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Submissions from 2017

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Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle., Aurelia Defour, Sushma Medikayala, Jack H Van der Meulen, Marshall W Hogarth, Nicholas Holdreith, Apostolos Malatras, William Duddy, Jessica Boehler, Kanneboyina Nagaraju, and Jyoti K Jaiswal

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Effects of Systemic Multiexon Skipping with Peptide-conjugated Morpholinos in the Heart of a Dog Model of Duchenne Muscular Dystrophy., Yusuke Echigoya, Akinori Nakamura, Tetsuya Nagata, Nobuyuki Urasawa, Kenji Rowel Q Lim, Nhu Trieu, Dharminder Panesar, Mutsuki Kuraoka, Hong M Moulton, Takashi Saito, Yoshitsugu Aoki, Patrick Iversen, Peter Sazani, Ryszard Kole, Rika Maruyama, Terry Partridge, Shin'ichi Takeda, and Toshifumi Yokota

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Circulating adipocyte-derived exosomal MicroRNAs associated with decreased insulin resistance after gastric bypass., Monica J. Hubal, Evan P. Nadler, Sarah C Ferrante, Matthew D Barberio, Jung-Hyuk Suh, Justin Wang, G Lynis Dohm, Walter J Pories, Michelle Mietus-Snyder, and Robert J. Freishtat

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Duchenne Regulatory Science Consortium Meeting on Disease Progression Modeling for Duchenne Muscular Dystrophy., Jane Larkindale, Richard Abresch, Enrique Aviles, Abby Bronson, Janice Chin, Pat Furlong, Heather Gordish-Dressman, and Members Of The Duchenne Regulatory Science Consortium Imaging-Dmd Consortium And The Cinrg Investigators

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Genetic characterization of physical activity behaviours in university students enrolled in kinesiology degree programs., Gina M Many, Zachary Kendrick, Chelsea L Deschamps, Courtney Sprouse, Laura L Tosi, Joseph M Devaney, Heather Gordish-Dressman, Whitney Barfield, Eric P Hoffman, Joseph A Houmard, Linda S Pescatello, Hans J Vogel, Jane Shearer, and Dustin S Hittel

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Superresolution Imaging Identifies That Conventional Trafficking Pathways Are Not Essential for Endoplasmic Reticulum to Outer Mitochondrial Membrane Protein Transport., Kyle Salka, Shivaprasad Bhuvanendran, Kassandra Wilson, Petros Bozidis, Mansi Mehta, Kristin Rainey, Hiromi Sesaki, George H Patterson, Jyoti K. Jaiswal, and Anamaris M. Colberg-Poley

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Mitochondria mediate cell membrane repair and contribute to Duchenne muscular dystrophy., Maria C Vila, Sree Rayavarapu, Marshall W Hogarth, Jack H Van der Meulen, Adam Horn, Aurelia Defour, Shin'ichi Takeda, Kristy J. Brown, Yetrib Hathout, Kanneboyina Nagaraju, and Jyoti K. Jaiswal

Submissions from 2016

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Glucocorticoid Receptor (NR3C1) Variants Associate with the Muscle Strength and Size Response to Resistance Training., Garrett I Ash, Matthew A Kostek, Harold Lee, Theodore J Angelopoulos, Priscilla M Clarkson, Paul M Gordon, Niall M Moyna, Paul S Visich, Robert F Zoeller, Thomas B Price, Joseph M. Devaney, Heather Gordish-Dressman, Paul D Thompson, Eric P. Hoffman, and Linda S Pescatello

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PDPR Gene Expression Correlates with Exercise-Training Insulin Sensitivity Changes., Matthew D Barberio, Kim M Huffman, Mamta Giri, Eric P. Hoffman, William E Kraus, and Monica J Hubal

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Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes., Matthew D Barberio, Kim M Huffman, Mamta Giri, Eric P. Hoffman, William E Kraus, and Monica J. Hubal

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DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study., Luca Bello, Lauren P Morgenroth, Heather Gordish-Dressman, Eric P. Hoffman, Craig M McDonald, Avital Cnaan, and +21 collaborators

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome., Joanna Crawford, Neil I Bower, Benjamin M Hogan, Ryan J. Taft, Michael T Gabbett, Julie McGaughran, and Cas Simons

