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Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencybiallelic NDUFA9基因变异导致一种进行性神经发育障碍，其特征为明显的肌张力障碍和线粒体复合物I缺乏。Magrinelli, Francesca; Taylor, Lucie S.; Sedighzadeh, Sahar; Moualek, Dalila; Severino, Mariasavina; Grba, Daniel N.; Alston, Charlotte L.; Champion, Michael; Tavasoli, Ali Reza; Lascelles, Karine; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Fateh, Sahand Tehrani; Kordi-Tamandani, Mohammad; Khajeh, Ali; Yaghoubi, Saeedeh; Dominik, Natalia; Babaei, Meisam; Javadzadeh, Mohsen; Varaghchi, Jamileh Rezazadeh; Miryounesi, Mohammad; Ghayoor Karimiani, Ehsan; Tazir, Meriem; Ali Pacha, Lamia; Bhatia, Kailash P.; Taylor, Robert W.; Houlden, Henry; Maroofian, Reza 分享 收藏 Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment双等位基因NDUFA13变异导致神经发育表型，逐渐神经功能缺损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 分享 收藏 Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel casesAlstrup, Morten; Cesca, Fabrizia; Krawczun-Rygmaczewska, Alicja; Lopez-Menendez, Celia; Pose-Utrilla, Julia; Castberg, Filip Christian; Bjerager, Mia Ortved; Finnila, Candice; Kruer, Michael C.; Bakhtiari, Somayeh; Padilla-Lopez, Sergio; Manwaring, Linda; Keren, Boris; Afenjar, Alexandra; Galatolo, Daniele; Scalise, Roberta; Santorelli, Fillippo M.; Shillington, Amelle; Vezain, Myriam; Martinovic, Jelena; Stevens, Cathy; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Thiffault, Isabelle; Pastinen, Tomi; Baranano, Kristin; Lee, Angela; Granadillo, Jorge; Glassford, Megan R.; Keegan, Catherine E.; Matthews, Nicole; Saugier-Veber, Pascale; Iglesias, Teresa; Ostergaard, Elsebet 分享 收藏 Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy顶端神经祖细胞对称细胞分裂的丧失导致DENND5A-related发育和癫痫性脑病Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Abd Elmaksoud, Marwa; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S-Y; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuss, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S. 分享 收藏 Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyClara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Guelec, Ayten; Berger, Colette; Ville, Dorothee M.; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hueseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie 分享 收藏 Diagnostic markers of acute encephalitis syndrome and COVID-associated multisystem inflammatory syndrome in children from Southern IndiaDamodar, Tina; Dunai, Cordelia; Prabhu, Namratha; Jose, Maria; Akhila, L.; Kinhal, Uddhava V.; Anusha Raj, K.; Marate, Srilatha; Lalitha, A. V.; Dsouza, Fulton Sebastian; Sajjan, Sushma Veeranna; Gowda, Vykuntaraju K.; Basavaraja, G. V.; Singh, Bhagteshwar; Prathyusha, P. V.; Tharmaratnam, Kukatharmini; Ravi, Vasanthapuram; Kolamunnage-Dona, Ruwanthi; Solomon, Tom; Turtle, Lance; Yadav, Ravi; Michael, Benedict D.; Mani, Reeta S. 分享 收藏 
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