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Submissions from 2014

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The protein phosphatase 2A B56γ regulatory subunit is required for heart development, Prajakta Varadkar, Daryl Despres, Matthew Kraman, Julie Lozier, Aditi Phadke, Kanneboyina Nagaraju, and Brent McCright

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DNA methylation profile associated with rapid decline in kidney function: Findings from the CRIC Study, Maria R. Wing, Joseph M. Devaney, Marshall M. Joffe, Dawei Xie, Harold I. Feldman, Heather A. Gordish-Dressman, Dominic S. Raj, and +11 additional authors

Submissions from 2013

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Effects of corticosteroids in the development of limb muscle weakness in a porcine intensive care unit model., Sudhakar Aare, Peter Radell, Lars I. Eriksson, Hazem Akkad, Yi-Wen Chen, Eric P. Hoffman, and Lars Larsson

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An exploration of heat tolerance in mice utilizing mRNA and microRNA expression analysis, Islam Aminul, Patricia A. Deuster, Joseph M. Devaney, Svetlana Ghimbovschi, and Yifan Chen

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Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-α2 chain-null congenital muscular dystrophy mice., Yoshitsugu Aoki, Tetsuya Nagata, Toshifumi Yokota, Akinori Nakamura, Matthew J A Wood, Terence Partridge, and Shin'ichi Takeda

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Morphologic characteristics and immunohistochemical profile of diffuse intrinsic pontine gliomas., Leomar Y Ballester, Zengfeng Wang, Shaefali Shandilya, Markku Miettinen, Peter C Burger, Charles G Eberhart, Fausto J Rodriguez, Eric Raabe, Javad Nazarian, Katherine Warren, and Martha M Quezado

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Gene expression profiling of gastrocnemius of "minimuscle" mice., Jatin G. Burniston, Thomas H. Meek, Sachchida N. Pandey, Gina Broitman-Maduro, Morris F. Maduro, Anne M. Bronikowski, Theodore Garland Jr., and Yi-Wen Chen

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan., Keren J. Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Eric P. Hoffman, and +31 additional authors

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A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies, Nigel F. Clarke, Kimberly Amburgey, James Teener, Sandra Camelo-Piragua, Akanchha Kesari, Jaya Punetha, Leigh B. Waddell, Mark Davis, Nigel G. Laing, Nicole Monnier, Kathryn N. North, Eric P. Hoffman, and James J. Dowling

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Daily supplementation of D-ribose shows no therapeutic benefits in the MHC-I transgenic mouse model of inflammatory myositis, William Coley, Sree Rayavarapu, Jack H. Van der Meulen, Ayyappa S. Duba, and Kanneboyina Nagaraju

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Identification of novel DNA-methylated genes that correlate with human prostate cancer and high-grade prostatic intraepithelial neoplasia, Joseph M. Devaney, S. Wang, S. Funda, J. Long, D. J. Taghipour, R. Tbaishat, P. Furbert-Harris, M. Ittmann, and B. Kwabi-Addo

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Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion, Stephanie Duguez, William Duddy, Helen Johnston, Jeanne Laine, Marie Catherine Le Bihan, Kristy J. Brown, Anne Bigot, Yetrib Hathout, Gillian Butler-Browne, and Terence Partridge

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A Role for Ly108 in the Induction of Promyelocytic Zinc Finger Transcription Factor in Developing Thymocytes., Mala Dutta, Zachary J. Kraus, Julio Gomez-Rodriguez, Sun-Hee Hwang, Jennifer L. Cannons, Jun Cheng, Sang-Yun Lee, David L. Wiest, Edward K. Wakeland, and Pamela Schwartzberg

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Status of LEPR gene in PCB-exposed population: A quick look, Somiranjan Ghosh, Tomas Trnovec, Lubica Palkovicova, Eric P. Hoffman, Kareem Washington, and Sisir K. Dutta

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miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors, Naoe Harafuji, Peter Schneiderat, Maggie C. Walter, and Yi-Wen Chen

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VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects, Christopher R. Heier, Jesse M. Damsker, Qing Yu, Blythe C. Dillingham, Tony Huynh, Heather A. Gordish-Dressman, Jyoti K. Jaiswal, Eric P. Hoffman, Kanneboyina Nagaraju, and +15 additional authors

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Orphan drug development in muscular dystrophy: Update on two large clinical trials of dystrophin rescue therapies, Eric P. Hoffman and Edward M. Connor