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Zika Virus Infection with Prolonged Maternal Viremia and Fetal Brain Abnormalities., Rita W. Driggers, Cheng-Ying Ho, Essi M. Korhonen, D. Ashley Hill, Preetha Iyengar, Roberta L. DeBiasi, Gilbert Vezina, and + 13 more

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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice., Hacer Durmuş, Özgecan Ayhan, Sebahattin Çırak, Feza Deymeer, Yeşim Parman, Andre Franke, Nane Eiber, Frederic Chevessier, Ursula Schlötzer-Schrehardt, Christoph S Clemen, Said Hashemolhosseini, Rolf Schröder, Georg Hemmrich-Stanisak, Aslıhan Tolun, and Piraye Serdaroğlu-Oflazer

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The use of proteomic analysis to study trafficking defects in axons., Xiaoqin Fu, Kristy J. Brown, Sree Rayavarapu, Kanneboyina Nagaraju, and Judy S. Liu

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A novel dissociative steroid VBP15 reduces MUC5AC gene expression in airway epithelial cells but lacks the GRE mediated transcriptional properties of dexamethasone., Lindsay M. Garvin, Yajun Chen, Jesse M. Damsker, and Mary C. Rose

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A novel dissociative steroid VBP15 reduces MUC5AC gene expression in airway epithelial cells but lacks the GRE mediated transcriptional properties of dexamethasone., Lindsay M. Garvin, Yajun Chen, Jesse M. Damsker, and Mary C. Rose

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Effect of arginine on oligomerization and stability of N-acetylglutamate synthase., N Haskins, A Mumo, P H Brown, Mendel Tuchman, Hiroki Morizono, and L Caldovic

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Identification of Pathway-Specific Serum Biomarkers of Response to Glucocorticoid and Infliximab Treatment in Children with Inflammatory Bowel Disease, Christopher R. Heier, Alyson A. Fiorillo, Ellen Chaisson, Heather A. Gordish-Dressman, Yetrib Hathout, Jesse M. Damsker, Eric P. Hoffman, and Laurie S. Conklin

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Metataxonomic and Metagenomic Approaches vs. Culture-Based Techniques for Clinical Pathology., Sarah K. Hilton, Eduardo Castro-Nallar, Marcos Pérez-Losada, Ian Toma, Timothy A. McCaffrey, Eric P. Hoffman, Marc O. Siegel, Gary L. Simon, W. Evan Johnson, and Keith Crandall

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The financial impact of clinic no-show rates in an academic pediatric otolaryngology practice., Zhen Huang, Mariam Ashraf, Heather Gordish-Dressman, and Pamela Mudd

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Circulating adipocyte-derived exosomal MicroRNAs associated with decreased insulin resistance after gastric bypass., Monica J. Hubal, Evan P. Nadler, Sarah C Ferrante, Matthew D Barberio, Jung-Hyuk Suh, Justin Wang, G Lynis Dohm, Walter J Pories, Michelle Mietus-Snyder, and Robert J. Freishtat

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Effect of the IL-1 Receptor Antagonist Kineret® on Disease Phenotype in mdx Mice., Margaret E. Benny Klimek, Arpana Sali, Sree Rayavarapu, Jack Van der Meulen, and Kanneboyina Nagaraju

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Effects on muscle tissue remodeling and lipid metabolism in muscle tissue from adult patients with polymyositis or dermatomyositis treated with immunosuppressive agents., Ingela Loell, Joan Raouf, Yi-Wen Chen, Rongye Shi, Inger Nennesmo, Helene Alexanderson, Maryam Dastmalchi, Kanneboyina Nagaraju, Marina Korotkova, and Ingrid E Lundberg

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Sex differences in the association between neck circumference and asthma., Lisa Maltz, Ethan L Matz, Heather Gordish-Dressman, Dinesh K. Pillai, Stephen J. Teach, Carlos A Camargo, Monica J. Hubal, Simran Behniwal, Guy D Prosper, Nicole Certner, Raman Marwah, Douglas M Mansell, Fisayo Nwachukwu, Risa Lazaroff, Yodit Tsegaye, and Robert J. Freishtat

