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Published in PloS one (09.07.2021)
Published in PloS one (09.07.2021)
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CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
Passini, Marco A, Bu, Jie, Roskelley, Eric M, Richards, Amy M, Sardi, S Pablo, O'Riordan, Catherine R, Klinger, Katherine W, Shihabuddin, Lamya S, Cheng, Seng H
Published in The Journal of clinical investigation (01.04.2010)
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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
Published in Journal of neuromuscular diseases (01.01.2020)
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Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice
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Published in Human molecular genetics (29.08.2020)
Published in Human molecular genetics (29.08.2020)
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Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine
Ledbetter, Steven R, Ibraghimov-Beskrovnaya, Oxana, Smith, Laurie A, Klinger, Katherine W, Bukanov, Nikolay O
Published in Nature (14.12.2006)
Published in Nature (14.12.2006)
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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, Nguyen, Tri-Hung, 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
Published in eLife (16.08.2022)
Published in eLife (16.08.2022)
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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
Published in eLife (30.05.2023)
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Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease
Kleytman, Nathaniel, Ruan, Jiapeng, Ruan, Audrey, Zhang, Bailin, Murugesan, Vagishwari, Lin, Haiqun, Guo, Lilu, Klinger, Katherine, Mistry, Pramod K.
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
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Genetic analyses of inflammatory polyneuropathy and chronic inflammatory demyelinating polyradiculoneuropathy identified candidate genes
Du, Zhaohui, Lessard, Samuel, Iyyanki, Tejaswi, Chao, Michael, Hammond, Timothy, Ofengeim, Dimitry, Klinger, Katherine, de Rinaldis, Emanuele, Shameer, Khader, Chatelain, Clément
Published in HGG advances (18.07.2024)
Published in HGG advances (18.07.2024)
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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Published in Genetics in medicine (01.09.2004)
Published in Genetics in medicine (01.09.2004)
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Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository
Lessard, Samuel, He, Chunla, Rajpal, Deepak K., Klinger, Katherine, Loh, Christine, Harris, Tim, Dumont, Jennifer
Published in Frontiers in medicine (23.06.2022)
Published in Frontiers in medicine (23.06.2022)
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Alterations in vascular gene expression in invasive breast carcinoma
PARKER, Belinda S, ARGANI, Pedram, NACHT, Mariana, TEICHER, Beverly A, KLINGER, Katherine W, SUKUMAR, Saraswati, MADDEN, Stephen L, COOK, Brian P, LIANGFENG, Han, CHARTRAND, Scott D, MINDY ZHANG, SAHA, Saurabh, BARDELLI, Alberto, JIANG, Yide, MARTIN, Thia B. St
Published in Cancer research (Chicago, Ill.) (01.11.2004)
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Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease
NATOLI, Thomas A, HUSSON, Hervé, IBRAGHIMOV-BESKROVNAYA, Oxana, ROGERS, Kelly A, SMITH, Laurie A, BING WANG, BUDMAN, Yeva, BUKANOV, Nikolay O, LEDBETTER, Steven R, KLINGER, Katherine W, LEONARD, John P
Published in Human molecular genetics (01.08.2012)
Published in Human molecular genetics (01.08.2012)
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Netrin-4 regulates angiogenic responses and tumor cell growth
Nacht, Mariana, St. Martin, Thia B., Byrne, Ann, Klinger, Katherine W., Teicher, Beverly A., Madden, Stephen L., Jiang, Yide
Published in Experimental cell research (10.03.2009)
Published in Experimental cell research (10.03.2009)
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Knockdown of human deubiquitinase PSMD14 induces cell cycle arrest and senescence
Byrne, Ann, McLaren, Rajashree P., 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
Published in Experimental cell research (15.01.2010)
Published in Experimental cell research (15.01.2010)
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Vascular Gene Expression in Nonneoplastic and Malignant Brain
Madden, Stephen L., Cook, Brian P., Nacht, Mariana, Weber, William D., Callahan, Michelle R., Jiang, Yide, Dufault, Michael R., Zhang, Xiaoming, Zhang, Wen, Walter-Yohrling, Jennifer, Rouleau, Cecile, Akmaev, Viatcheslav R., Wang, Clarence J., Cao, Xiaohong, St. Martin, Thia B., Roberts, Bruce L., Teicher, Beverly A., Klinger, Katherine W., Stan, Radu-Virgil, Lucey, Brenden, Carson-Walter, Eleanor B., Laterra, John, Walter, Kevin A.
Published in The American journal of pathology (01.08.2004)
Published in The American journal of pathology (01.08.2004)
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The chemosensitizing activity of inhibitors of glucosylceramide synthase is mediated primarily through modulation of P-gp function
CHAI, Lilly, MCLAREN, Rajashree P, TEICHER, Beverly A, CARTER, Kara, CHENG, Seng H, LEONARD, John P, YIBIN XIANG, VASCONCELLES, Michael, GOLDBERG, Mark A, COPELAND, Diane P, KLINGER, Katherine W, LILLIE, James, BYRNE, Ann, MADDEN, Stephen L, JIANG, Yide A, CHUANG, Wei-Lien, YINYIN HUANG, DUFAULT, Michael R, PACHECO, Joshua, MADHIWALLA, Shruti, XIAOKUI ZHANG, ZHANG, Mindy
Published in International journal of oncology (01.03.2011)
Published in International journal of oncology (01.03.2011)
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