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Alterations in osteopontin modify muscle size in females in both humans and mice., Eric P. Hoffman, Heather A. Gordish-Dressman, Virginia D. McLane, Joseph M. Devaney, Paul D. Thompson, Paul S. Visich, Paul M. Gordon, Linda S. Pescatello, Robert F. Zoeller, Niall M. Moyna, Theodore J. Angelopoulos, Elena Pegoraro, and Gregory A. Cox

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Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy., Eric P. Hoffman, Erica K.M. Reeves, Jesse M. Damsker, Kanneboyina Nagaraju, John M. McCall, Edward M. Connor, and Kate Bushby

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Pro-asthmatic cytokines regulate unliganded and ligand-dependent glucocorticoid receptor signaling in airway smooth muscle, Aihua Hu, Maureen B. Josephson, Barry L. Diener, Gustavo Nino, Shuyun Xu, Chinmay Paranjape, Jordan S. Orange, and Michael M. Grunstein

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Belling the cat - Tagging live cells with quantum dots, Jyoti K. Jaiswal and Sanford M. Simon

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Effect of the sort1 low-density lipoprotein cholesterol locus is sex-specific in a fit, Canadian young-adult population, Angela Karlos, Jane Shearer, Elizabeth Gnatiuk, Chiatogu Onyewu, GIna M. Many, Eric P. Hoffman, and Dustin S. Hittel

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Pathogenesis of myositis: Lessons learned from animal studies, Travis B. Kinder, Sree Rayavarapu, Kathryn White, and Kanneboyina Nagaraju

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Inpatient weight loss as a precursor to bariatric surgery for adolescents with extreme obesity: Optimizing bariatric surgery, Emily Koeck, Katherine P. Davenport, Leah C. Barefoot, Faisal G. Qureshi, Daniel Davidow, and Evan P. Nadler

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Apolipoprotein E polymorphisms and severity of cerebral palsy: A cross-sectional study in 255 children in Norway, Espen Lien, Guro L. Andersen, Yongde Bao, Heather A. Gordish-Dressman, Jon S. Skranes, Torstein Vik, and James A. Blackman

Aging influences the expression of early response genes following acute resistance exercise in trained skeletal muscle, Dongmei Liu, Maureen A. Sartor, Emidio E. Pistilli, Gustavo A. Nader, Paul S. Visich, Eric P. Hoffman, and Paul M. Gordon

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The cooperative international neuromuscular research group Duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used, Craig M. McDonald, Erik K. Henricson, R. Ted Abresch, Jay J. Han, Diana M. Escolar, Julaine M. Florence, Tina Duong, Adrienne Arrieta, Paula R. Clemens, Eric P. Hoffman, Avital Cnaan, and The CINRG Investigators

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Conditional expression of TGF-β1 in skeletal muscles causes endomysial fibrosis and myofibers atrophy, Jigna Narola, Sachchida Nand Pandey, Adam Glick, and Yi-Wen Chen

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Sparing of the dystrophin-deficient cranial sartorius muscle is associated with classical and novel hypertrophy pathways in GRMD dogs, Peter P. Nghiem, Eric P. Hoffman, Priya Mittal, Kristy J. Brown, Scott J. Schatzberg, Svetlana Ghimbovschi, Zuyi Wang, and Joe N. Kornegay

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Nuclear envelope laminopathies: Evidence for developmentally inappropriate chromatin-nuclear envelope interactions, Jelena Perovanovic, Jyoti K. Jaiswal, Nikola Markovic, and Eric P. Hoffman

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Highlights from the functional single nucleotide polymorphisms associated with human muscle size and strength or FAMuSS study, Linda S. Pescatello, Joseph M. Devaney, Monica J. Hubal, Paul D. Thompson, and Eric P. Hoffman

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Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar, Jaya Punetha and Eric P. Hoffman

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Effects of dantrolene therapy on disease phenotype in dystrophin deficient mdx mice, James L. Quinn, Tony Huynh, Kitipong Uaesoontrachoon, Kathleen Tatem, Aditi Phadke, Jack H. Van der Meulen, Qing Yu, and Kanneboyina Nagaraju

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Identification of disease specific pathways using in vivo SILAC proteomics in dystrophin deficient MDX mouse, Sree Rayavarapu, William Coley, Erdinc Cakir, Vanessa Jahnke, Shin'ichi Takeda, Yoshitsugu Aoki, Heather A. Gordish-Dressman, Jyoti K. Jaiswal, Eric P. Hoffman, Kristy J. Brown, Yetrib Hathout, and Kanneboyina Nagaraju

