Not logged inGlutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity
van Kuilenburg, Andre B. P.; Mandel, Hanna; Moady, Tameemi Abdalla; Sloma, Ronen; Fedida, Ayalla; Leen, Rene; Jansen-Meijer, Judith; Paperna, Tamar; Sheffer, Vered Fleisher; Dobritzsch, Doreen; Hochwald, Ori; van der Wel, Nicole N.; Grootemaat, Anita E.; Chulsky, Semyon; Rootman, Mika S.; Eran, Ayelet; Yousef, Maha A.; Dinwiddie, April; Manor, Joshua; Van Karnebeek, Clara D. M.; Kalfon, Limor; Hershkovitz, Tova; Tal, Galit; Zaccai, Tzipora C. Falik
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SaveBariatric Surgery-Associated Myelopathy
Asakly, Sewar; Magen-Rimon, Ramit; Ighbariya, Ahmad; Marjih-Shallufi, Miriam; Ben-Pora, Tair; Ravid, Sarit; Eran, Ayelet; Gepstein, Vardit; Hanna, Suhair; Weiss, Ram
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SaveBiallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
Esposito, Alessandro; Falace, Antonio; Wagner, Matias; Gal, Moran; Mei, Davide; Conti, Valerio; Pisano, Tiziana; Aprile, Davide; Cerullo, Maria Sabina; De Fusco, Antonio; Giovedi, Silvia; Seibt, Annette; Magen, Daniella; Polster, Tilman; Eran, Ayelet; Stenton, Sarah L.; Fiorillo, Chiara; Ravid, Sarit; Mayatepek, Ertan; Hafner, Hava; Wortmann, Saskia; Levanon, Erez Y.; Marini, Carla; Mandel, Hanna; Benfenati, Fabio; Distelmaier, Felix; Fassio, Anna; Guerrini, Renzo
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SaveSevere infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
Zehavi, Yoav; Mandel, Hanna; Eran, Ayelet; Ravid, Sarit; Abu Rashid, Muhammad; Jansen, Erwin E. W.; Wamelink, Mirjam M. C.; Saada, Ann; Shaag, Avraham; Elpeleg, Orly; Spiegel, Ronen
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SaveTwo separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder
Chen, Chih-Wei; Wang, Hong-Ling; Huang, Ching-Wen; Huang, Chang-Yu; Lim, Wai Keong; Tu, I-Chen; Koorapati, Atmaja; Hsieh, Sung-Tsang; Kan, Hung-Wei; Tzeng, Shiou-Ru; Liao, Jung-Chi; Chong, Weng Man; Naroditzky, Inna; Kidron, Dvora; Eran, Ayelet; Nijim, Yousif; Sela, Ella; Feldman, Hagit Baris; Kalfon, Limor; Raveh-Barak, Hadas; Falik-Zaccai, Tzipora C.; Elpeleg, Orly; Mandel, Hanna; Chang, Zee-Fen
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