Abstract Reference and Poster Numbers

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  1. Exosomal delivery of Wnt7a as a therapeutic approach for muscle wasting diseases. Javandoost, E, Datzkiw, D, Gurriarán‐Rodríguez, U, & Rudnicki, M.
  2. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Roos, A, van der Ven, PFM, Alrohaif, H, Kölbel, H, Heil, L, Della Marina, A, Weis, J, Töpf, A, Vorgerd, M, Schara-Schmidt, U, Gangfuss, A, Evangelista, T, Hentschel, A, Grüneboom, A, Fuerst, DO, Kuechler, A, Tzschach, A, Depienne, C, Lochmüller, H.
  3. The effects of altering PARylation dynamics in cancer cachexia: The hidden risk of PARP1 inhibition on muscle. Nik-Akhtar. A, Green. A.E, Menzies. K.J.
  4. Delineating the role of Poly-ADP-ribosylation on Skeletal Muscle Function in Healthy Mature Mice. Pandey, D. K., Green A. E., Perras B.L.& Menzies K.J.
  5. The effect of concurrent resistance and repeated sprint exercise on circadian rhythms of growth hormone and insulin like growth factor-I in active male. Zilaei Bouri, M, Zilaei Bouri, Sh, Varzandeh, H, & Shekari, I
  6. In the D2.mdx mouse model of Duchenne muscular dystrophy, adiponectin-receptor agonism prevents right ventricular cardiac fibrosis, hypertrophy, and mitochondrial stress. Gandhi, S, Delfinis, LJ, Garibotti, MC, Bellissimo, CA, Goli, AN, Castellani, LN, Yakobov, S, Backx, PH, Edgett, BA, Simpson, JA, & Perry, CGR
  7. Transcriptional landscape of MLIP in pediatric and adult myopathy patients. Alexie Gagné, Sébastien Audet, Jean Mezreani, Laura Hamilton, Valérie Triassi, Adrien Rihoux, Erin O’Ferrall, Jason Karamchandani, Sandra Donkervoort, Carsten Bonnemann & Martine Tétreault
  8. Clearance of defective muscle stem cells by senolytics reduces the expression of senescence-associated secretory phenotype and restores myogenesis in myotonic dystrophy type 1. Talita C. Conte, Gilberto Duran-Bishop, Zakaria Orfi, Inès Mokhtari, Alyson Deprez, Isabelle Côté, Thomas Molina, Taeyeon Kim, Lydia Tellier, Marie-Pier Roussel, Damien Maggiorani, Basma Benabdallah, Severine Leclerc, Lara Feulner, Ornella Pellerito, Jean Mathieu, Gregor Andelfinger, Cynthia Gagnon, Christian Beauséjour, Serge McGraw, Elise Duchesne, and Nicolas A. Dumont
  9. A Model of Cell Population Dynamics in Skeletal Muscle Regeneration. Renad Al-Ghazawi, Theodore J. Perkins, Xiaojian Shao
  10. Unravelling Myoblast Potential: A Breakthrough in CRISPR/Cas9 Efficiency. Adrien Rihoux, Alexie Gagné, Laura K. Hamilton, Martine Tétreault
  11. GNE myopathy: a novel method for the estimation of disease prevalence using genomic databases. Derksen, A, Thompson, R, Spendiff, S, Lochmüller, H
  12. Uncovering the mechanism of muscle damage in cancer cachexia. Strong, N, Brown, A, & Wiper-Bergeron, N
  13. Elimination of senescent cells by senolytics as a new therapeutic strategy for Myotonic Dystrophy type 1. Kim, T, Mokhtari, I, Koike, T, & Dumont, N
  14. Validation lab: allowing standardized in vitro and in vivo experiments for candidate treatments for Duchenne muscular dystrophy. Annemieke Aartsma-Rus, Davy Van De Vijver, Tiberiu Loredan Stan
  15. A new motor skill test and tool for mouse models of muscle-wasting conditions. Hepburn, G, Cetin, Ö, Kanwal, N, Kishkinev, D, Bowerman, M
  16. Understanding the Role of GFPT1 and O-GlcNAcylation in Congenital Myasthenic Syndromes. Holland, S. H, O'Connor, K, O'Neil, D, Carmona-Martinez, R, Ho, K, Spendiff, S, & Lochmuller, H
