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Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills Kayani, Saima; Bordesedgar, Veronica; Lowden, Andrea; Nettesheim, Emily R.; Dahshi, Hamza; Messahel, Souad; Minassian, Berge A.; Greenberg, Benjamin M. 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
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient 针对50型遗传性痉挛性截瘫的AAV基因治疗：单例患者I期临床试验 Dowling, James J.; Pirovolakis, Terry; Devakandan, Keshini; Stosic, Ana; Pidsadny, Mia; Nigro, Elisa; Sahin, Mustafa; Ebrahimi-Fakhari, Darius; Messahel, Souad; Varadarajan, Ganapathy; Greenberg, Benjamin M.; Chen, Xin; Minassian, Berge A.; Cohn, Ronald; Bonnemann, Carsten G.; Gray, Steven J. 分享 收藏
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KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature Yoganathan, 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 分享 收藏
Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model Gys1反义疗法可预防Lafora病小鼠模型中的疾病驱动聚集物和癫痫样放电 Donohue, Katherine J.; Fitzsimmons, Bethany; Bruntz, Ronald C.; Markussen, Kia H.; Young, Lyndsay E. A.; Clarke, Harrison A.; Coburn, Peyton T.; Griffith, Laiken E.; Sanders, William; Klier, Jack; Burke, Sara N.; Maurer, Andrew P.; Minassian, Berge A.; Sun, Ramon C.; Kordasiewisz, Holly B.; Gentry, Matthew S. 分享 收藏
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Laforin Negatively Regulates Cell Cycle Progression through Glycogen Synthase Kinase 3β-Dependent Mechanisms Liu, Runhua; Wang, Lizhong; Chen, Chong; Liu, Yan; Zhou, Penghui; Wang, Yin; Wang, Xirui; Turnbull, Julie; Minassian, Berge A.; Liu, Yang; Zheng, Pan 分享 收藏
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Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy Mitra, Sharmistha; Chen, Baozhi; Wang, Peixiang; Chown, Erin E.; Dear, Mathew; Guisso, Dikran R.; Mariam, Ummay; Wu, Jun; Gumusgoz, Emrah; Minassian, Berge A. 分享 收藏
The role of common genetic variation in presumed monogenic epilepsies Campbell, Ciaran; Leu, Costin; Feng, Yen-Chen Anne; Wolking, Stefan; Moreau, Claudia; Ellis, Colin; Ganesan, Shiva; Martins, Helena; Oliver, Karen; Boothman, Isabelle; Benson, Katherine; Molloy, Anne; Brody, Lawrence; Michaud, Jacques L.; Hamdan, Fadi F.; Minassian, Berge A.; Lerche, Holger; Scheffer, Ingrid E.; Sisodiya, Sanjay; Girard, Simon; Cosette, Patrick; Delanty, Norman; Lal, Dennis; Cavalleri, Gianpiero L. 分享 收藏
Assessment of burden and segregation profiles of CNVs in patients with epilepsy Moreau, Claudia; Tremblay, Frederique; Wolking, Stefan; Girard, Alexandre; Laprise, Catherine; Hamdan, Fadi F.; Michaud, Jacques L.; Minassian, Berge A.; Cossette, Patrick; Girard, Simon L. 分享 收藏
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Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency Nitschke, Silvia; Sullivan, Mitchell A.; Mitra, Sharmistha; Marchioni, Charlotte R.; Lee, Jennifer P. Y.; Smith, Brandon H.; Ahonen, Saija; Wu, Jun; Chown, Erin E.; Wang, Peixiang; Petkovic, Sara; Zhao, Xiaochu; DiGiovanni, Laura F.; Perri, Ami M.; Israelian, Lori; Grossman, Tamar R.; Kordasiewicz, Holly; Vilaplana, Francisco; Iwai, Kazuhiro; Nitschke, Felix; Minassian, Berge A. 分享 收藏
Canine Lafora Disease: An Unstable Repeat Expansion Disorder von Klopmann, Thilo; Ahonen, Saija; Espadas-Santiuste, Irene; Matiasek, Kaspar; Sanchez-Masian, Daniel; Rupp, Stefan; Vandenberghe, Helene; Rose, Jeremy; Wang, Travis; Wang, Peixiang; Minassian, Berge Arakel; Rusbridge, Clare 分享 收藏
Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease Gys1反义治疗可挽救小鼠Lafora病的神经病理基础 Ahonen, Saija; Nitschke, Silvia; Grossman, Tamar R.; Kordasiewicz, Holly; Wang, Peixiang; Zhao, Xiaochu; Guisso, Dikran R.; Kasiri, Sahba; Nitschke, Felix; Minassian, Berge A. 分享 收藏
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 意大利Lafora病队列: 临床特征，疾病演变和基因型-表型相关性 Riva, Antonella; Orsini, Alessandro; Scala, Marcello; Taramasso, Vittoria; Canafoglia, Laura; d'Orsi, Giuseppe; Di Claudio, Maria Teresa; Avolio, Carlo; D'Aniello, Alfredo; Elia, Maurizio; Franceschetti, Silvana; Di Gennaro, Giancarlo; Bisulli, Francesca; Tinuper, Paolo; Tappata, Maria; Romeo, Antonino; Freri, Elena; Marini, Carla; Costa, Cinzia; Sofia, Vito; Ferlazzo, Edoardo; Magaudda, Adriana; Veggiotti, Pierangelo; Gennaro, Elena; Pistorio, Angela; Minetti, Carlo; Bianchi, Amedeo; Striano, Salvatore; Michelucci, Roberto; Zara, Federico; Minassian, Berge Arakel; Striano, Pasquale 分享 收藏
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