Submissions from 2016
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
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
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
Somatic Mosaicism Due to a Reversion Variant Causing Hemi-atrophy: A Novel Variant of Dystrophinopathy., Jaya Punetha, Simin Mansoor, Tulio E Bertorini, Akanchha Kesari, Kristy J Brown, and Eric P Hoffman
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
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
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
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
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 Hoffman, Sheila O Walker, and Douglas A Granger
Submissions from 2015
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
S100 and annexin proteins identify cell membrane damage as the Achilles heel of metastatic cancer cells, Jyoti K. Jaiswal and Jesper Nylandsted
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
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
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
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
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
Targeted single molecule sequencing methodology for ovarian hyperstimulation syndrome., Funda Orkunoglu-Suer, Arthur F. Harralson, David Frankfurter, Paul Gindoff, and Travis J. O'Brien
Culture Conditions Affect Expression of DUX4 in FSHD Myoblasts, Sachchida Nand Pandey, Hunain Khawaja, and Yi-Wen Chen
"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
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
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
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
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
From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases., Dashuang Shi, Norma M. Allewell, and Mendel Tuchman
The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms, Dashuang Shi, Norma M. Allewell, and Mendel Tuchman
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults., M Tarnopolsky, Eric P. Hoffman, M Giri, J Shoffner, and L Brady
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
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
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
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
Development of glandular models from human nasal progenitor cells., Xiaofang Wu, Remy Mimms, Maureen Banigan, Michael Lee, Viktoria Elkis, Jennifer R Peters-Hall, Humaira Mubeen, Andrew Joselow, Maria T Peña, and Mary C Rose
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
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
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
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
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
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
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
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
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
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
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
IL-1β induction of MUC5AC gene expression is mediated by CREB and NF-κB and repressed by dexamethasone, Yajun Chen, Lindsay M. Garvin, Tracey J. Nickola, Alan M. Watson, Anamaris M. Colberg-Poley, and Mary C. Rose
Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy, Sherry Dadgar, Zuyi Wang, Helen Johnston, Akanchha Kesari, Kanneboyina Nagaraju, Yi-Wen Chen, D. Ashley Hill, Terence A. Partridge, Robert J. Freishtat, Javad Nazarian, Jianhua Xuan, Yue Wang, and Eric P. Hoffman
Imaging cell membrane injury and subcellular processes involved in repair, Aurelia Defour, S. C. Sreetama, and Jyoti K. Jaiswal
Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion, Aurelia Defour, Jack H. Van der Meulen, Rujuta R. Bhatt, Anne Bigot, R. Bashir, Kanneboyina Nagaraju, and Jyoti K. Jaiswal
High rates of HIV seroconversion in pregnant women and low reported levels of HIV testing among male partners in southern Mozambique: Results from a mixed methods study, Caroline De Schacht, Heather J. Hoffman, Nedio Mabunda, Carlota Lucas, Catharina L. Alons, Ana Madonela, Adolfo Vubil, Orlando C. Ferreira, Nurbai Calu, Iolanda S. Santos, Ilesh V. Jani, and Laura Guay
High HIV incidence in the postpartum period sustains vertical transmission in settings with generalized epidemics: A cohort study in Southern Mozambique, Caroline De Schacht, Nedia Mabunda, Orlando C. Ferreira Jr., Nalia Ismael, Nurbai Calu, Iolanda Santos, Heather J. Hoffman, Catharina Alons, Laura Guay, and Ilesh V. Jani
A 50-SNP assay for biogeographic ancestry and phenotype prediction in the U.S. population, Katherine Butler Gettings, Ronald Lai, Joni L. Johnson, Michelle A. Peck, Jessica A. Hart, Heather A. Gordish-Dressman, Moses S. Schanfield, and Daniele S. Podini
Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients, Yetrib Hathout, Ramya L. Marathi, Sree Rayavarapu, Aiping Zhang, Kristy J. Brown, Haeri Seol, Heather A. Gordish-Dressman, Sebahattin Cirak, Luca Bello, Kanneboyina Nagaraju, Terence A. Partridge, Eric P. Hoffman, Shinichi Takeda, Jean K. Mah, Erik Henricson, and Craig McDonald
Non-invasive MRI and spectroscopy of mdx mice reveal temporal changes in dystrophic muscle imaging and in energy deficits., Christopher R. Heier, Alfredo D. Guerron, Alexandru Korotcov, Stephen Lin, Heather Gordish-Dressman, Stanley Fricke, Raymond W. Sze, Eric P. Hoffman, Paul Wang, and Kanneboyina Nagaraju
Role of toll-like receptors in the pathogenesis of dystrophin-deficient skeletal and heart muscle, Andrea Henriques-Pons, Qing Yu, Sree Rayavarapu, Tatiana V. Cohen, Beryl Ampong, Hee Jae Cha, Vanessa Jahnke, Jack H. Van der Meulen, Daqing Wang, Weiwen Jiang, Ekambar R. Kandimalla, Sudhir Agrawal, Christopher F. Spurney, and Kanneboyina Nagaraju
Exon-skipping therapy: a roadblock, detour, or bump in the road?, Eric P. Hoffman and Elizabeth M. McNally
Metabolite signatures of exercise training in human skeletal muscle relate to mitochondrial remodelling and cardiometabolic fitness, Kim M. Huffman, Timothy R. Koves, Monica J. Hubal, Hiba Abouassi, Nina Beri, Lori A. Bateman, Eric P. Hoffman, and & 4 additional authors...