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OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages., Gina M Many, Yasuyuki Yokosaki, Kitipong Uaesoontrachoon, Peter P Nghiem, Luca Bello, Sherry Dadgar, Ying Yin, Jesse M Damsker, Heather B Cohen, Joe N Kornegay, Marcas M Bamman, David M Mosser, Kanneboyina Nagaraju, and Eric P Hoffman

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SCN8A encephalopathy: Research progress and prospects., Miriam H Meisler, Guy Helman, Michael F Hammer, Brandy E Fureman, Adeline Vanderver, and + 16 more

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Endurance Exercise Improves Molecular Pathways of Aerobic Metabolism in Patients With Myositis, Li Munters, Elena Ossipova, Joan Raouf, Maryam Dastmalchi, Eva Lindroos, Kanneboyina Nagaraju, and +7 additional authors

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Muscle myeloid type I interferon gene expression may predict therapeutic responses to rituximab in myositis patients., Kanneboyina Nagaraju, Svetlana Ghimbovschi, Sree Rayavarapu, Aditi Phadke, Lisa G. Rider, Eric P. Hoffman, and Frederick Miller

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Histological and molecular analysis of a progressive diffuse intrinsic pontine glioma and synchronous metastatic lesions: a case report., Javad Nazarian, Gary E Mason, Cheng Ying Ho, Eshini Panditharatna, Madhuri Kambhampati, Louis Gilbert Vezina, Roger J. Packer, and Eugene I Hwang

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Global intron retention mediated gene regulation during CD4+ T cell activation., Ting Ni, Wenjing Yang, Miao Han, Yubo Zhang, Ting Shen, Hongbo Nie, Zhihui Zhou, Yalei Dai, Yanqin Yang, Poching Liu, Kairong Cui, Zhouhao Zeng, Yi Tian, Bin Zhou, Gang Wei, Keji Zhao, Weiqun Peng, and Jun Zhu

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Diagnosis and etiology of congenital muscular dystrophy: We are halfway there., Gina L O'Grady, Monkol Lek, Shireen R Lamande, Leigh Waddell, Emily C Oates, Eric Hoffman, and +12 additional authors

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Laminopathies disrupt epigenomic developmental programs and cell fate., Jelena Perovanovic, Stefania Dell'Orso, Viola F. Gnochi, Jyoti K. Jaiswal, Vittorio Sartorelli, Corinne Vigouroux, Kamel Mamchaoui, Vincent Mouly, Gisèle Bonne, and Eric P. Hoffman

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A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects., Jaya Punetha, Akanchha Kesari, Eric P. Hoffman, Monika Gos, Anna Kamińska, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz, Ying Hu, Yaqun Zou, Carsten G Bönnemann, and Maria Jędrzejowska

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Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases., Jaya Punetha, Akanchha Kesari, Prech Uapinyoying, Mamta Giri, Nigel F Clarke, Eric P. Hoffman, and +15 additional authors

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Molecular Imaging of Biological Samples on Nanophotonic Laser Desorption Ionization Platforms., Sylwia A Stopka, Charles Rong, Andrew R Korte, Sridevi Yadavilli, Javad Nazarian, Trust T Razunguzwa, Nicholas J Morris, and Akos Vertes

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Vamorolone, a dissociative steroidal compound, reduces pro-inflammatory cytokine expression in glioma cells and increases activity and survival in a murine model of cortical tumor., Elizabeth Wells, Madhuri Kambhampati, Jesse M Damsker, Heather Gordish-Dressman, Sridevi Yadavilli, Oren J Becher, Jamila Gittens, Mojca Stampar, Roger J. Packer, and Javad Nazarian

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A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice., Yang Yang, Lili Wang, Peter Bell, Deirdre McMenamin, Zhenning He, John White, Hongwei Yu, Chenyu Xu, Hiroki Morizono, Kiran Musunuru, Mark L. Batshaw, and James M Wilson

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Salivary latent trait cortisol (LTC): Relation to lipids, blood pressure, and body composition in middle childhood., Ellen W. Yeung, Rebecca Place, Heather Gordish-Dressman, Paul Visich, Eric P. Hoffman, Sheila O. Walker, and Douglas A. Granger

Submissions from 2015

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Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies., Inka Albrecht, Cecilia Wick, Åsa Hallgren, Anna Tjärnlund, Kanneboyina Nagaraju, Felipe Andrade, and +20 additional authors