  17. Of mice and men: humanizing mdx and dysferlin KO mice by mimicking human muscular dystrophy-associated lipoprotein and intramuscular cholesterol abnormalities. Zeren Sun, Zoe White, Pascal Bernatchez
  18. Liver SMN restoration rescues Smn2B/- mouse model of SMA: the key to rescue whole-body pathology? Sutton, E, Yaworski R, Beauvais A, Reilly A, Deguise MO, Parks R, Poulin K, Schneider B, Kothary R
  19. Using Saturation Mutagenesis-Reinforced Functional Assays (SMuRF) to improve the variant interpretation for alpha-dystroglycan glycosylation enzymes. Ma, K, Ng, K, Huang, S, Lake, N, Xu, J, Ge, L, Woodman, K, Koczwara, K, Lek, A & Lek, M
  20. Muscle MRI Pattern Recognition for Muscular Dystrophies: The Era of Artificial Intelligence. Issa Alawneh Sameer Alawna Hernan Gonorazky
  21. Protein glutathionylation is regulated by mitochondrial fragmentation to facilitate muscle stem cell function. Triolo, M, Larionov, N, & Khacho, M
  22. The mitochondrial fusion protein OPA1 regulates key metabolites that co-ordinate muscle stem cell function. Steven Wade, Matthew Triolo, Rholls Tomsine, Nikita Larionov and Mireille Khacho
  23. Pannexin 1 dysregulation in Duchenne muscular dystrophy and its exacerbation of dystrophic features in mdx mice. Emily Freeman, Stéphanie Langlois, Marcos F. Leyba, Tarek Ammar, Zacharie Léger, Hugh J. McMillan, Jean-Marc Renaud, Bernard J. Jasmin, Kyle N. Cowan
  24. Myoinflammation disrupts mitochondrial dynamics and function in a human myositis model. Meyer, S, Kazmaier, LP Ramos-Gomes, F, Hoffmann, D, Schmidt, J, Alves, F, & Zschüntzsch, J
  25. Understanding Muscle Regeneration: Insights from Boolean Logical Modeling of Signaling Pathways. Praveen Kumar Guttula, Theodore J. Perkins, & Xiaojian Shao
  26. Identification of cytokinins as a stress-responsive component of the muscle secretome. Tobin, SW, Seegobin, M, Rico, AL, Westby, B, Kisiala, A, & Emery, RJN
  27. Inhibition of the mitochondrial fusion protein OPA1 blocks myogenic differentiation. Agarwal, S, Triolo, M, & Khacho, M
  28. Investigating beta-2 adrenergic agonist treatment alternatives for congenital myasthenic syndromes. Ho, K, Spendiff, S, & Lochmüller, H
  29. Calpastatin compensation restores neuromuscular dysfunction in a genetic model of C9orf72 ALS. Butti,Z, Lescouzères,L, Chaineau, M, Durcan,T & Patten,K
  30. Developing an optogenetic reference model for congenital myasthenic syndromes. Lau, J, Gaudreau, S, Bui, T, & Lochmüller, H
  31. How much transferrin receptor is enough: the therapeutic consequences of different levels of transferrin receptor in preclinical models. Stoodley, J, Seoane Miraz, D, Halloy, F, Reiné J, Galindo Riera, N, Nikel L, Chalcroft R, Ellerington R, Webster C.I, Wood M.J.A& Varela M.A
  32. Correcting mutations responsible for dysferlinopathies using Prime editing. Camille Bouchard, Joel Rousseau, Jacques P Tremblay
  33. Development of a gene therapy treatment for RYR1-related diseases using prime editing. Kelly Godbout, Joël Rousseau, & Jacques P. Tremblay
  34. Mapping a national Duchenne Muscular Dystrophy registry to the International Classification of Functioning, Disability, and Health. Westbury, G, Bourcier, D, Hodgkinson, V, Dyck, A, Worsfold, N, Osman, H, Korngut, L, & Sheriko, J, on behalf of the CNDR Investigator Network
  35. Effect of DMD gene mutation classes on baseline and drug response motor outcomes and adrenal suppression: Studies in the vamorolone trials. Fang, Y, Dang, U, Illei, KI, Guglieri, M, Clemens, PR, and Hoffman, EP on behalf of CINRG and VBP15-004 investigators.
