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SaveBiallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza Share Save KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literatureYoganathan, Sangeetha; Whitney, Robyn; Thomas, Maya; Danda, Sumita; Chettali, Akbar Mohamed; Prasad, Asuri N.; Farhan, Sali M. K.; Alsowat, Daad; Abukhaled, Musaad; Aldhalaan, Hesham; Gowda, Vykuntaraju K.; Kinhal, Uddhava V.; Bylappa, Arun Y.; Konanki, Ramesh; Lingappa, Lokesh; Parchuri, Bindu Madhavi; Appendino, Juan P.; Scantlebury, Morris H.; Cunningham, Jessie; Hadjinicolaou, Aristides; El Achkar, Christelle Moufawad; Kamate, Mahesh; Menon, Ramshekhar N.; Jose, Manna; Riordan, Gillian; Kannan, Lakshminarayanan; Jain, Vivek; Manokaran, Ranjith Kumar; Chau, Vann; Donner, Elizabeth J.; Costain, Gregory; Minassian, Berge A.; Jain, Puneet Share Save Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsAllen, James P.; Garber, Kathryn B.; Perszyk, Riley; Khayat, Cara T.; Kell, Steven A.; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L.; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N.; Olewiler, Leah; Mu, Weiyu; Rosenthal, Liana S.; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W.; Jauss, Robin-Tobias; Lemke, Johannes R.; MacLean, David M.; Zhu, Cheng; Yuan, Hongjie; Myers, Scott J.; Traynelis, Stephen F. Share Save Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent EpilepsyCoughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara Share Save Share Save Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodEdvardson, Simon; Nicolae, Claudia M.; Agrawal, Pankaj B.; Mignot, Cyril; Payne, Katelyn; Prasad, Asuri Narayan; Prasad, Chitra; Sadler, Laurie; Nava, Caroline; Mullen, Thomas E.; Begtrup, Amber; Baskin, Berivan; Powis, Zoe; Shaag, Avraham; Keren, Boris; Moldovan, George-Lucian; Elpeleg, Orly Share Save Share Save Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostosesFarhan, Sali M. K.; Wang, Jian; Robinson, John F.; Prasad, Asuri N.; Rupar, C. Anthony; Siu, Victoria M.; Hegele, Robert A. Share Save Share Save Share Save Share Save Share Save Share Save Share Save Share Save Share Save Share Save Share Save Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, CanadaGreenberg, CR; Prasad, AN; Dilling, LA; Thompson, JRG; Haworth, JC; Martin, B; Wood-Steiman, P; Seargeant, LE; Seifert, B; Booth, FA; Prasad, C Share Save 
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