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Transcriptional Pathways Associated with Skeletal Muscle Changes after Spinal Cord Injury and Treadmill Locomotor Training., Celine Baligand, Yi-Wen Chen, Fan Ye, Sachchida Nand Pandey, San-Huei Lai, Min Liu, and Krista Vandenborne

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Transcriptional Pathways Associated with Skeletal Muscle Changes after Spinal Cord Injury and Treadmill Locomotor Training., Celine Baligand, Yi-Wen Chen, Fan Ye, Sachchida Nand Pandey, San-Huei Lai, Min Liu, and Krista Vandenborne

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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy., Andrea Barp, Luca Bello, Luisa Politano, Paola Melacini, Chiara Calore, Eric P. Hoffman, and +16 additional authors

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Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study., Luca Bello, Heather Gordish-Dressman, Lauren P. Morgenroth, Erik K. Henricson, Tina Duong, Eric P. Hoffman, Avital Cnaan, and Craig M. McDonald

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Genetic modifiers of ambulation in the CINRG duchenne natural history study., Luca Bello, Akanchha Kesari, Heather A. Gordish-Dressman, Avital Cnaan, Lauren P Morgenroth, Jaya Punetha, Tina Duong, Erik Henricson, Elena Pegoraro, Craig M. McDonald, and Eric P. Hoffman

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An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss, Miles C. Benton, Alice Johnstone, David Eccles, Brennan Harmon, Mark T. Hayes, Rod A. Lea, Lyn Griffiths, Eric P. Hoffman, Richard S. Stubbs, and Donia Macartney-Coxson

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Age-Associated Methylation Suppresses SPRY1, Leading to a Failure of Re-quiescence and Loss of the Reserve Stem Cell Pool in Elderly Muscle., Anne Bigot, William J Duddy, Zamalou G Ouandaogo, Elisa Negroni, Virginie Mariot, Svetlana Ghimbovschi, Brennan Harmon, Aurore Wielgosik, Camille Loiseau, Joseph Devaney, Julie Dumonceaux, Gillian Butler-Browne, Vincent Mouly, and Stéphanie Duguez

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Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing., Michael B Clark, Tim R Mercer, Giovanni Bussotti, Tommaso Leonardi, Katelin R Haynes, Joanna Crawford, Marion E Brunck, Kim-Anh Lê Cao, Gethin P Thomas, Wendy Y Chen, Ryan J Taft, Lars K Nielsen, Anton J Enright, John S Mattick, and Marcel E Dinger

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Upregulated IL-1β in dysferlin-deficient muscle attenuates regeneration by blunting the response to pro-inflammatory macrophages., Tatiana V. Cohen, Gina M. Many, Bryan D. Fleming, Viola F. Gnocchi, Svetlana Ghimbovschi, David M. Mosser, Eric P. Hoffman, and Terence A. Partridge

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Effect of genetic background on the dystrophic phenotype in mdx mice., William D Coley, Laurent Bogdanik, Maria Candida Vila, Qing Yu, Terence A Partridge, Kanneboyina Nagaraju, and +12 additional authors

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The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults., Chelsea L Deschamps, Kimberly E Connors, Matthias S Klein, Virginia L Johnsen, Jane Shearer, Hans J Vogel, Joseph M. Devaney, Heather Gordish-Dressman, Gina M Many, Whitney Barfield, Eric P. Hoffman, William E Kraus, and Dustin S Hittel

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Genome-wide differentially methylated genes in prostate cancer tissues from African-American and Caucasian men., Joseph M. Devaney, S. Wang, P. Furbert-Harris, V. Apprey, M. Ittmann, Bi-Dar Wang, J. Olender, Norman H. Lee, and B. Kwabi-Addo

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Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice., Blythe C. Dillingham, Margaret E Benny Klimek, Ramkishore Gernapudi, Sree Rayavarapu, Eduard Gallardo, Jack H Van der Meulen, Sarah Jordan, Beryl Ampong, Heather Gordish-Dressman, Christopher F. Spurney, and Kanneboyina Nagaraju