  36. Identifying a role for the sigma-1 receptor in lipid homeostasis. Fleming, KL, & Khacho, M
  37. Impaired myogenic capacity of muscle stem cells in models of Collagen VI myopathy. Zakaria Orfi, Alyson Deprez, Thomas Molina, Philippe M. Campeau, Nicolas Dumont
  38. Morning and ACTH stimulated cortisol in steroid-naïve vs steroid-treated boys with Duchenne muscular dystrophy. Tobin, T, Ahmet, A, Ward, L.M, Guglieri, M, Clemens, P.R, Dang, U.J, & Hoffman, E.Pon behalf of CINRG and VBP15-004 investigators
  39. Reliability of myometry and clinical outcomes in two steroid-naïve clinical trial-based cohorts of young boys with DMD. Tobin, R, Hoffman, E.P, Guglieri, M, Clemens, P.R, VBP15-LTE and VBP15-004 investigators, & Dang, U.J
  40. Investigating the role of chronic OPA1 loss in muscle stem cell maintenance and activity. Sommers, O, Wade, S, Triolo, M, & Khacho, M
  41. Cystine/Glutamate Antiporter, xCT, Controls Skeletal Muscle Cellular Redox and Regeneration. Michel Kanaan, Charbel Karam, Gurrose Gahla, Jian Xuan,Chantal Pileggiand Mary-Ellen Harper
  42. Effects of EDG-5506, a Fast Myosin Modulator, on Function and Biomarkers of Muscle Damage in Adults with Becker Muscular Dystrophy (BMD). Collins, S, Phan, H, Russell, A, Barthel, B, Thaler, L, Kilburn, N, Mancini, M, MacDougall, J, Donovan, J
  43. Genetic exploration of exertional Heat Stroke. Alioune Fall, Julie Brocard, Clara Charpentier, Nathalie Roux-Buisson, Amy Lee, Isabelle Marty and Julien Fauré
  44. Spatial analysis of skeletal muscle identifies markers of histopathological tissue alterations in Duchenne mouse models. Heezen, LGM, Abdelaal, T van Putten, M, Aartsma-Rus, A, Mahfouz, A1,2,5 & Spitali, P
  45. Characterizing the role of OPA1-mediated metabolite signaling in altering epigenetic marks in muscle stem cells. Rholls, T, Steven, W, Nikita, L, & Mireille, K
  46. Myocyte-secreted TWEAK promotes myoblast fusion during muscle regeneration. Lala-Tabbert, N, Humphrey, A, Earl, N,Ratsun, D, LaCasse, EC & Korneluk, RG
  47. Fibro-adipogenic progenitors and bioactive lipids interaction, a key partnership for muscle regeneration. Molina, T, Fabre, P, Deprez, A, & Dumont, N
  48. Unraveling the pathophysiology of Bethlem Myopathy using a unique zebrafish model for the disease. Romane Idoux, Chloé Exbrayat-Heritier, Sandrine Bretaud, Francisco Ignacio Jaque-Fernandez, Christine Berthier, Vincent Jacquemond, Florence Ruggiero and Bruno Allard
  49. Design of the phase 1/2 DELIVER study of DYNE-251 in males with DMD mutations amenable to exon 51 skipping. Novack, A, Naylor, ML, Mix, C, Han, B, & Dugar, A
  50. The Glucocorticoid receptor is a critical regulator of muscle satellite cell quiescence. Rajgara, R, AlSudais, H, Brown, A, Saleh, A, Barrakad, I, Blais, A& Wiper-Bergeron, N.
  51. A multi-cohort monitoring biomarker effort for Duchenne muscular dystrophy. Dang, UJ, Tobi, R, Tsonaka, R, Al-Khalili, C, Requena, AJ, Degan, C, Johansson, C, de Vries, S, van der Burgt, Y, Diaz-Manera, J, Guglieri, M, Spitali, P, CINRG-DNHS Investigators, FOR-DMD investigators, & Hathout, Y.