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability, David Hunt, Richard J. Leventer, Cas Simons, Ryan J. Taft, Kathryn J. Swoboda, Mary Gawne-Cain, Alex C. Magee, Perter D. Turnpenny, and Diana Baralle
S100A11 is required for efficient plasma membrane repair and survival of invasive cancer cells, Jyoti K. Jaiswal, Sinte P. Lauritzen, Luana Scheffer, Masakiyo Sakaguchi, Jakob Bunkenborg, Sanford M. Simon, Tuula Kallunki, Marja Jaattella, and Jesper Nylandsted
Lysine carboxylation: Unveiling a spontaneous post-translational modification, David Jimenez-Morales, Larisa Adamian, Dashuang Shi, and Jiang Lie
Predicting the severity of motor neuron disease progression using electronic health record data with a cloud computing Big Data approach., Kyung Dae Ko, Tarek El-Ghazawi, Dongkyu Kim, Hiroki Morizono, and Pooled Resource Open-Access ALS Clinical Trials Consortium
Gene sequences regulating the production of apoE and cerebral palsy of variable severity, Espen Lien, Guro L. Andersen, Yongde Bao, Heather A. Gordish-Dressman, Jon S. Skranes, James A. Blackman, and Torstein Vik
Expression, crystallization and preliminary X-ray diffraction analysis of thioredoxin glutathione reductase from Schistosoma japonicum in complex with FAD., Yongdong Li, Qunfeng Wu, Yun Peng, Fuyan Huang, Xun Li, Lin Chen, Dashuang Shi, Xiaonong Zhou, and Xiaolin Fan
Rapid identification of a novel complex I MT-ND2 m.10134C>A mutation in a Leigh syndrome patient, David K. Miller, Minal J. Menezes, Cas Simons, Lisa G. Riley, Sandra T. Cooper, Sean M. Grimmond, David R. Thorburn, John Christodoulou, and Ryan J. Taft
MiR-184 regulates ezrin, LAMP-1 expression, affects phagocytosis in human retinal pigment epithelium and is downregulated in age-related macular degeneration, Najiba Murad, Maria Kokkinaki, Nishantha Gunawardena, Mia S. Gunawan, Yetrib Hathout, Karolina J. Janczura, Alexander C. Theos, and Nady Golestaneh
Morpholino treatment improves muscle function and pathology of Pitx1 transgenic mice, Sonika N. Pandey, Yi-Chien Lee, Toshifumi Yokota, and Yi-Wen Chen
Rhinovirus infection in young children is associated with elevated airway TSLP levels., Geovanny F. Perez, Krishna Pancham, Shehlanoor Huseni, Diego Preciado, Robert J. Freishtat, Anamaris M. Colberg-Poley, Eric P. Hoffman, Mary C. Rose, and Gustavo Nino
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies, Roberta L. Piana, Davide Tonduti, Heather A. Gordish-Dressman, Johanna L. Schmidt, Jonathan Murnick, Bernard Brais, Geneviève Bernard, and Adeline Vanderver
Exome Sequencing of Pleuropulmonary Blastoma Reveals Frequent Biallelic Loss of TP53 and Two Hits in DICER1 Resulting in Retention of 5p-Derived miRNA Hairpin Loop Sequences., T J Pugh, W Yu, J Yang, A L Field, L Ambrogio, S L Carter, K Cibulskis, P Giannikopoulos, A Kiezun, J Kim, A McKenna, E Nickerson, G Getz, S Hoffher, Y H Messinger, L P Dehner, C W M Roberts, C Rodriguez-Galindo, G M Williams, C T Rossi, M Meyerson, and D A Hill
Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Roger Rosenberg and Eric P. Hoffman
Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes, Amanda M. Saratsis, Madhuri Kambampati, Kendall Snyder, Sridevi Yadavilli, Joseph M. Devaney, Brennan Harmon, Jordan Hall, Eric H. Raabe, Ping An, Melanie Weingart, Brian R. Rood, Suresh N. Magge, Tobey J. MacDonald, Roger J. Packer, and Javad Nazarian
Association between financial dependence and tobacco use among young adults, Carolyn Stalgaitis, Jessica Rath, Valerie Williams, and Heather J. Hoffman
Behavioral and locomotor measurements using an open field activity monitoring system for skeletal muscle diseases, Kathleen S. Tatem, James L. Quinn, Aditi Phadke, Qing Yu, Heather A. Gordish-Dressman, and Kanneboyina Nagaraju
Knowledge-fused differential dependency network models for detecting significant rewiring in biological networks, Ye Tian, Bai Zhang, Eric P. Hoffman, Robert Clarke, Zhen Zhang, Ie-Ming Shih, Jianhua Xuan, David M. Herrington, and Yue Wang