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Muscular dystrophy in the mdx mouse is a severe myopathy compounded by hypotrophy, hypertrophy and hyperplasia., William Duddy, Stephanie Duguez, Helen Johnston, Tatiana V. Cohen, Aditi Phadke, Heather Gordish-Dressman, Kanneboyina Nagaraju, Viola Gnocchi, SiewHui Low, and Terence Partridge

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Long-term efficacy of systemic multiexon skipping targeting dystrophin exons 45-55 with a cocktail of vivo-morpholinos in mdx52 mice., Yusuke Echigoya, Yoshitsugu Aoki, Bailey Miskew, Dharminder Panesar, Aleksander Touznik, Tetsuya Nagata, Jun Tanihata, Akinori Nakamura, Kanneboyina Nagaraju, and Toshifumi Yokota

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Adipocyte-derived exosomal miRNAs: a novel mechanism for obesity-related disease., Sarah C. Ferrante, Evan P. Nadler, Dinesh K. Pillai, Monica J. Hubal, Zuyi Wang, Justin M. Wang, Heather A. Gordish-Dressman, Emily S. Koeck, Samantha Sevilla, Andrew A. Wiles, and Robert J. Freishtat

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TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy., Alyson A. Fiorillo, Christopher R. Heier, James S. Novak, Christopher B. Tully, Kristy J. Brown, Kitipong Uaesoontrachoon, Maria C. Vila, Peter P. Ngheim, Luca Bello, Joe N. Kornegay, Corrado Angelini, Terence A. Partridge, Kanneboyina Nagaraju, and Eric P. Hoffman

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Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?, Ashanti L Franklin, Mariam Said, Clint D Cappiello, Heather Gordish-Dressman, Zohreh Tatari-Calderone, Stanislav Vukmanovic, Khodayar Rais-Bahrami, Naomi L C Luban, Joseph M Devaney, and Anthony D Sandler

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Transcriptional profiling and biological pathway analysis of human equivalence PCB exposure in vitro: Indicator of disease and disorder development in humans., Somiranjan Ghosh, Partha S. Mitra, Christopher A. Loffredo, Tomas Trnovec, Lubica Murinova, Eva Sovcikova, Svetlana Ghimbovschi, Shizhu Zang, Eric P. Hoffman, and Sisir K. Dutta

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Resting-state striato-frontal functional connectivity is sensitive to DAT1 genotype and predicts executive function., Evan M. Gordon, Joseph M. Devaney, Stephanie Bean, and Chandan J. Vaidya

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Functionally defined therapeutic targets in diffuse intrinsic pontine glioma., Catherine S. Grasso, Yujie Tang, Nathalene Truffaux, Noah E. Berlow, Lining Liu, Javad Nazarian, and +40 additional authors

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Tyrosine 705 Phosphorylation of STAT3 Is Associated with Phenotype Severity in TGFβ1 Transgenic Mice, Eleonora Guadagnin, Jigna Narola, Carsten G. Bonnemann, and Yi-Wen Chen

Proteomic methods for biomarker discovery and validation. Are we there yet?, Yetrib Hathout

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Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy., Yetrib Hathout, Edward Brody, Paula R. Clemens, Heather Gordish-Dressman, Eric P. Hoffman, and +18 additional authors

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Magnetic resonance imaging [MRI] spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy., Guy Helman, Ljubica Caldovic, Matthew T Whitehead, Cas Simons, Ryan J Taft, Adeline Vanderver, and + 7 more

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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development., Emma Heslop, Cristina Csimma, Volker Straub, John McCall, Kanneboyina Nagaraju, Kathryn R. Wagner, Didier Caizergues, Rudolf Korinthenberg, Kevin M. Flanigan, Petra Kaufmann, Elizabeth McNeil, Jerry Mendell, Sharon Hesterlee, Dominic J. Wells, and Kate Bushby

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A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation., Cheng-Ying Ho, Bret C Mobley, Heather Gordish-Dressman, Christopher J VandenBussche, Gary E Mason, Roger J. Packer, and +10 additional authors

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Extracellular matrix remodeling and its contribution to protective adaptation following lengthening contractions in human muscle., Robert D. Hyldahl, Brad Nelson, Ling Xin, Tyson Welling, Logan Groscost, Monica J Hubal, Stuart Chipkin, Priscilla M Clarkson, and Allen C Parcell

