. 1998. PMID: 9781534
Lack of apoptosis in mitochondrial encephalomyopathies.
Sciacco M, Fagiolari G, Lamperti C, Messina S, Bazzi P, Napoli L, Chiveri L, Prelle A, Comi GP, Bresolin N, Scarlato G, Moggio M. Sciacco M, et al. Among authors: napoli l. Neurology. 2001 Apr 24;56(8):1070-4. doi: 10.1212/wnl.56.8.1070. Neurology. 2001. PMID: 11320180
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.
Sciacco M, Prelle A, Comi GP, Napoli L, Battistel A, Bresolin N, Tancredi L, Lamperti C, Bordoni A, Fagiolari G, Ciscato P, Chiveri L, Perini MP, Fortunato F, Adobbati L, Messina S, Toscano A, Martinelli-Boneschi F, Papadimitriou A, Scarlato G, Moggio M. Sciacco M, et al. Among authors: napoli l. J Neurol. 2001 Sep;248(9):778-88. doi: 10.1007/s004150170094. J Neurol. 2001. PMID: 11596783
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. Di Fonzo A, et al. Among authors: napoli l. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409522 Free PMC article.
IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis.
Colombo I, Fruguglietti ME, Napoli L, Sciacco M, Tagliaferri E, Della Volpe A, Crugnola V, Bresolin N, Moggio M, Prelle A. Colombo I, et al. Among authors: napoli l. Neurol Res Int. 2010;2010:808474. doi: 10.1155/2010/808474. Epub 2010 Jul 19. Neurol Res Int. 2010. PMID: 21188228 Free PMC article.
190 results