Not logged in Glutaminase 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 Share Save
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Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype Shalata, Adel; Saada, Ann; Mahroum, Mohammed; Hadid, Yarin; Furman, Chaya; Shalata, Zaher Eldin; Desnick, Robert J.; Lorber, Avraham; Khoury, Asaad; Higazi, Adnan; Shaag, Avraham; Barash, Varda; Spiegel, Ronen; Vlodavsky, Euvgeni; Rustin, Pierre; Pietrokovski, Shmuel; Manov, Irena; Gieger, Dan; Tal, Galit; Salzberg, Adi; Mandel, Hanna Share Save
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS Mendes, Marisa, I; Wolf, Nicole, I; Rudinger-Thirion, Joelle; Lenz, Dominic; Frugier, Magali; Verloo, Patrick; Mandel, Hanna; Manor, Joshua; Kassel, Rachel; Corpeleijn, Willemijn E.; van der Rijt, Sanne; Schroor, Elsbeth M.; van Dooren, Silvy J. M.; Staufner, Christian; Salomons, Gajja S.; Smith, Desiree E. C. Share Save
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1 Patterson, Karynne; Chong, Jessica x.; Chung, Doug d.; Lisch, Walter; Karp, Carol l.; Dreisler, Erling; Lockington, David; Rohrbach, Jens m.; Garczarczyk-asim, Dorota; Mueller, Thomas; Tuft, Stephen j.; Skalicka, Pavlina; Wilnai, Yael; Samra, Nadra naser; Ibrahim, Ali; Mandel, Hanna; Davidson, Alice e.; Liskova, Petra; Aldave, Anthony j.; Bamshad, Michael j.; Janecke, Andreas r. Share Save
Genetic landscape of pediatric acute liver failure of indeterminate origin Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger Share Save
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia Samra, Nadra; Jansen, Nicolette S.; Morani, Ilham; Kakun, Reli Rachel; Zaid, Rinat; Paperna, Tamar; Garcia-Dominguez, Mario; Viner, Yuri; Frankenthal, Hilel; Shinwell, Eric S.; Portnov, Igor; Bakry, Doua; Shalata, Adel; Shapira Rootman, Mika; Kidron, Dvora; Claessens, Laura A.; Wevers, Ron A.; Mandel, Hanna; Vertegaal, Alfred C. O.; Weiss, Karin Share Save
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter Batzios, Spyros; Tal, Galit; DiStasio, Andrew T.; Peng, Yanyan; Charalambous, Christiana; Nicolaides, Paola; Kamsteeg, Erik-Jan; Korman, Stanley H.; Mandel, Hanna; Steinbach, Peter J.; Yi, Ling; Fair, Summer R.; Hester, Mark E.; Drousiotou, Anthi; Kaler, Stephen G. Share Save
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter Kaler, Stephen; Batzios, Spyros; Tal, Galit; DiStasio, Andrew; Peng, Yanyan; Charalambous, Christiana; Nicolaides, Paola; Kamsteeg, Erik-Jan; Korman, Stanley; Mandel, Hanna; Steinbach, Peter; Yi, Ling; Fair, Summer; Heste, Mark; Drousiotou, Anthi Share Save
Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease Bar-Yoseph, Ronen; Tal, Galit; Dumin, Elena; Hanna, Moneera; Mainzer, Gur; Zucker-Toledano, Merav; Shallufi, George; Jahshan, Mira; Mandel, Hanna; Bentur, Lea Share Save
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects Peretz, Hava; Lagziel, Ayala; Bittner, Florian; Kabha, Mustafa; Shtauber-Naamati, Meirav; Zhuravel, Vicki; Usher, Sali; Rump, Steffen; Wollers, Silke; Bork, Bettina; Mandel, Hanna; Falik-Zaccai, Tzipora; Kalfon, Limor; Graessler, Juergen; Zeharia, Avraham; Heib, Nasser; Shalev, Hannah; Landau, Daniel; Levartovsky, David Share Save
Biallelic 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 Share Save
Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients Smets, Francoise; Dobbelaere, Dries; McKiernan, Patrick; Dionisi-Vici, Carlo; Broue, Pierre; Jacquemin, Emmanuel; Lopes, Ana Isabel; Goncalves, Isabel; Mandel, Hanna; Pawlowska, Joanna; Kaminska, Diana; Shteyer, Eyal; Torre, Giuliano; Shapiro, Riki; Eyskens, Francois; Clapuyt, Philippe; Gissen, Paul; Pariente, Daniele; Grunewald, Stephanie; Yudkoff, Marc; Binda, Maria Mercedes; Najimi, Mustapha; Belmonte, Nathalie; de Vos, Beatrice; Thonnard, Joelle; Sokal, Etienne Share Save
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial Bax, Bridget E.; Levene, Michelle; Bain, Murray D.; Fairbanks, Lynette D.; Filosto, Massimiliano; Ucar, Sema Kalkan; Klopstock, Thomas; Kornblum, Cornelia; Mandel, Hanna; Rahman, Shamima; Roubertie, Agathe; Scarpelli, Mauro; Sedgwick, Philip M.; Baru, Moshe; Sellos-Moura, Marcia; Price, Jeanie; Horn, Patrick; Nirmalananthan, Niranjanan Share Save
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy Levene, Michelle; Bain, Murray D.; Moran, Nicholas F.; Nirmalananthan, Niranjanan; Poulton, Joanna; Scarpelli, Mauro; Filosto, Massimiliano; Mandel, Hanna; MacKinnon, Andrew D.; Fairbanks, Lynette; Pacitti, Dario; Bax, Bridget E. Share Save
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies Platzer, Konrad; Sticht, Heinrich; Edwards, Stacey L.; Allen, William; Angione, Kaitlin M.; Bonati, Maria T.; Brasington, Campbell; Cho, Megan T.; Demmer, Laurie A.; Falik-Zaccai, Tzipora; Gamble, Candace N.; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander; Pinz, Hailey; Ramos, Luiza; Shinde, Deepali N.; Smith-Hicks, Constance; Stegmann, Alexander P. A.; Stoebe, Petra; Stumpel, Constance T. R. M.; Wilson, Carolyn; Lemke, Johannes R.; Di Donato, Nataliya; Miller, Kenneth G.; Jamra, Rami Share Save
Severe 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 Share Save
Two 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 Share Save
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment DeBarber, Andrea E.; Kalfon, Limor; Fedida, Ayalla; Sheffer, Vered Fleisher; Ben Haroush, Shani; Chasnyk, Natalia; Biton, Efrat Shuster; Mandel, Hanna; Jeffries, Krystal; Shinwell, Eric S.; Falik-Zaccai, Tzipora C. Share Save
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder Friederich, Marisa W.; Timal, Sharita; Powell, Christopher A.; Dallabona, Cristina; Kurolap, Alina; Palacios-Zambrano, Sara; Bratkovic, Drago; Derks, Terry G. J.; Bick, David; Bouman, Katelijne; Chatfield, Kathryn C.; Damouny-Naoum, Nadine; Dishop, Megan K.; Falik-Zaccai, Tzipora C.; Fares, Fuad; Fedida, Ayalla; Ferrero, Ileana; Gallagher, Renata C.; Garesse, Rafael; Gilberti, Micol; Gonzalez, Cristina; Gowan, Katherine; Habib, Clair; Halligan, Rebecca K.; Kalfon, Limor; Knight, Kaz; Lefeber, Dirk; Mamblona, Laura; Mandel, Hanna; Mory, Adi; Ottoson, John; Paperna, Tamar; Pruijn, Ger J. M.; Rebelo-Guiomar, Pedro F.; Saada, Ann; Sainz, Bruno, Jr.; Salvemini, Hayley; Schoots, Mirthe H.; Smeitink, Jan A.; Szukszto, Maciej J.; ter Horst, Hendrik J.; van den Brandt, Frans; van Spronsen, Francjan J.; Veltman, Joris A.; Wartchow, Eric; Wintjes, Liesbeth T.; Zohar, Yaniv; Fernandez-Moreno, Miguel A.; Baris, Hagit N.; Donnini, Claudia; Minczuk, Michal; Rodenburg, Richard J.; Van Hove, Johan L. K. Share Save
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