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Idiopathic inflammatory myopathies: Pathogenic mechanisms of muscle weakness, Sree Rayavarapu, William Coley, Travis B. Kinder, and Kanneboyina Nagaraju

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Activation of the ubiquitin proteasome pathway in a mouse model of inflammatory myopathy: A potential therapeutic target, Sree Rayavarapu, William Coley, Jack H. Van der Meulen, Erdinc Cakir, Kathyayini Tappeta, Travis B. Kinder, Blythe C. Dillingham, Kristy J. Brown, Yetrib Hathout, and Kanneboyina Nagaraju

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VBP15: Preclinical characterization of a novel anti-inflammatory delta 9,11 steroid, Erica K.M. Reeves, Eric P. Hoffman, Kanneboyina Nagaraju, Jesse M. Damsker, and John M. McCall

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Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA, Anne Rutkowski, Carsten Bonnemann, Susan Brown, Solveig Thorsteinsdottir, Janice Dominov, Markus A. Ruegg, Michelle L. Matter, Denis Guttridge, Rachelle H. Crosbie-Watson, Gabrielle Kardon, Kanneboyina Nagaraju, Mahasweta Girgenrath, and Dean J. Burkin

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The proton pump inhibitor lansoprazole improves the skeletal phenotype in dystrophin deficient mdx mice, Arpana Sali, Gina M. Many, Heather Gordish-Dressman, Jack Van der Meulen, Aditi Phadke, Christopher F. Spurney, Avital Cnaan, Eric P. Hoffman, and Kanneboyina Nagaraju

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DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells, Vishakha Sharma, Naoe Harafuji, Alexandra Belayew, and Yi-Wen Chen

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A de novo mutation in the beta-Tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with adrophy of the basal ganglia and cerebellum, Cas Simons, Nicole I. Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M. Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M. Grimmond, David Miller, Davide Tonduti, Johanna L. Schmidt, Robert S. Chudnow, Rudy van Coster, Lieven Lagae, Jill Kisler, Juergen Sperner, Marjo S. van der Knaap, Raphael Shiffmann, Ryan J. Taft, and Adeline Vanderver

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Rationality and emotionality: Serotonin transporter genotype influences reasoning bias, Melanie Stollstorff, Stephanie E. Bean, Lindsay M. Anderson, Joseph M. Devaney, and Chandan J. Vaidya

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Individual differences in emotion-cognition interactions: Emotional valence interacts with serotonin transporter genotype to influence brain systems involved in emotional reactivity and cognitive control, Melanie Stollstorff, Yuko Munakata, Arielle P.C. Jensen, Ryan M. Guild, Harry R. Smolker, Joseph M. Devaney, and Marie T. Banich

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Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome, Asako Takanohashi, Morgan Prust, Jichuan Wang, Miriam Bloom, Gillian I. Rice, Johanna L. Schmidt, Yanick J. Crow, Pierre Lebon, Taco W. Kuijpers, Kanneboyina Nagaraju, and Adeline Vanderver

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DUX4 expression in FSHD muscle cells: How could such a rare protein cause a myopathy?, Alexandra Tassin, Dalila Laoudj-Chenivesse, Celine Vanderplanck, Marietta Barro, Sebastien Charron, Eugenie Ansseau, Yi-Wen Chen, Jacques Mercier, Frederique Coppee, and Alexandra Belayew

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The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: Role of endogenous TLR ligands, Kitipong Uaesoontrachoon, Hee-Jae Cha, Beryl Ampong, Arpana Sali, Jack H. Vandermeulen, Benjamin Wei, Brittany Creeden, Tony Huynh, James Quinn, Kathleen Tatem, Sree Rayavarapu, Eric P. Hoffman, and Kanneboyina Nagaraju

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Simultaneous detection of nonpolar and polar compounds by heat-assisted laser ablation electrospray ionization mass spectrometry, Anu Vaikkinen, Bindesh Shrestha, Javad Nazarian, Risto Kostiainen, Akos Vertes, and Tiina J. Kauppila

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Factorial structure of the brief symptom inventory (BSI)-18 among chinese drug users, Jichuan Wang, Brian C. Kelly, Tieqiao Liu, Guanbai Zhang, and Wei Hao