  52. Whole eggs for reducing inflammation and promoting muscle repair in adults with obesity: preliminary results. Kayleigh M Beaudry, & Michael De Lisio
  53. Delineating the role of pannexin1 in skeletal muscle development, function, and regeneration. Beaudry, K, Belliveau, S, Langlois, S, & Cowan, KN
  54. Outcomes of early treated infants with spinal muscular atrophy: A multicenter retrospective cohort study. Goedeker, N, Rogers, A, Fisher, M, Arya, K, Brandsema, J, Farah, H, Farrar, M, Felker, M, Galgani, C, Gibbons, M, Abdul Hamid, O, Harmelink, M MD, Herbert, K, Kichula, E, King, K, Lakhotia, A, Lee, B, Kuntz, N, Parsons, J, Rehborg, R, Schaller, E, Veerapaniyan, A, & Zaidman, C MD
  55. Sexual dimorphism in muscle stem cells. Robertson, R, Granet, JA, & Chang, N
  56. Inhibition of translation initiation factor eIF4A improves myogenesis in Duchenne muscular dystrophy muscle progenitors. Filippelli, RL, Robertson, R, Thomas, J, Granet, JA, Gallouzi, IE, Pelletier, J, Chang, NC
  57. Skeletal muscle ablation of Pik3c2b improves systemic energy metabolism and enhances muscle oxidative capacity. Pannia, E, Ghahramani-Seno, MM, Sabha, N, Simonian,R, Rezai, K, Lyons, S, Delfinis, LJ, Perry, C GR, Beaudry, J& Dowling, JJ.
  58. Loss of C9orf72 affects crucial aspects of nucleocytoplasmic transport processes, which can contribute to TDP-43 mislocalization in ALS. Philip McGoldrick, Agnes Lau, Lilian Lin, Zhipeng You, Thomas M Durcan & Janice Robertson
  59. The Thymus in the Pathogenesis/Pathophysiology of Amyotrophic Lateral Sclerosis. Lemos, JP, Grandi, F, Pezet, S, Butler-Browne, G, Mouly, V, Savino, W, & Smeriglio, P
  60. Practice patterns of newborn screen identified infants with spinal muscular atrophy in the United States. Wedge, E, & Zaidman, CM
  61. Studying the Effects of Blocking TDP-43 SUMOylation on the Cellular Stress Response. Zhang, J, Suk, T, Nguyen, T, Callaghan, S, & Rousseaux, M
  62. Impaired Pink1 Mediated Mitophagy Alters Muscle Stem Cell Fate Decision and Muscle Regenerative Capacity. George Cairns, Madhavee Thumiah-Mootoo, Mah Rukh Abassi, Jeremy Racine, Nikita Larionov, Alexandre Prola, Mireille Khacho, & Yan Burelle
  63. The role of the mitophagy receptor Nix in muscle stem cell fate decision and muscle regeneration. Racine, J, Abassi, MR, Cairns, G, Vakhal, B, Cueillerier, A, Larionov, N, Khacho, M, Burelle, Y
  64. A single-nucleus epigenomic and transcriptomic atlas of ALS and FTLD reveals transcription factor-mediated dysregulation together with a deep learning-based decoding of alternative polyadenylation grammar. McKeever, Paul M, Sababi, Aiden M, Sharma, Raghav, Khuu, Nicholas, Xu, Zhiyu, Shen, Shu Yi, Xiao, Shangxi, McGoldrick, Philip, Orouji, Elias, Ketela, Troy, Sato, Christine, Moreno, Danielle, Visanji, Naomi, Kovacs, Gabor G., Goodarzi, Hani, Keith, Julia, Zinman, Lorne, Rogaeva, Ekaterina, Bader, Gary D, & Robertson, Janice
  65. Delayed diagnosis of the common single mtDNA deletion due to an atypical multisystem presentation. Meyer, S, Sadikovic, B, Breiner, A, Horvath, R, Lochmüller, H & Hamilton, L
  66. Regulation of immune cell-mediated muscle fibrosis by the IAPs: A potential therapeutic target for DMD. Noah Robert, Neena Lala-Tabbert, Nathalie Earl, Allan Humphrey, Shawn Beug, Robert G. Korneluk & Eric Lacasse
  67. ClC-1 inhibitor compound improves neuromuscular transmission and enhances skeletal muscle function in pre-clinical animal models of neuromuscular dysfunction. Skals, M, Morgen, J. J, Skov, M. B, Huus, N, Broch-Lips, M, & Pedersen, T. H
  68. An innate immune cell/FSHD muscle xenograft model to investigate the role of complement in FSHD muscle pathology. Katelyn Daman, Jing Yan, Leonard Shultz, Michael Brehm & Charles P. Emerson, Jr.
