GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
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
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
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
Published in EMBO molecular medicine (07.10.2021)
Published in EMBO molecular medicine (07.10.2021)
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Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease
Morcillo, Patricia, Kabra, Khushbu, Velasco, Kevin, Cordero, Hector, Jennings, Sarah, Yun, Taekyung D, Larrea, Delfina, Akman, H Orhan, Schon, Eric A
Published in Cell death & disease (10.06.2024)
Published in Cell death & disease (10.06.2024)
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A novel mouse model that recapitulates adult-onset glycogenosis type 4
Orhan Akman, H, Emmanuele, Valentina, Kurt, Yasemin Gülcan, Kurt, Bülent, Sheiko, Tatiana, DiMauro, Salvatore, Craigen, William J
Published in Human molecular genetics (01.12.2015)
Published in Human molecular genetics (01.12.2015)
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A new muscle glycogen storage disease associated with glycogenin-1 deficiency
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
Published in Annals of neurology (01.12.2014)
Published in Annals of neurology (01.12.2014)
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Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease
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, Schiffmann, Raphael, DiMauro, Salvatore, Lossos, Alexander, Minassian, Berge A
Published in JAMA neurology (01.04.2015)
Published in JAMA neurology (01.04.2015)
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A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome
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
Published in Journal of inherited metabolic disease (01.09.2018)
Published in Journal of inherited metabolic disease (01.09.2018)
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Mitochondrial abnormalities in temporal lobe of autistic brain
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
Published in Neurobiology of disease (01.06.2013)
Published in Neurobiology of disease (01.06.2013)
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Aurora kinase A inhibition reverses the Warburg effect and elicits unique metabolic vulnerabilities in glioblastoma
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.
Published in Nature communications (01.09.2021)
Published in Nature communications (01.09.2021)
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Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency
Lopez‐Gomez, Carlos, Sanchez‐Quintero, Maria J., Lee, Eung Jeon, Kleiner, Gulio, Tadesse, Saba, Xie, Jun, Akman, Hasan Orhan, Gao, Guangping, Hirano, Michio
Published in Annals of neurology (01.10.2021)
Published in Annals of neurology (01.10.2021)
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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
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
Published in European journal of immunology (01.06.2008)
Published in European journal of immunology (01.06.2008)
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GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease
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.
Published in Annals of clinical and translational neurology (01.11.2020)
Published in Annals of clinical and translational neurology (01.11.2020)
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Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders
Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle, Carvalho, Alzira Alves de Siqueira, Akman, Hasan Orhan, de Souza, Paulo Victor Sgobbi
Published in Frontiers in neurology (25.07.2023)
Published in Frontiers in neurology (25.07.2023)
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MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics
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
Published in Human molecular genetics (01.06.2019)
Published in Human molecular genetics (01.06.2019)
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Adult polyglucosan body disease presenting as a unilateral progressive plexopathy
Naddaf, Elie, Kassardjian, Charles D., Kurt, Yasemin Gulcan, Akman, Hasan Orhan, Windebank, Anthony J.
Published in Muscle & nerve (01.06.2016)
Published in Muscle & nerve (01.06.2016)
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Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
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.
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Prenatal diagnosis of glycogen storage disease type IV
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.
Published in Prenatal diagnosis (01.10.2006)
Published in Prenatal diagnosis (01.10.2006)
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O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV
Koch, Rebecca, Soler-Alfonso, Claudia, Kiely, Bridget, Asai, Akihiro, Smith, Ariana, Bali, Deeksha, Kang, Peter, Landstrom, Andrew, Akman, H. Orhan, Burrow, T. Andrew, Orthmann-Murphy, Jennifer, Goldman, Deberah, Pendyal, Surekha, El-Gharbawy, Areeg, Austin, Stephanie, Case, Laura, Schiffmann, Raphael, Hirano, Michio, Kishnani, Priya
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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