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New mutations in TK2 gene associated with mitochondrial DNA depletion.
Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, Sciacco M, Garufi A, Prelle A, Aguennouz M', Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. Galbiati S, et al. Among authors: crimi m. Pediatr Neurol. 2006 Mar;34(3):177-85. doi: 10.1016/j.pediatrneurol.2005.07.013. Pediatr Neurol. 2006. PMID: 16504786
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H. Mora M, et al. Among authors: crimi m. Eur J Hum Genet. 2015 Sep;23(9):1116-23. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537360 Free PMC article.
82 results