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Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L. Nicita F, et al. Among authors: bertini e. J Neurol. 2019 Nov;266(11):2657-2664. doi: 10.1007/s00415-019-09466-y. Epub 2019 Jul 13. J Neurol. 2019. PMID: 31302745
Fatal infantile liver failure associated with mitochondrial DNA depletion.
Mazziotta MR, Ricci E, Bertini E, Dionisi Vici C, Servidei S, Burlina AB, Sabetta G, Bartuli A, Manfredi G, Silvestri G, et al. Mazziotta MR, et al. Among authors: bertini e. J Pediatr. 1992 Dec;121(6):896-901. doi: 10.1016/s0022-3476(05)80335-x. J Pediatr. 1992. PMID: 1447652 Free article.
Hereditary metabolic cardiomyopathies.
Servidei S, Bertini E, DiMauro S. Servidei S, et al. Among authors: bertini e. Adv Pediatr. 1994;41:1-32. Adv Pediatr. 1994. PMID: 7992680 Review. No abstract available.
Autosomal recessive hypermyelinating neuropathy.
Sabatelli M, Mignogna T, Lippi G, Servidei S, Manfredi G, Ricci E, Bertini E, Lo Monaco M, Tonali P. Sabatelli M, et al. Among authors: bertini e. Acta Neuropathol. 1994;87(4):337-42. doi: 10.1007/BF00313601. Acta Neuropathol. 1994. PMID: 8017168
Presymptomatic diagnosis of SMA III by genotype analysis.
Brahe C, Zappata S, Velonà I, Bertini E, Servidei S, Tonali P, Neri G. Brahe C, et al. Among authors: bertini e. Am J Med Genet. 1993 Feb 1;45(3):408-11. doi: 10.1002/ajmg.1320450331. Am J Med Genet. 1993. PMID: 8434634
905 results