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Page 1
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: papadimitriou a. J Neurol. 2001 Sep;248(9):778-88. doi: 10.1007/s004150170094. J Neurol. 2001. PMID: 11596783
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. Neurology. 1998 Oct;51(4):1086-92. doi: 10.1212/wnl.51.4.1086. Neurology. 1998. PMID: 9781534
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
Hadjigeorgiou GM, Comi GP, Bordoni A, Shen J, Chen YT, Salani S, Toscano A, Fortunato F, Lucchiari S, Bresolin N, Rodolico C, Piscaglia MG, Franceschina L, Papadimitriou A, Scarlato G. Hadjigeorgiou GM, et al. Among authors: papadimitriou a. J Inherit Metab Dis. 1999 Aug;22(6):762-3. doi: 10.1023/a:1005572906807. J Inherit Metab Dis. 1999. PMID: 10472540 No abstract available.
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Nishino I, et al. Among authors: papadimitriou a. Ann Neurol. 2000 Jun;47(6):792-800. Ann Neurol. 2000. PMID: 10852545
324 results