Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 von Nilsson, Johanna, Schoser, Benedikt, Laforet, Pascal, Kalev, Ognian, Lindberg, Christopher, Romero, Norma B., Dávila López, Marcela, Akman, Hasan O., Wahbi, Karim, Iglseder, Stephan, Eggers, Christian, Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders

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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy von 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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GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes von Souza, Paulo Victor Sgobbi, Badia, Bruno Mattos Lombardi, Farias, Igor Braga, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle, Akman, Hasan Orhan, DiMauro, Salvatore

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Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency von 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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Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings von 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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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism von Kakhlon, Or, Vaknin, Hilla, Mishra, Kumudesh, D’Souza, Jeevitha, Marisat, Monzer, Sprecher, Uri, Wald‐Altman, Shane, Dukhovny, Anna, Raviv, Yuval, Da’adoosh, Benny, Engel, Hamutal, Benhamron, Sandrine, Nitzan, Keren, Sweetat, Sahar, Permyakova, Anna, Mordechai, Anat, Akman, Hasan Orhan, Rosenmann, Hanna, Lossos, Alexander, Tam, Joseph, Minassian, Berge A., Weil, Miguel

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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis von 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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Optimal Design of an In-flight Refueling Door Mechanism von AKMAN, Hasan, TURGUT, Ali Emre, ÇALIŞKAN, Hakan

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Branching Enzyme Deficiency: Expanding the Clinical Spectrum von 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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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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Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation von GARCIA-DIAZ, Beatriz, BARROS, Mario H, DE VIVO, Darryl C, SHOKR, Aly, HIRANO, Michio, QUINZII, Catarina M, SANNA-CHERCHI, Simone, EMMANUELE, Valentina, AKMAN, Hasan O, FERREIRO-BARROS, Claudia C, HORVATH, Rita, TADESSE, Saba, EL GHARABY, Nader, DIMAURO, Salvatore

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Aurora kinase A inhibition reverses the Warburg effect and elicits unique metabolic vulnerabilities in glioblastoma von Nguyen, Trang T. T., Shang, Enyuan, Shu, Chang, Kim, Sungsoo, Mela, Angeliki, Humala, Nelson, Mahajan, Aayushi, Yang, Hee Won, Akman, Hasan Orhan, Quinzii, Catarina M., Zhang, Guoan, Westhoff, Mike-Andrew, Karpel-Massler, Georg, Bruce, Jeffrey N., Canoll, Peter, Siegelin, Markus D.

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Mitochondrial abnormalities in temporal lobe of autistic brain von Tang, Guomei, Gutierrez Rios, Puri, Kuo, Sheng-Han, Akman, Hasan Orhan, Rosoklija, Gorazd, Tanji, Kurenai, Dwork, Andrew, Schon, Eric A, DiMauro, Salvatore, Goldman, James, Sulzer, David

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Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice von 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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Editorial: Using Small Molecules to Treat Macromolecule Storage Disorders von Kakhlon, Or, Escriba, Pablo V, Akman, Hasan O, Weil, Miguel

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Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency von Lopez‐Gomez, Carlos, Sanchez‐Quintero, Maria J., Lee, Eung Jeon, Kleiner, Gulio, Tadesse, Saba, Xie, Jun, Akman, Hasan Orhan, Gao, Guangping, Hirano, Michio

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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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Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency von 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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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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Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance von 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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