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Omigapil treatment decreases fibrosis and improves respiratory rate in dy2J mouse model of congenital muscular dystrophy, Qing Yu, Arpana Sali, Jack Van der Meulen, Brittany K. Creeden, Heather Gordish-Dressman, Anne Rutkowski, Sree Rayavarapu, Kitipong Uaesoontrachoon, Tony Huynh, Kanneboyina Nagaraju, and Christopher F. Spurney

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Human cytomegalovirus inhibits apoptosis by proteasome-mediated degradation of bax at endoplasmic reticulum-mitochondrion contacts, Aiping Zhang, Richard L. Hildreth, and Anamaris M. Colberg-Poley

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Structure of the complex of Neisseria gonorrhoeae N-acetyl-l-glutamate synthase with a bound bisubstrate analog, Gengxiang Zhao, Norma M. Allewell, Mendel Tuchman, and Dashuang Shi

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Structure of N-acetyl-l-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor l-arginine bound., Gengxiang Zhao, Nantaporn Haskins, Zhongmin Jin, Norma M. Allewell, Mendel Tuchman, and Dashuang Shi

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Structure and function of Escherichia coli RimK, an ATP-grasp fold, L-glutamyl ligase enzyme, Gengxiang Zhao, Zhongmin Jin, Yanli Wang, Norma M. Allewell, Mendel Tuchman, and Dashuang Shi

Submissions from 2012

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Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery., Yoshitsugu Aoki, Toshifumi Yokota, Tetsuya Nagata, Akinori Nakamura, Jun Tanihata, Takashi Saito, Stephanie Duguez, Kanneboyina Nagaraju, Eric P. Hoffman, Terence Partridge, and Shin'ichi Takeda

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Δ-9,11 modification of glucocorticoids dissociates nuclear factor-κ B inhibitory efficacy from glucocorticoid response element-associated side effects, Andreas R. Baudy, Erica K.M. Reeves, Jesse M. Dankser, Christopher M. Heier, Lindsay M. Garvin, Blythe C. Dillingham, John McCall, Sree Rayavarapu, Zuyi Wang, Jack H. Vandermeulen, Arpana Sali, Vanessa Jahnke, Stephanie Duguez, Debra DuBois, Mary C. Rose, Kanneboyina Nagaraju, and Eric P. Hoffman

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Role of non-immune mechanisms of muscle damage in idiopathic inflammatory myopathies, William Coley, Sree Rayavarapu, and Kanneboyina Nagaraju

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Transcriptional regulation of n-acetylglutamate synthase, Sandra Kirsch Heibel, Giselle Yvette Lopez, Maria Panglao, Sonal Sodha, Leonardo Marino-Ramirez, Mendel Tuchman, and Ljubica Caldovic

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Mexiletine for treatment of myotonia: A trial triumph for rare disease networks., Eric P. Hoffman and Henry J. Kaminski

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A calm before the exome storm Coming together of dSMA and CMT2., Eric P. Hoffman and Kevin Talbot

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Microtubules underlie dysfunction in duchenne muscular dystrophy, Ramzi J. Khairallah, Guoli Shi, Francesca Sbrana, Benjamin L. Prosser, Carlos Borroto, Mark J. Mazaitis, Eric P. Hoffman, Anup Mahurkar, Fredrick Sachs, Yezhou Sun, Yi-Wen Chen, Roberto Raiteri, W. Jonathan Lederer, Susan G. Dorsey, and Christopher W. Ward

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Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies., Joe N. Kornegay, Janet R. Bogan, Daniel J. Bogan, Martin K. Childers, Peter Nghiem, Juan Li, David A. Detwiler, C. David Larsen, Robert W. Grange, Ratna K. Bhavaraju-Sanka, Sandra Tou, Bruce P. Keene, James F. Howard Jr., JiaHui Wang, Zheng Fan, Scott J. Schatzberg, Martin A. Styner, Kevin M. Flanigan, Xiao Xiao, and Eric P. Hoffman

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The Paradox of Muscle Hypertrophy in Muscular Dystrophy., Joe N. Kornegay, Martin K. Childers, Daniel J. Bogan, Janet R. Bogan, Peter Nghiem, JiaHui Wang, Zheng Fan, James F. Howard Jr., Scott J. Schatzberg, Jennifer L. Dow, Robert W. Grange, Martin A. Styner, Eric P. Hoffman, and Kathryn R. Wagner

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IL-6 signaling blockade increases inflammation but does not affect muscle function in the mdx mouse, Mathew A. Kostek, Kanneboyina Nagaraju, Emidio E. Pistilli, Arpana Sali, San-Huei Lai, Brad Gordon, and Yi-Wen Chen

