Výsledky vyhledávání - Akman, Hasan O

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation Autor Dorado, Beatriz, Area, Estela, Akman, Hasan O., Hirano, Michio

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Editorial: Using Small Molecules to Treat Macromolecule Storage Disorders Autor Kakhlon, Or, Escriba, Pablo V., Akman, Hasan O., Weil, Miguel

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Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency Autor Virmani, Tuhin, Rotstein, Michael, Spiegel, Ronen, Akman, Hasan O., DiMauro, Salvatore, Greene, Paul E.

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Long Survival in Patients with Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature Autor Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, De Vivo, Darryl C., DiMauro, Salvatore

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Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy Autor Shanske, Sara, Naini, Ali, Chmait, Ramen H., Akman, Hasan O., Mansukhani, Mahesh, Lu, Jiesheng, Hirano, Michio, DiMauro, Salvatore

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

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Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency Autor Garone, Caterina, Garcia-Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio

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Branching Enzyme Deficiency: Expanding the Clinical Spectrum Autor Paradas, Carmen, Akman, Hasan O., Ionete, Carolina, Lau, Heather, Riskind, Peter N., Jones, David E., Smith, Thomas W., Hirano, Michio, DiMauro, Salvatore

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Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene Autor Ríos, Purificacion Gutiérrez, Kalra, Arun A., Wilson, Jon D., Tanji, Kurenai, Akman, Hasan O., Gómez, Estela Area, Schon, Eric A., DiMauro, Salvatore

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Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance Autor Akman, Hasan O., Dorado, Beatriz, López, Luis C., García-Cazorla, Ángeles, Vilà, Maya R., Tanabe, Lauren M., Dauer, William T., Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio

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Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency Autor Lopez-Gomez, Carlos, Hewan, Henly, Sierra, Carlos, Akman, Hasan O., Sanchez-Quintero, Maria J., Juanola-Falgarona, Marti, Tadesse, Saba, Tanji, Kurenai, Konofagou, Elisa E., Hirano, Michio

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Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice Autor López, Luis C., Akman, Hasan O., García-Cazorla, Ángeles, Dorado, Beatriz, Martí, Ramón, Nishino, Ichizo, Tadesse, Saba, Pizzorno, Giuseppe, Shungu, Dikoma, Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio

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Fhl1 W122S causes loss of protein function and late-onset mild myopathy Autor Emmanuele, Valentina, Kubota, Akatsuki, Garcia-Diaz, Beatriz, Garone, Caterina, Akman, Hasan O., Sánchez-Gutiérrez, Daniel, Escudero, Luis M., Kariya, Shingo, Homma, Shunichi, Tanji, Kurenai, Quinzii, Catarina M., Hirano, Michio

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Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene Autor Akman, Hasan O., Davidzon, Guido, Tanji, Kurenai, MacDermott, Emma J., Larsen, Louann, Davidson, Mercy M., Haller, Ronald G., Szczepaniak, Lidia S., Lehman, Thomas J.A., Hirano, Michio, DiMauro, Salvatore

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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy Autor Taniguchi-Ikeda, Mariko, Kobayashi, Kazuhiro, Kanagawa, Motoi, Yu, Chih-chieh, Mori, Kouhei, Oda, Tetsuya, Kuga, Atsushi, Kurahashi, Hiroki, Akman, Hasan O., DiMauro, Salvatore, Kaji, Ryuji, Yokota, Toshifumi, Takeda, Shin’ichi, Toda, Tatsushi

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Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation Autor Garcia-Diaz, Beatriz, Barros, Mario H., Sanna-Cherchi, Simone, Emmanuele, Valentina, Akman, Hasan O., Ferreiro-Barros, Claudia C., Horvath, Rita, Tadesse, Saba, El Gharaby, Nader, DiMauro, Salvatore, De Vivo, Darryl C., Shokr, Aly, Hirano, Michio, Quinzii, Catarina M.

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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis Autor Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J

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Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings Autor Mochel, Fanny, Schiffmann, Raphael, Steenweg, Marjan E., Akman, Hasan O., Wallace, Mary, Sedel, Frédéric, Laforêt, Pascal, Levy, Richard, Powers, J. Michael, Demeret, Sophie, Maisonobe, Thierry, Froissart, Roseline, Da Nobrega, Bruno Barcelos, Fogel, Brent L., Natowicz, Marvin R., Lubetzki, Catherine, Durr, Alexandra, Brice, Alexis, Rosenmann, Hanna, Barash, Varda, Kakhlon, Or, Gomori, J. Moshe, van der Knaap, Marjo S., Lossos, Alexander

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