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S100 and annexin proteins identify cell membrane damage as the Achilles heel of metastatic cancer cells, Jyoti K. Jaiswal and Jesper Nylandsted

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Annexin A1 Deficiency does not Affect Myofiber Repair but Delays Regeneration of Injured Muscles., Evgenia Leikina, Aurelia Defour, Kamran Melikov, Jack H Van der Meulen, Kanneboyina Nagaraju, Shivaprasad Bhuvanendran, Claudia Gebert, Karl Pfeifer, Leonid V. Chernomordik, and Jyoti K. Jaiswal

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Understanding the origin of non-immune cell-mediated weakness in the idiopathic inflammatory myopathies - potential role of ER stress pathways., Adam P Lightfoot, Kanneboyina Nagaraju, Anne McArdle, and Robert G Cooper

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Lipid exposure elicits differential responses in gene expression and DNA methylation in primary human skeletal muscle cells from severely obese women., Jill M Maples, Jeffrey J Brault, Brian M Shewchuk, Carol A Witczak, Kai Zou, Naomi Rowland, Monica J. Hubal, Todd M Weber, and Joseph A Houmard

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Differential epigenetic and transcriptional response of the skeletal muscle carnitine palmitoyltransferase 1B (CPT1B) gene to lipid exposure with obesity., Jill M. Maples, Jeffrey J. Brault, Carol A. Witczak, Sanghee Park, Monica J. Hubal, and +3 additional authors

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Contemporary cardiac issues in Duchenne muscular dystrophy., Elizabeth M. McNally, Jonathan R. Kaltman, D. Woodrow Benson, Charles E. Canter, Linda H. Cripe, Eric P. Hoffman, and +14 additional authors

Genome-wide discovery of human splicing branchpoints, Tim R. Mercer, Michael B. Clark, Stacey B. Andersen, Marion E. Brunck, Wilfried Haerty, Joanna Crawford, Ryan J. Taft, Lars K. Nielsen, Marcel E. Dinger, and John S. Mattick

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Targeted single molecule sequencing methodology for ovarian hyperstimulation syndrome., Funda Orkunoglu-Suer, Arthur F. Harralson, David Frankfurter, Paul Gindoff, and Travis J. O'Brien

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Culture Conditions Affect Expression of DUX4 in FSHD Myoblasts, Sachchida Nand Pandey, Hunain Khawaja, and Yi-Wen Chen

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"Watching time tick by…": Decision making for Duchenne muscular dystrophy trials., Holly L Peay, Hadar Scharff, Aad Tibben, Benjamin Wilfond, Janice Bowie, Kanneboyina Nagaraju, and +4 additional authors

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Quantitative Proteomics Reveals an Altered Cystic Fibrosis In Vitro Bronchial Epithelial Secretome., Jennifer R. Peters-Hall, Kristy J. Brown, Dinesh K. Pillai, Amarel Tomney, Lindsay M. Garvin, Xiaofang Wu, and Mary C. Rose

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Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance., Jaya Punetha, Soledad Monges, Maria Emilia Franchi, Eric P. Hoffman, Sebahattin Cirak, and Carolina Tesi-Rocha

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Adolescent form of sporadic lymphangioleiomyomatosis (S-LAM)., S M Restrepo-Gualteros, C E Rodriguez-Martinez, L E Jaramillo-Barberi, A F Lopez-Cadena, and G Nino

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Immune-mediated pathology in Duchenne muscular dystrophy., Amy S. Rosenberg, Montserrat Puig, Kanneboyina Nagaraju, Eric P. Hoffman, S. Armando Villalta, V. Ashutosh Rao, Lalage M. Wakefield, and Janet Woodcock

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From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases., Dashuang Shi, Norma M. Allewell, and Mendel Tuchman

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The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms, Dashuang Shi, Norma M. Allewell, and Mendel Tuchman

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Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults., M Tarnopolsky, Eric P. Hoffman, M Giri, J Shoffner, and L Brady

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Disrupting NOTCH Slows Diffuse Intrinsic Pontine Glioma Growth, Enhances Radiation Sensitivity, and Shows Combinatorial Efficacy With Bromodomain Inhibition., Isabella C Taylor, Marianne Hütt-Cabezas, William D Brandt, Madhuri Kambhampati, Javad Nazarian, Howard T Chang, Katherine E Warren, Charles G Eberhart, and Eric H Raabe

