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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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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Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease von Morcillo, Patricia, Kabra, Khushbu, Velasco, Kevin, Cordero, Hector, Jennings, Sarah, Yun, Taekyung D., Larrea, Delfina, Akman, H. Orhan, Schon, Eric A.

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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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A novel mouse model that recapitulates adult-onset glycogenosis type 4 von Orhan Akman, H, Emmanuele, Valentina, Kurt, Yasemin Gülcan, Kurt, Bülent, Sheiko, Tatiana, DiMauro, Salvatore, Craigen, William J

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Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency von Vissing, John, Akman, H Orhan, Aasly, Jan, Kahler, Stephen G, Bacino, Carlos A, DiMauro, Salvatore, Haller, Ronald G

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Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease von Akman, H. Orhan, Kakhlon, Or, Coku, Jorida, Peverelli, Lorenzo, Rosenmann, Hanna, Rozenstein-Tsalkovich, Lea, Turnbull, Julie, Meiner, Vardiella, Chama, Liat, Lerer, Israela, Shpitzen, Shoshi, Leitersdorf, Eran, Paradas, Carmen, Wallace, Mary, Schiffman, Raphael, DiMauro, Salvatore, Lossos, Alexander, Minassian, Berge A

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A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome von Schiffmann, Raphael, Wallace, Mary E., Rinaldi, Daisy, Ledoux, Isabelle, Luton, Marie-Pierre, Coleman, Scott, Akman, H. Orhan, Martin, Karine, Hogrel, Jean-Yves, Blankenship, Derek, Turner, Jacob, Mochel, Fanny

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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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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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Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV von Akman, H. Orhan, Sheiko, Tatiana, Tay, Stacey K.H., Finegold, Milton J., DiMauro, Salvatore, Craigen, William J.

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Selective activation, expansion, and monitoring of human iNKT cells with a monoclonal antibody specific for the TCR α‐chain CDR3 loop von Exley, Mark A., Hou, Runhua, Shaulov, Angela, Tonti, Elena, Dellabona, Paolo, Casorati, Giulia, Akbari, Omid, Akman, H. Orhan, Greenfield, Edward A., Gumperz, Jenny E., Boyson, Jonathan E., Balk, Steven P., Wilson, S. Brian

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GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease von Chown, Erin E., Wang, Peixiang, Zhao, Xiaochu, Crowder, Justin J., Strober, Jordan W., Sullivan, Mitchell A., Xue, Yunlin, Bennett, Cody S., Perri, Ami M., Evers, Bret M., Roach, Peter J., Depaoli‐Roach, Anna A., Akman, H. Orhan, Pederson, Bartholomew A., Minassian, Berge A.

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MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics von Larrea, Delfina, Pera, Marta, Gonnelli, Adriano, Quintana–Cabrera, Rubén, Akman, H Orhan, Guardia-Laguarta, Cristina, Velasco, Kevin R, Area-Gomez, Estela, Dal Bello, Federica, De Stefani, Diego, Horvath, Rita, Shy, Michael E, Schon, Eric A, Giacomello, Marta

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Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders von Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle, Carvalho, Alzira Alves de Siqueira, Akman, Hasan Orhan, de Souza, Paulo Victor Sgobbi

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Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4 von Hildick-Smith, Gordon J., Cooney, Jeffrey D., Garone, Caterina, Kremer, Laura S., Haack, Tobias B., Thon, Jonathan N., Miyata, Non, Lieber, Daniel S., Calvo, Sarah E., Akman, H. Orhan, Yien, Yvette Y., Huston, Nicholas C., Branco, Diana S., Shah, Dhvanit I., Freedman, Matthew L., Koehler, Carla M., Italiano, Joseph E., Merkenschlager, Andreas, Beblo, Skadi, Strom, Tim M., Meitinger, Thomas, Freisinger, Peter, Donati, M. Alice, Prokisch, Holger, Mootha, Vamsi K., DiMauro, Salvatore, Paw, Barry H.

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Adult polyglucosan body disease presenting as a unilateral progressive plexopathy von Naddaf, Elie, Kassardjian, Charles D., Kurt, Yasemin Gulcan, Akman, Hasan Orhan, Windebank, Anthony J.

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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource von Koch, Rebecca L., Soler-Alfonso, Claudia, Kiely, Bridget T., Asai, Akihiro, Smith, Ariana L., Bali, Deeksha S., Kang, Peter B., Landstrom, Andrew P., Akman, H. Orhan, Burrow, T. Andrew, Orthmann-Murphy, Jennifer L., Goldman, Deberah S., Pendyal, Surekha, El-Gharbawy, Areeg H., Austin, Stephanie L., Case, Laura E., Schiffmann, Raphael, Hirano, Michio, Kishnani, Priya S.

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Prenatal diagnosis of glycogen storage disease type IV von Akman, H. Orhan, Karadimas, Charalampos, Gyftodimou, Yolanda, Grigoriadou, Maria, Kokotas, Haris, Konstantinidou, Anastasia, Anninos, Hector, Patsouris, Efstratios, Thaker, Harshwardhan M., Kaplan, Jeffrey B., Besharat, Isaam, Hatzikonstantinou, Konstantina, Fotopoulos, Spyridon, DiMauro, Salvatore, Petersen, Michael B.

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