Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation von QUINZII, C. M, KATTAH, A. G, NAINI, A, AKMAN, H. O, MOOTHA, V. K, DIMAURO, S, HIRANO, M

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Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease? von PREISLER, N, ORNGREEN, M. C, ECHANIZ-LAGUNA, A, LAFORET, P, LONSDORFER-WOLF, E, DOUTRELEAU, S, GENY, B, AKMAN, H. O, DIMAURO, S, VISSING, J

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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? von 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

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Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic... von Taratuto, A.L, Akman, H.O, Saccoliti, M, Riudavets, M, Arakaki, N, Mesa, L, Sevlever, G, Goebel, H, DiMauro, S

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Placental Involvement in Glycogen Storage Disease Type IV von Konstantinidou, A.E, Anninos, H, Dertinger, S, Nonni, A, Petersen, M, Karadimas, C, Havaki, S, Marinos, E, Akman, H.O, DiMauro, S, Patsouris, E

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Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis von Konstantinidou, A E, Anninos, H, Gyftodimou, Y, Petersen, M B, Karadimas, C, Fotopoulos, S, Paraskevakou, H, Akman, H O, DiMauro, S, Patsouris, E

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A new muscle glycogen storage disease associated with glycogenin-1 deficiency von Malfatti, Edoardo, Nilsson, Johanna, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Michel, Fabrice, Dominguez-Gonzalez, Cristina, Viennet, Gabriel, Akman, H. Orhan, Kornblum, Cornelia, Van den Bergh, Peter, Romero, Norma B., Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders

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Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation von DORADO, Beatriz, AREA, Estela, AKMAN, Hasan O, HIRANO, Michio

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Glycogen synthase ( GYS1) mutation causes a novel skeletal muscle glycogenosis von McCue, Molly E., Valberg, Stephanie J., Miller, Michael B., Wade, Claire, DiMauro, Salvatore, Akman, Hasan O., Mickelson, James R.

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Circulating endothelial progenitor cells in multiple myeloma: implications and significance von Zhang, Hong, Vakil, Varsha, Braunstein, Marc, Smith, Eric L.P., Maroney, Justin, Chen, Laurie, Dai, Kezhi, Berenson, James R., Hussain, M.Mahmood, Klueppelberg, Uwe, Norin, Allen J., Akman, Hasan O., Özçelik, Tayfun, Batuman, Olcay A.

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MitoExome Sequencing Reveals a Mutation in the Mitochondrial MRPL51 Gene Causing Infantile Encephalopathy (P05.139) von Garone, C., Calvo, S., Emmanuele, V., Akman, O. H., Kaplan, P., Krishna, S., Mootha, V., DiMauro, S., Hirano, M.

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Cellular response to hypoxia involves signaling via Smad proteins von Zhang, Hong, Akman, Hasan O., Smith, Eric L.P., Zhao, Jin, Murphy-Ullrich, Joanne E., Batuman, Olcay A.

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Antioxidant therapy of cobalt and vitamin E in hemosiderosis von Inan, Çiǧdem, Kilinç, Kamer, Kotiloǧlu, Esin, Akman, Hasan Orhan, Kiliç, Ilknur, Michl, Josef

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Adult polyglucosan body disease: A case report of a manifesting heterozygote von Ubogu, Eroboghene E., Hong, Stacey Tay Kiat, Akman, Hasan Orhan, Dimauro, Salvatore, Katirji, Bashar, Preston, David C., Shapiro, Barbara E.

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Fatal infantile neuromuscular presentation of glycogen storage disease type IV von Tay, Stacey K.H., Akman, Hasan O., Chung, Wendy K., Pike, Michael G., Muntoni, Francesco, Hays, Arthur P., Shanske, Sara, Valberg, Stephanie J., Mickelson, James R., Tanji, Kurenai, DiMauro, Salvatore

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Effects of Resveratrol in Storage Solution on Adhesion Molecule Expression and Nitric Oxide Synthesis in Vein Grafts von Kaplan, Sadi, Morgan, Jeffrey A., Bisleri, Gianluigi, Cheema, Faisal H., Akman, Hasan O., Topkara, Veli K., Oz, Mehmet C.

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Differential, tissue-specific, transcriptional regulation of apolipoprotein B secretion by transforming growth factor beta von Singh, Karnail, Batuman, Olcay A, Akman, Hassan O, Kedees, Mamdouh H, Vakil, Varsha, Hussain, M Mahmood

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Response to hypoxia involves transforming growth factor-beta2 and Smad proteins in human endothelial cells von Akman, H O, Zhang, H, Siddiqui, M A, Solomon, W, Smith, E L, Batuman, O A

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Bayes estimation in a mixture inverse Gaussian model von GUPTA, R. C, AKMAN, H. O

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On the reliability studies of a weighted inverse Gaussian model von Gupta, Ramesh C., Akman, H.Olcay

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