Publications

Found 6 results
Filters: Keyword is Carnitine  [Clear All Filters]
2008
Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G & Tiranti V (2008) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet 45, 473-8
2006
Stella C, Beckwith-Hall B, Cloarec O, Holmes E, Lindon JC, Powell J, van der Ouderaa F, Bingham S, Cross AJ & Nicholson JK (2006) Susceptibility of human metabolic phenotypes to dietary modulation. J Proteome Res 5, 2780-8
1991
Arenas J, Ricoy JR, Encinas AR, Pola P, D'Iddio S, Zeviani M, DiDonato S & Corsi M (1991) Carnitine in muscle, serum, and urine of nonprofessional athletes: effects of physical exercise, training, and L-carnitine administration. Muscle Nerve 14, 598-604
1990
Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F & DiDonato S (1990) Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 40, 495-9
1987
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC & Schon EA (1987) Mitochondrial myopathies. J Inherit Metab Dis 10 Suppl 1, 113-28
1985
DiMauro S, Bonilla E, Zeviani M, Nakagawa M & DeVivo DC (1985) Mitochondrial myopathies. Ann Neurol 17, 521-38