RIMOLDI, LORENZO MARCO

RIMOLDI, LORENZO MARCO  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Fumarase deficiency is an autosornal recessive encephalopathy ffecting both the mitochondrial and the cytosolic enzymes 1990 Rimoldi M.Zeviani M. + NEUROLOGY - -
[Metabolic myopathies] 1991 Zeviani, MRimoldi, M + MINERVA PEDIATRICA - -
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR) 1991 Zeviani M.Rimoldi M. + THE LANCET - -
Respiratory chain and mitochondrial DNA in muscle and brain in parkinson's disease patients 1993 Zeviani M.Giovannini P.Savarese N.Rimoldi M.Caraceni T. + NEUROLOGY - -
Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency 1995 Filippini G.Rimoldi M.Zeviani M. + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA 1995 Savarese N.Rimoldi M.Zeviani M. + JOURNAL OF NEUROLOGY - -
Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy 1998 Rimoldi M.Zeviani M. + ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES - -
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy 2008 Rimoldi M.Zeviani M. + JOURNAL OF MEDICAL GENETICS - -
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy 2009 Viscomi C.Rimoldi M.Zeviani M. + NATURE MEDICINE - -