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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions 下一代测序揭示了线粒体DNA多缺失的成年患者的DGUOK突变 Ronchi, Dario; Garone, Caterina; Bordoni, Andreina; Rios, Purificacion Gutierrez; Calvo, Sarah E.; Ripolone, Michela; Ranieri, Michela; Rizzuti, Mafalda; Villa, Luisa; Magri, Francesca; Corti, Stefania; Bresolin, Nereo; Mootha, Vamsi K.; Moggio, Maurizio; DiMauro, Salvatore; Comi, Giacomo P.; Sciacco, Monica 分享 收藏
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Muscle phosphorylase kinase deficiency A neutral metabolic variant or a disease? Preisler, N.; Orngreen, M. C.; Echaniz-Laguna, A.; Laforet, P.; Lonsdorfer-Wolf, E.; Doutreleau, S.; Geny, B.; Akman, H. O.; DiMauro, S.; Vissing, J. 分享 收藏
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype Kaufmann, P.; Engelstad, K.; Wei, Y.; Kulikova, R.; Oskoui, M.; Sproule, D. M.; Battista, V.; Koenigsberger, D. Y.; Pascual, J. M.; Shanske, S.; Sano, M.; Mao, X.; Hirano, M.; Shungu, D. C.; DiMauro, S.; De Vivo, D. C. 分享 收藏
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy Horvath, Rita; Kemp, John P.; Tuppen, Helen A. L.; Hudson, Gavin; Oldfors, Anders; Marie, Suely K. N.; Moslemi, Ali-Reza; Servidei, Serenella; Holme, Elisabeth; Shanske, Sara; Kollberg, Gittan; Jayakar, Parul; Pyle, Angela; Marks, Harold M.; Holinski-Feder, Elke; Scavina, Mena; Walter, Maggie C.; Coku, Jorida; Guenther-Scholz, Andrea; Smith, Paul M.; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M. A.; Lightowlers, Robert N.; Hirano, Michio; Lochmueller, Hanns; Taylor, Robert W.; Chinnery, Patrick F.; Tulinius, Mar; DiMauro, Salvatore 分享 收藏
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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Orngreen, M. C.; Schelhaas, H. J.; Jeppesen, T. D.; Akman, H. O.; Wevers, R. A.; Andersen, S. T.; ter Laak, H. J.; van Diggelen, O. P.; DiMauro, S.; Vissing, J. 分享 收藏
Placental involvement in glycogen storage disease type IV Konstantinidou, A. E.; Anninos, H.; Dertinger, S.; Nonni, A.; Petersen, M.; Karadimas, C.; Havaki, S.; Marinos, E.; Akman, H. O.; DiMauro, S.; Patsouris, E. 分享 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. 分享 收藏
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations Tuppen, H. A. L.; Fattori, F.; Carrozzo, R.; Zeviani, M.; DiMauro, S.; Seneca, S.; Martindale, J. E.; Olpin, S. E.; Treacy, E. P.; McFarland, R.; Santorelli, F. M.; Taylor, R. W. 分享 收藏
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE Hirano, M.; Marti, R.; Casali, C.; Tadesse, S.; Uldrick, T.; Fine, B.; Escolar, D. M.; Valentino, M. L.; Nishino, I.; Hesdorffer, C.; Schwartz, J.; Hawks, R. G.; Martone, D. L.; Cairo, M. S.; DiMauro, S.; Stanzani, M.; Garvin, J. H., Jr.; Savage, D. G. 分享 收藏
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis Konstantinidou, AE; Anninos, H; Gyftodimou, Y; Petersen, MB; Karadimas, C; Fotopoulos, S; Paraskevakou, H; O Akman, H; DiMauro, S; Patsouris, E 分享 收藏
Dichloroacetate causes toxic neuropathy in MELAS - A randomized, controlled clinical trial Kaufmann, P; Engelstad, K; Wei, Y; Jhung, S; Sano, MC; Shungu, DC; Millar, WS; Hong, X; Gooch, CL; Mao, X; Pascual, JM; Hirano, M; Stacpoole, PW; DiMauro, S; De Vivo, DC 分享 收藏
Coenzyme Q10 deficiency and isolated myopathy Horvath, R; Schneiderat, P; Schoser, BGH; Gempel, K; Neuen-Jacob, E; Plöger, H; Müller-Höcker, J; Pongratz, DE; Naini, A; DiMauro, S; Lochmüller, H 分享 收藏
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition Salviati, L; Sacconi, S; Murer, L; Zacchello, G; Franceschini, L; Laverda, AM; Basso, G; Quinzii, C; Angelini, C; Hirano, M; Naini, B; Navas, P; DiMauro, S; Montini, G 分享 收藏
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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 分享 收藏
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