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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants., Janneke C van den Bergen, Monika Hiller, Stefan Böhringer, Linda Vijfhuizen, Hendrika B Ginjaar, Sebahattin Cirak, and +16 additional authors

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Elusive sources of variability of dystrophin rescue by exon skipping., Maria Candida Vila, Margaret Benny Klimek, James S Novak, Sree Rayavarapu, Kitipong Uaesoontrachoon, Jessica F Boehler, Heather Gordish-Dressman, Terence A Partridge, Kristy J. Brown, Yetrib Hathout, John van den Anker, Eric P. Hoffman, Kanneboyina Nagaraju, and +7 additional authors

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DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder., Nicole I. Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard Leventer, Amy Pizzino, Cas Simons, Truus E M Abbink, Ryan J Taft, Marjo S van der Knaap, and Adeline Vanderver

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The use of urinary and kidney SILAM proteomics to monitor kidney response to high dose morpholino oligonucleotides in the mdx mouse, Aiping Zhang, Kitipong Uaesoontrachoon, Conner Shaughnessy, Jharna R. Das, Sree Rayavarapu, Kristy J. Brown, Patricio E. Ray, Kanneboyina Nagaraju, John N. van den Anker, Eric P. Hoffman, and Yetrib Hathout

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Structures of the N-acetyltransferase domain of Xylella fastidiosaN-acetyl-L-glutamate synthase/kinase with and without a His tag bound to N-acetyl-L-glutamate., Gengxiang Zhao, Zhongmin Jin, Norma M. Allewell, Mendel Tuchman, and Dashuang Shi

Submissions from 2014

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Increased 5-hydroxymethylcytosine and decreased 5-methylcytosine are indicators of global epigenetic dysregulation in diffuse intrinsic pontine glioma, Sama Ahsan, Eric H. Raabe, Michael C. Haffner, Ajay Vaghasia, Katherine E. Warren, Martha Quezado, Leomar Y. Ballester, Javad Nazarian, Charles G. Eberhart, and Fausto J. Rodriguez

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Mitotic asynchrony induces transforming growth factor-β1 secretion from airway epithelium, Sarah E. Alcala, Angela S. Benton, Alan M. Watson, Suraya Kureshi, Erica M.K. Reeves, Jesse M. Damsker, Zuyi Wang, Kanneboyina Nagaraju, Julia Anderson, Aaron M. Williams, Amber J.Y. Lee, Mary C. Rose, Eric P. Hoffman, and Robert J. Freishtat

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Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies, Brucu Ayoglu, Amina Chaouch, Hans Lochmuller, Luisa Politano, Enrico Bertini, Sebahattin Cirak, and +17 additional authors

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Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage., Whitney L. Barfield, Kitipong Uaesoontrachoon, Chung-Sheih Wu, Stephen Lin, Yue Chen, Paul C. Wang, Yasmine Kanaan, Vernon Bond, and Eric P. Hoffman

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Pediatric early warning score at time of emergency department disposition is associated with level of care, Kristen Breslin, Julie Marx, Heather J. Hoffman, Ryan McBeth, and Padmaja Pavuluri

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations, Pawel Buczkowicz, Christine Hoeman, Patricia Rakopoulos, Sanja Pajovic, Louis Letourneau, Javad Nazarian, and +46 additional authors

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Conditional independence mapping of DIGE data reveals PDIA3 protein species as key nodes associated with muscle aerobic capacity, Jatin Burniston, Jenna Kenyani, Donna Gray, Eleonora Guadagnin, Ian H. Jarman, James N. Cobley, Daniel J. Cuthbertson, Yi-Wen Chen, Jonathan M. Wastling, Paulo J. Lisboa, Lauren G. Koch, and Steven L. Britton

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Expression pattern and biochemical properties of zebrafish n-acetylglutamate synthase, Ljubica Caldovic, Nantaporn Haskins, Amy Mumo, Himani Majumdar, Mary Pinter, Mendel Tuchman, and Alison Krufka

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Human pontine glioma cells can induce murine tumors, Viola Caretti, Charlotte P. Sewing, Tonny Lagerweij, Pepijn Schellen, Marianna Bugiani, Javad Nazarian, and +12 additional authors