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收藏A functionally dominant mitochondrial DNA mutation
Sacconi, Sabrina; Salviati, Leonardo; Nishigaki, Yutaka; Walker, Winsome F.; Hernandez-Rosa, Evelyn; Trevisson, Eva; Delplace, Severine; Desnuelle, Claude; Shanske, Sara; Hirano, Michio; Schon, Eric A.; Bonilla, Eduardo; De Vivo, Darryl C.; DiMauro, Salvatore; Davidson, Mercy M.
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收藏Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients
Santorelli, FM; Sciacco, M; Tanji, K; Shanske, S; Vu, TH; Golzi, V; Griggs, RC; Mendell, JR; Hays, AP; Bertorini, TE; Pestronk, A; Bonilla, E; DiMauro, S
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收藏Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy
Wilhelmsen, KC; Blake, DM; Lynch, T; Mabutas, J; DeVera, M; Neystat, M; Bernstein, M; Hirano, M; Gilliam, TC; Murphy, PL; Sola, MD; Bonilla, E; Schotland, DL; Hays, AP; Rowland, LP
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收藏A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2
Palenzuela, L; Andreu, AL; Gàmez, J; Vilà, MR; Kunimatsu, T; Meseguer, A; Cervera, C; Cadenas, IF; van der Ven, PFM; Nygaard, TG; Bonilla, E; Hirano, M
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收藏Reversion of mtDNA depletion in a patient with TK2 deficiency
Vilà, MR; Segovia-Silvestre, T; Gámez, J; Marina, A; Naini, AB; Meseguer, A; Lombès, A; Bonilla, E; DiMauro, S; Hirano, M; Andreu, AL
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收藏Mitochondrial DNA depletion -: Mutations in thymidine kinase gene with myopathy and SMA
Mancuso, M; Salviati, L; Sacconi, S; Otaegui, D; Camaño, P; Marina, A; Bacman, S; Moraes, CT; Carlo, JR; Garcia, M; Garcia-Alvarez, M; Monzon, L; Naini, AB; Hirano, M; Bonilla, E; Taratuto, AL; DiMauro, S; Vu, TH
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收藏Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
Andreu, AL; Tanji, K; Bruno, C; Hadjigeorgiou, GM; Sue, CM; Jay, C; Ohnishi, T; Shanske, S; Bonilla, E; DiMauro, S
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收藏A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
Andreu, AL; Bruno, C; Dunne, TC; Tanji, K; Shanske, S; Sue, CM; Krishna, S; Hadjigeorgiou, GM; Shtilbans, A; Bonilla, E; DiMauro, S
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收藏Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
Sue, CM; Karadimas, C; Checcarelli, N; Tanji, K; Papadopoulou, LC; Pallotti, F; Guo, FL; Shanske, S; Hirano, M; De Vivo, DC; Van Coster, R; Kaplan, P; Bonilla, E; DiMauro, S
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收藏Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA
Karadimas, CL; Greenstein, P; Sue, CM; Joseph, JT; Tanji, K; Haller, RG; Taivassalo, T; Davidson, MM; Shanske, S; Bonilla, E; DiMauro, S
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收藏Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene
Sue, CM; Tanji, K; Hadjigeorgiou, G; Andreu, AL; Nishino, I; Krishna, S; Bruno, C; Hirano, M; Shanske, S; Bonilla, E; Fischel-Ghodsian, N; DiMauro, S; Friedman, R
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