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Deletion of galectin-3 exacerbates microglial activation and accelerates disease progression and demise in a SOD1 G93A mouse model of amyotrophic lateral sclerosis, Bruce J. Lerman, Eric P. Hoffman, Margaret L. Sutherland, Khaled Bouri, Daniel K. Hsu, Jeffrey D. Rothstein, and Susan M. Knoblach

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Sphingosine-1-phosphate enhances satellite cell activation in dystrophic muscles through a S1PR2/STAT3 signaling pathway, Kenneth C. Loh, Weng-In Leong, Morgan E. Carlson, Babak Oskouian, Ashok Kumar, Henrik Fyrst, Meng Zhang, Richard L. Proia, Eric P. Hoffman, and Julie D. Saba

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Eps homology domain endosomal transport proteins differentially localize to the neuromuscular junction, Suzanne E. Mate, Jack H. Van der Meulen, Priyanka Arya, Sohinee Bhattacharyya, Hamid Band, and Eric P. Hoffman

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Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice, Sachchida Nand Pandey, Jennifer Cabotage, Rongye Shi, Manjusha Dixit, Margaret L. Sutherland, Jian Liu, Stephanie Muger, Scott Q. Harper, Kanneboyina Nagaraju, and Yi-Wen Chen

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Glucocorticoid-treated mice are an inappropriate positive control for long-term preclinical studies in the mdx mouse, Arpana Sali, Alfredo D. Guerron, Heather Gordish-Dressman, Christopher F. Spurney, Micaela Iantorno, Eric P. Hoffman, and Kanneboyina Nagaraju

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Family history of autoimmune disease in patients with Aicardi-Goutières syndrome, Johanna L. Schmidt, Ivana Olivieri, Jodie M. Vento, Elisa Fazzi, Heather A. Gordish-Dressman, Simona Orcesi, and Adeline Vanderver

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Platelets induce apoptosis during sepsis in a contact-dependent manner that is inhibited by GPIIb/IIIa blockade, Matthew Sharron, Claire E. Hoptay, Andrew A. Wiles, Lindsay M. Garvin, Mayya Geha, Angela S. Benton, Kanneboyina Nagaraju, and Robert J. Freishtat

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Crystal structure and biochemical properties of putrescine carbamoyltransferase from Enterococcus faecalis: Assembly, active site, and allosteric regulation., Dashuang Shi, Xiaolin Yu, Gengxiang Zhao, Jeremy Ho, Norma M. Allewell, and Mendel Tuchman

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Variants of the ankyrin repeat domain 6 gene (ANKRD6) and muscle and physical activity phenotypes among European-derived American adults, Katherine N. Van Deviere, Sarah K. Stanton, Mathew A. Kostek, Theodore J. Angelopoulos, Priscilla M. Clarkson, Niall M. Moyna, Paul Visich, Robert F. Zoeller, Joseph M. Devaney, Heather Gordish-Dressman, Eric P. Hoffman, Carl M. Maresh, and Linda S. Pescatello

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Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training, S. Walsh, C. J. Haddad, M. A. Kostek, T. J. Angelopoulos, P. M. Clarkson, Niall M. Moyna, Paul S. Visich, Robert F. Zoeller, R. L. Seip, S. Bilbie, Heather A. Gordish-Dressman, Eric P. Hoffman, Thomas B. Price, and L. S. Pescatello

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Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene, Jianhua Wei, Yang Xue, Lian Wu, Jie Ma, Xiuli Yi, Junrui Zhang, Bin Lu, Chunying Li, Dashuang Shi, Songtao Shi, Xinghua Feng, and Tao Cai

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Localization of inflammatory mediators in pediatric sinus mucosa., Xiaofang Wu, Remy Mimms, Roberta Lima, Jennifer Peters-Hall, Mary C. Rose, and Maria T. Pena

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Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs, Toshifumi Yokota, Akinori Nakamura, Tetsuya Nagata, Takashi Saito, Masanori Kobayashi, Yoshitsugu Aoki, Yusuke Echigoya, Terence A. Partridge, Eric P. Hoffman, and Shinichi Takeda

Submissions from 2011

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Evolution and comparative genomics of subcellular specializations: EST sequencing of Torpedo electric organ., Javad Nazarian, Deborah L Berry, Salar Sanjari, Mohammed Razvi, Kristy Brown, Yetrib Hathout, Akos Vertes, Sherry Dadgar, and Eric P. Hoffman