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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes Verberkmoes, Sanne; Mazza, Gina L.; Edmondson, Andrew C.; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C. H.; Mousa, Jehan; Larson, Austin; Shah, Rameen; Mcdonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva Share Save
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O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder Matheny-Rabun, Courtney; Mokashi, Sneha S.; Radenkovic, Silvia; Wiggins, Kali; Dukes-Rimsky, Lynn; Angel, Peggi; Ghesquiere, Bart; Kozicz, Tamas; Steet, Richard; Morava, Eva; Flanagan-Steet, Heather Share Save
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts Garapati, Kishore; Ranatunga, Wasantha; Joshi, Neha; Budhraja, Rohit; Sabu, Saniha; Kantautas, Kristin A.; Preston, Graeme; Perlstein, Ethan O.; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh Share Save
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A complement C4-derived glycopeptide is a biomarker for PMM2-CDG Garapati, Kishore; Budhraja, Rohit; Saraswat, Mayank; Kim, Jinyong; Joshi, Neha; Sachdeva, Gunveen S.; Jain, Anu; Ligezka, Anna N.; Radenkovic, Silvia; Ramarajan, Madan Gopal; Udainiya, Savita; Raymond, Kimiyo; He, Miao; Lam, Christina; Larson, Austin; Edmondson, Andrew C.; Sarafoglou, Kyriakie; Larson, Nicholas B.; Freeze, Hudson H.; Schultz, Matthew J.; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh Share Save
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Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models Radenkovic, Silvia; Budhraja, Rohit; Klein-Gunnewiek, Teun; King, Alexia Tyler; Bhatia, Tarun N.; Ligezka, Anna N.; Driesen, Karen; Shah, Rameen; Ghesquiere, Bart; Pandey, Akhilesh; Kasri, Nael Nadif; Sloan, Steven A.; Morava, Eva; Kozicz, Tamas Share Save
Tracer metabolomics reveals the role of aldose reductase in glycosylation Radenkovic, Silvia; Ligezka, Anna N.; Mokashi, Sneha S.; Driesen, Karen; Dukes-Rimsky, Lynn; Preston, Graeme; Owuocha, Luckio F.; Sabbagh, Leila; Mousa, Jehan; Lam, Christina; Edmondson, Andrew; Larson, Austin; Schultz, Matthew; Vermeersch, Pieter; Cassiman, David; Witters, Peter; Beamer, Lesa J.; Kozicz, Tamas; Flanagan-Steet, Heather; Ghesquiere, Bart; Morava, Eva Share Save
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The Association of the Oral Microbiota with the Effects of Acid Stress Induced by an Increase of Brain Lactate in Schizophrenia Patients Krzysciak, Wirginia; Karcz, Paulina; Bystrowska, Beata; Szwajca, Marta; Bryll, Amira; Smierciak, Natalia; Ligezka, Anna; Turek, Aleksander; Kozicz, Tamas; Skalniak, Anna E.; Jagielski, Pawel; Popiela, Tadeusz J.; Pilecki, Maciej Share Save
Antidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania Gardea-Resendez, Manuel; Coombes, Brandon J.; Veldic, Marin; Tye, Susannah J.; Romo-Nava, Francisco; Ozerdem, Aysegul; Prieto, Miguel L.; Cuellar-Barboza, Alfredo; Nunez, Nicolas A.; Singh, Balwinder; Pendegraft, Richard S.; Miola, Alessandro; McElroy, Susan L.; Biernacka, Joanna M.; Morava, Eva; Kozicz, Tamas; Frye, Mark A. Share Save
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TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability Radenkovic, Silvia; Martinelli, Diego; Zhang, Yuebo; Preston, Graeme J.; Maiorana, Arianna; Terracciano, Alessandra; Dentici, Maria Lisa; Pisaneschi, Elisa; Novelli, Antonio; Ranatunga, Wasantha; Ligezka, Anna N.; Ghesquiere, Bart; Deyle, David R.; Kozicz, Tamas; Pinto e Vairo, Filippo; Witters, Peter; Morava, Eva Share Save
The Assessment of Endovascular Therapies in Ischemic Stroke: Management, Problems and Future Approaches Popiela, Tadeusz J.; Krzysciak, Wirginia; Pilato, Fabio; Ligezka, Anna; Bystrowska, Beata; Bukowska-Strakova, Karolina; Brzegowy, Pawel; Muthusamy, Karthik; Kozicz, Tamas Share Save
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications Ligezka, Anna N.; Radenkovic, Silvia; Saraswat, Mayank; Garapati, Kishore; Ranatunga, Wasantha; Krzysciak, Wirginia; Yanaihara, Hitoshi; Preston, Graeme; Brucker, William; McGovern, Renee M.; Reid, Joel M.; Cassiman, David; Muthusamy, Karthik; Johnsen, Christin; Mercimek-Andrews, Saadet; Larson, Austin; Lam, Christina; Edmondson, Andrew C.; Ghesquiere, Bart; Witters, Peter; Raymond, Kimiyo; Oglesbee, Devin; Pandey, Akhilesh; Perlstein, Ethan O.; Kozicz, Tamas; Morava, Eva Share Save
Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro Mossink, Britt; Verboven, Anouk H. A.; van Hugte, Eline J. H.; Gunnewiek, Teun M. Klein; Parodi, Giulia; Linda, Katrin; Schoenmaker, Chantal; Kleefstra, Tjitske; Kozicz, Tamas; van Bokhoven, Hans; Schubert, Dirk; Kasri, Nael Nadif; Frega, Monica Share Save
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