Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
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
Published in Annals of neurology (01.12.2013)
Published in Annals of neurology (01.12.2013)
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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
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
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
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Journal Article
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
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
Published in Annals of neurology (01.09.2012)
Published in Annals of neurology (01.09.2012)
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Journal Article
Magnetic metal nanoparticles coated polyacrylonitrile textiles as microwave absorber
Akman, O., Kavas, H., Baykal, A., Toprak, M.S., Çoruh, Ali, Aktaş, B.
Published in Journal of magnetism and magnetic materials (01.02.2013)
Published in Journal of magnetism and magnetic materials (01.02.2013)
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Views about perceived training needs of health care professionals in relation to socially assistive robots: an international online survey
Papadopoulos, Irena, Koulouglioti, C., Lazzarino, R., Ali, S., Wright, S., Martín-García, Á., Oter-Quintana, C., Kouta, C., Rousou, E., Papp, K., Krepinska, R., Tothova, V., Malliarou, M., Apostolara, P., Lesińska-Sawicka, M., Nagórska, M., Liskova, M., Nortvedt, L., Alpers, L.-M., Biglete-Pangilinan, S., Oconer-Rubiano, M.F., Chaisetsampun, W., Wichit, N., Ghassemi, A.-E., Jafarjalal, E., Zorba, A., Kuckert-Wöstheinrich, A., Malla, R., Toda, T., Akman, Ö., Öztürk, C., Puvimanasinghe, T., Ziaian, T., Eldar-Regev, O., Nissim, S.
Published in Contemporary nurse : a journal for the Australian nursing profession (03.09.2023)
Published in Contemporary nurse : a journal for the Australian nursing profession (03.09.2023)
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Journal Article
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
Quinzii, C M, Kattah, A G, Naini, A, Akman, H O, Mootha, V K, DiMauro, S, Hirano, M
Published in Neurology (08.02.2005)
Published in Neurology (08.02.2005)
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Journal Article
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Preisler, N, Orngreen, M C, Echaniz-Laguna, A, Laforet, P, Lonsdorfer-Wolf, E, Doutreleau, S, Geny, B, Akman, H O, Dimauro, S, Vissing, J
Published in Neurology (24.01.2012)
Published in Neurology (24.01.2012)
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Journal Article
Editorial: Using Small Molecules to Treat Macromolecule Storage Disorders
Kakhlon, Or, Escriba, Pablo V, Akman, Hasan O, Weil, Miguel
Published in Frontiers in cell and developmental biology (27.11.2020)
Published in Frontiers in cell and developmental biology (27.11.2020)
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Journal Article
Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
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
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Journal Article
Cellular response to hypoxia involves signaling via Smad proteins
Zhang, Hong, Akman, Hasan O., Smith, Eric L.P., Zhao, Jin, Murphy-Ullrich, Joanne E., Batuman, Olcay A.
Published in Blood (15.03.2003)
Published in Blood (15.03.2003)
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Journal Article
Obstacles to compassion‐giving among nursing and midwifery managers: an international study
Papadopoulos, I., Lazzarino, R., Koulouglioti, C., Aagard, M., Akman, Ö., Alpers, L.‐M., Apostolara, P., Araneda Bernal, J., Biglete‐Pangilinan, S., Eldar‐Regev, O., González‐Gil, M.T., Kouta, C., Krepinska, R., Lesińska‐Sawicka, M., Liskova, M., Lopez‐Diaz, A. L., Malliarou, M., Martín‐García, Á., Muñoz‐Salinas, M., Nagórska, M., Ngunyulu, R.N., Nissim, S., Nortvedt, L., Oconer‐Rubiano, M.F., Oter‐Quintana, C., Öztürk, C., Papp, K., Piratoba‐Hernandez, B., Rousou, E., Tolentino‐Diaz, M. Y., Tothova, V., Zorba, A.
Published in International nursing review (01.12.2020)
Published in International nursing review (01.12.2020)
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3,3 diindolylmethane leads to apoptosis, decreases sperm quality, affects blood estradiol 17 β and testosterone, oestrogen (α and β) and androgen receptor levels in the reproductive system in male rats
Aksu, E. H., Akman, O., Ömür, A. D., Karakuş, E., Can, İ., Kandemir, F. M., Dorman, E., Uçar, Ö.
Published in Andrologia (01.12.2016)
Published in Andrologia (01.12.2016)
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Journal Article
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
Ørngreen, 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
Published in Neurology (13.05.2008)
Published in Neurology (13.05.2008)
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Circulating endothelial progenitor cells in multiple myeloma: implications and significance
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.
Published in Blood (15.04.2005)
Published in Blood (15.04.2005)
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The Input Signal Step Function (ISSF), a Standard Method to Encode Input Signals in SBML Models with Software Support, Applied to Circadian Clock Models
Adams, R.R., Tsorman, N., Stratford, K., Akman, O.E., Gilmore, S., Juty, N., Le Novère, N., Millar, A.J., Millar, A.J.
Published in Journal of biological rhythms (01.08.2012)
Published in Journal of biological rhythms (01.08.2012)
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