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2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA plus ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy Peck, A.; Dadi, A.; Yavarow, Z.; Alfano, L. N.; Anderson, D.; Arkin, M. R.; Chou, T. F.; D'Ambrosio, E. S.; Diaz-Manera, J.; Dudley, J. P.; Elder, A. G.; Ghoshal, N.; Hart, C. E.; Hart, M. M.; Huryn, D. M.; Johnson, A. E.; Jones, K. B.; Kimonis, V.; Kiskinis, E.; Lee, E. B.; Lloyd, T. E.; Mapstone, M.; Martin, A.; Meyer, H.; Mozaffar, T.; Onyike, C. U.; Pfeffer, G.; Pindon, A.; Raman, M.; Richard, I.; Rubinsztein, D. C.; Schiava, M.; Schuetz, A. K.; Shen, P. S.; Southworth, D. R.; Staffaroni, A. M.; Taralio-Gravovac, M.; Weihl, C. C.; Yao, Q.; Ye, Y.; Peck, N. 分享 收藏
Loss of TDP-43 Splicing Repression Occurs in Myonuclei of Inclusion Body Myositis Patients Ikenaga, Chiseko; Wilson, Andrew B.; Irwin, Katherine E.; Mallika, Aswathy Peethambaran; Kilgore, Collin; Sinha, Irika R.; Michelle, Elizabeth H.; Ling, Jonathan P.; Wong, Philip C.; Lloyd, Thomas E. 分享 收藏
Seeding-competent TDP-43 persists in human patient and mouse muscle Lynch, Eileen M.; Pittman, Sara; Daw, Jil; Ikenaga, Chiseko; Chen, Sheng; Dhavale, Dhruva D.; Jackrel, Meredith E.; Ayala, Yuna M.; Kotzbauer, Paul; Ly, Cindy V.; Pestronk, Alan; Lloyd, Thomas E.; Weihl, Conrad C. 分享 收藏
Cell type mapping of inflammatory muscle diseases highlights selective myofiber vulnerability in inclusion body myositis Wischnewski, Sven; Thaewel, Thomas; Ikenaga, Chiseko; Kocharyan, Anna; Lerma-Martin, Celia; Zulji, Amel; Rausch, Hans-Werner; Brenner, David; Thomas, Leonie; Kutza, Michael; Wick, Brittney; Trobisch, Tim; Preusse, Corinna; Haeussler, Maximilian; Leipe, Jan; Ludolph, Albert; Rosenbohm, Angela; Hoke, Ahmet; Platten, Michael; Weishaupt, Jochen H.; Sommer, Clemens J.; Stenzel, Werner; Lloyd, Thomas E.; Schirmer, Lucas 分享 收藏
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Identification of Unique microRNA Profiles in Different Types of Idiopathic Inflammatory Myopathy Munoz-Braceras, Sandra; Pinal-Fernandez, Iago; Casal-Dominguez, Maria; Pak, Katherine; Milisenda, Jose Cesar; Lu, Shajia; Gadina, Massimo; Naz, Faiza; Gutierrez-Cruz, Gustavo; Dell'Orso, Stefania; Torres-Ruiz, Jiram; Grau-Junyent, Josep Maria; Selva-O'Callaghan, Albert; Paik, Julie J.; Albayda, Jemima; Christopher-Stine, Lisa; Lloyd, Thomas E.; Corse, Andrea M.; Mammen, Andrew L. 分享 收藏
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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants 由于GJB1变异引起的charcot-marie-tooth病CMTX1的遗传分析和自然史 Record, Christopher J.; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M.; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M. E.; Lloyd, Thomas E.; Horvath, Rita; Sadjadi, Reza; Herrmann, David N.; Li, Jun; Walk, David; Yum, Sabrina W.; Lewis, Richard A.; Day, John; Burns, Joshua; Finkel, Richard S.; Saporta, Mario A.; Ramchandren, Sindhu; Weiss, Michael D.; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M.; Zuchner, Stephan; Shy, Michael E.; Scherer, Steven S.; Reilly, Mary M. 分享 收藏
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Clinical Subgroups and Factors Associated With Progression in Patients With Inclusion Body Myositis Michelle, Elizabeth Harlan; Pinal-Fernandez, Iago; Casal-Dominguez, Maria; Albayda, Jemima; Paik, Julie J.; Tiniakou, Eleni; Adler, Brittany; Mecoli, Christopher A.; Danoff, Sonye K.; Christopher-Stine, Lisa; Mammen, Andrew L.; Lloyd, Thomas E. 分享 收藏
Coordinated local RNA overexpression of complement induced by interferon gamma in myositis Casal-Dominguez, Maria; Pinal-Fernandez, Iago; Pak, Katherine; Munoz-Braceras, Sandra; Milisenda, Jose C.; Torres-Ruiz, Jiram; Dell'Orso, Stefania; Naz, Faiza; Gutierrez-Cruz, Gustavo; Duque-Jaimez, Yaiza; Matas-Garcia, Ana; Valls-Roca, Laura; Garrabou, Gloria; Trallero-Araguas, Ernesto; Walitt, Brian; Christopher-Stine, Lisa; Lloyd, Thomas E.; Paik, Julie J.; Albayda, Jemima; Corse, Andrea; Grau, Josep Maria; Selva-O'Callaghan, Albert; Mammen, Andrew L. 分享 收藏
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laura, Matilde; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N.; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J.; Lloyd, Thomas E.; Day, John; Siskind, Carly E.; Yum, Sabrina W.; Sadjadi, Reza; Finkel, Richard S.; Scherer, Steven S.; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E. 分享 收藏
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Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins Gao, Junli; Mewborne, Quinlan T.; Girdhar, Amandeep; Sheth, Udit; Coyne, Alyssa N.; Punathil, Ritika; Kang, Bong Gu; Dasovich, Morgan; Veire, Austin; Hernandez, Mariely DeJesus; Liu, Shuaichen; Shi, Zheng; Dafinca, Ruxandra; Fouquerel, Elise; Talbot, Kevin; Kam, Tae-In; Zhang, Yong-Jie; Dickson, Dennis; Petrucelli, Leonard; Van Blitterswijk, Marka; Guo, Lin; Dawson, Ted M.; Dawson, Valina L.; Leung, Anthony K. L.; Lloyd, Thomas E.; Gendron, Tania F.; Rothstein, Jeffrey D.; Zhang, Ke 分享 收藏
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Phage display of environmental protein toxins and virulence factors reveals the prevalence, persistence, and genetics of antibody responses Angkeow, Julia W.; Monaco, Daniel R.; Chen, Athena; Venkataraman, Thiagarajan; Jayaraman, Sahana; Valencia, Cristian; Sie, Brandon M.; Liechti, Thomas; Farhadi, Payam N.; Funez-dePagnier, Gabriela; Sherman-Baust, Cheryl A.; Wong, May Q.; Ruczinski, Ingo; Caturegli, Patrizio; Sears, Cynthia L.; Simner, Patricia J.; Round, June L.; Duggal, Priya; Laserson, Uri; Steiner, Theodore S.; Sen, Ranjan; Lloyd, Thomas E.; Roederer, Mario; Mammen, Andrew L.; Longman, Randy S.; Rider, Lisa G.; Larman, H. Benjamin 分享 收藏
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul 分享 收藏
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