검색결과 : 3건
No. | Article |
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1 |
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene Cardaioli E, Mignarri A, Cantisani TA, Malandrini A, Nesti C, Rubegni A, Funel N, Federico A, Santorelli FM, Dotti MT Biochemical and Biophysical Research Communications, 500(2), 158, 2018 |
2 |
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM Biochemical and Biophysical Research Communications, 355(1), 181, 2007 |
3 |
A novel heteroplasmic tRNA (Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia Cardaioli E, Da Pozzo P, Radi E, Dotti MT, Federico A Biochemical and Biophysical Research Communications, 327(3), 675, 2005 |