未登录 Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center Basiri, Mohsen; Ghaffari, Mohammad E.; Ruan, Jiapeng; Murugesan, Vagishwari; Kleytman, Nathaniel; Belinsky, Glenn; Akhavan, Amir; Lischuk, Andrew; Guo, Lilu; Klinger, Katherine; Mistry, Pramod K. 分享 收藏
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Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy Boddupalli, Chandra Sekhar; Nair, Shiny; Belinsky, Glenn; Gans, Joseph; Teeple, Erin; Tri-Hung Nguyen; Mehta, Sameet; Guo, Lilu; Kramer, Martin L.; Ruan, Jiapeng; Wang, Honggge; Davison, Matthew; Kumar, Dinesh; Vidyadhara, D. J.; Zhang, Bailin; Klinger, Katherine; Mistry, Pramod K. 分享 收藏
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Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice Husson, Herve; Bukanov, Nikolay O.; Moreno, Sarah; Smith, Mandy M.; Richards, Brenda; Zhu, Cheng; Picariello, Tyler; Park, Hyejung; Wang, Bing; Natoli, Thomas A.; Smith, Laurie A.; Zanotti, Stefano; Russo, Ryan J.; Madden, Stephen L.; Klinger, Katherine W.; Modur, Vijay; Ibraghimov-Beskrovnaya, Oxana 分享 收藏
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 Glascock, Jacqueline; Sampson, Jacinda; Connolly, Anne M.; Darras, Basil T.; Day, John W.; Finkel, Richard; Howell, R. Rodney; Klinger, Katherine W.; Kuntz, Nancy; Prior, Thomas; Shieh, Perry B.; Crawford, Thomas O.; Kerr, Douglas; Jarecki, Jill 分享 收藏
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Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients Palermo, A. T.; Palmer, R. E.; So, K. S.; Oba-Shinjo, S. M.; Zhang, M.; Richards, B.; Madhiwalla, S. T.; Finn, P. F.; Hasegawa, A.; Ciociola, K. M.; Pescatori, M.; McVie-Wylie, A. J.; Mattaliano, R. J.; Madden, S. L.; Marie, S. K. N.; Klinger, K. W.; Pomponio, R. J. 分享 收藏
Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease Natoli, Thomas A.; Husson, Herve; Rogers, Kelly A.; Smith, Laurie A.; Wang, Bing; Budman, Yeva; Bukanov, Nikolay O.; Ledbetter, Steven R.; Klinger, Katherine W.; Leonard, John P.; Ibraghimov-Beskrovnaya, Oxana 分享 收藏
Inhibiting glycogen biosynthesis by mTORC1 suppression as an adjunct therapy for Pompe disease Moreland, Rodney; Taylor, Kristin; Ashe, Karen; Meyers, Elizabeth; Ellis, Allen; Jingozyan, Varvara; Finn, Patrick; Cheng, Seng; Klinger, Katherine; Marshall, John; McPherson, John; Mattaliano, Robert; Scheule, Ronald 分享 收藏
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease Ashe, Karen M.; Taylor, Kristin M.; Chu, Qiuming; Meyers, Elizabeth; Ellis, Allen; Jingozyan, Varvara; Klinger, Katherine; Finn, Patrick F.; Cooper, Christopher G. F.; Chuang, Wei-Lien; Marshall, John; McPherson, John M.; Mattaliano, Robert J.; Cheng, Seng H.; Scheule, Ronald K.; Moreland, Rodney J. 分享 收藏
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Knockdown of human deubiquitinase PSMD14 induces cell cycle arrest and senescence Byrne, Ann; McLaren, Rajashree A.; Mason, Paul; Chai, Lilly; Dufault, Michael R.; Huang, Yinyin; Liang, Beirong; Gans, Joseph D.; Zhang, Mindy; Carter, Kara; Gladysheva, Tatiana B.; Teicher, Beverly A.; Biemann, Hans-Peter N.; Booker, Michael; Goldberg, Mark A.; Klinger, Katherine W.; Lillie, James; Madden, Stephen L.; Jiang, Yide 分享 收藏
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Protein tyrosine phosphatase PRL-3 in malignant cells and endothelial cells: expression and function Rouleau, C; Roy, A; St Martin, T; Dufault, MR; Boutin, P; Liu, DP; Zhang, M; Puorro-Radzwill, K; Rulli, L; Reczek, D; Bagley, R; Byrne, A; Weber, W; Roberts, B; Klinger, K; Brondyk, W; Nacht, M; Madden, S; Burrier, R; Shankara, S; Teicher, BA 分享 收藏
Alterations in vascular gene expression in invasive breast carcinoma Parker, BS; Argani, P; Cook, BP; Han, LF; Chartrand, SD; Zhang, M; Saha, S; Bardelli, A; Jiang, Y; Martin, TBS; Nacht, M; Teicher, BA; Klinger, KW; Sukumar, S; Madden, SL 分享 收藏
New insights into ADPKD molecular pathways using combination of SAGE and microarray technologies Husson, H; Manavalan, P; Akmaeva, VR; Russo, RJ; Cook, B; Richards, B; Barberio, D; Liu, DY; Cao, XH; Landes, GM; Wang, CJ; Roberts, BL; Klinger, KW; Grubman, SA; Jefferson, DM; Ibraghimov-Beskrovnaya, O 分享 收藏