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Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development Gunasekaran, Mekala; Littel, Hannah R.; Wells, Natalya M.; Turner, Johnnie; Campos, Gloriana; Venigalla, Sree; Estrella, Elicia A.; Ghosh, Partha S.; Daugherty, Audrey L.; Stafki, Seth A.; Kunkel, Louis M.; Foley, A. Reghan; Donkervoort, Sandra; Bonnemann, Carsten G.; de Laguna, Laura Toledo-Bravo; Nascimento, Andres; Natera-de Benito, Daniel; Draper, Isabelle; Bruels, Christine C.; Pacak, Christina A.; Kang, Peter B. 分享 收藏
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy Nascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bonnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel 分享 收藏
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy Bruels, Christine C.; Littel, Hannah R.; Daugherty, Audrey L.; Stafki, Seth; Estrella, Elicia A.; McGaughy, Emily S.; Truong, Don; Badalamenti, Jonathan P.; Pais, Lynn; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Stalker, Heather J.; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J. L. F.; van der Maarel, Silvere M.; Laine, Regina; Ghosh, Partha S.; Darras, Basil T.; Zingariello, Carla D.; Pacak, Christina A.; Kunkel, Louis M.; Kang, Peter B. 分享 收藏
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Hauserman, Janelle Geist; Cummings, Beryl B.; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S.; Ghosh, Partha S.; Monaghan, Kristin G.; Edassery, Seby L.; Ferle, Pia E.; Silverstein, Sarah; Chao, Katherine R.; Snyder, Molly; Ellingwood, Sara; Bharucha-Goebel, Diana; Iannaccone, Susan T.; Dal Peraro, Matteo; Foley, A. Reghan; Savas, Jeffrey N.; Bolduc, Veronique; Fasshauer, Dirk; Bonnemann, Carsten G.; Schwake, Michael 分享 收藏
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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schoeneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten; Senderek, Jan 分享 收藏
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