  69. hiPSC iMyoblasts for muscular dystrophy disease modeling and stem cell therapy. Dongsheng Guo, Katelyn Daman, Sukanya Iyer, Jennifer Chen, Jing Yan, Meng-jiao Shi, Lawrence Hayward, Oliver King, Scot A Wolfe, Charles P Emerson, Jr.
  70. ClC-1 inhibition enhances neuromuscular transmission by reducing chloride current in skeletal muscle fibers. Dybdahl, K. L. T, Riisager, A, Findsen, A, Winter, J, Thomasen, P. B, Broch-Lips, M, Pedersen, T. H, & Skov, M. B
  71. Is sensory neuropathy as a comorbid condition in Pompe disease? Babaee, M, Rahmati,M, Dehdahsi, S, Lochmuller, H, Bahrami,MH & Rayegani, SM
  72. Identification of FDA-approved drugs that inhibit STAU1 induction during skeletal muscle atrophy and maintain myofiber size. Charron, M, Almasi, S, Chen, H, Ravel-Chapuis, A, & Jasmin, B
  73. FREEDOM-DM1: Nonclinical data support the Phase 1 study design to assess safety, tolerability, pharmacokinetics, and pharmacodynamics of PGN-EDODM1 in adults with myotonic dystrophy Type 1 (DM1). Holland, A, Lonkar, P, Furling, D, Klein, A, Shoskes, J, Larkindale, J, Vacca, S, Garg B, Yu, S, Foy J, Mellion M & Goyal, J,
  74. Positive Results from a First-in-Human Study Support Continued Development of PGN-EDO51 for the Treatment of Duchenne Muscular Dystrophy (DMD). Michelle Mellion, Jane Larkindale, Pallavi Lonkar, Jaya Goyal, Ashling Holland, Jeffrey Foy, Brijesh Garg, Shaoxia Yu, Chris Abbott, Niels Svenstrup, Sarah Vacca
  75. CONNECT-EDO51: Nonclinical and Phase 1 Data Support Phase 2 Trial Designs to Continue Evaluating Safety and Efficacy of PGN-EDO51 for Duchenne Muscular Dystrophy (DMD) Amenable to Exon 51 Skipping. Jane Larkindale, Sarah Vacca, Pallavi Lonkar, Cole Emanuelson, Mangala Soundar, Jennifer Shoskes, Jaya Goyal, Ashling Holland, Jeffrey Foy, Brijesh Garg, Shaoxia Yu, Michelle Mellion
  76. Cellular and molecular drivers of skeletal muscle pathology in RNA toxicity. Mahadevan MS & Yadava RS
  77. Single-cell RNA sequencing identifies FAPs and inflammatory signalling as mediators of radiation-induced fibrosis. Collao, N, Johannsen, E.B, Just, J, & De Lisio, M
  78. LC/MS-based quantification of the NAD+ metabolome of mouse liver and skeletal muscle after supplementation with the NAD+ precursor nicotinamide riboside. Azouaoui, D, Naz, S, Green, A.E, Patten, D.A, Iqbal, M.A, Fletcher, E, Menzies, K.J
  79. Increased Mitochondrial Biogenesis in ADP-ribosylhydrolase 3 (ARH3) Knockout Myotubes. Perras, B.L, Green, A.E, & Menzies, K.J
  80. Deciphering the mechanisms involved in AMPK-induced therapeutic benefits in Myotonic Dystrophy Type 1 skeletal muscle. Fahmi, C, Ravel-Chapuis, A, Lessard, L, Mounier, R & Jasmin, B
  81. Characterization of Bitter Melon Natural Compounds that Activate AMPK Signaling as Novel Therapeutics for Myotonic Dystrophy Type 1 (DM1). Atieh, S, Ravel-Chapuis, A, Liu, J, Ye, Y, Tang, C & Jasmin, B
  82. Indirect communication signals from the tumour to the muscle with cancer cachexia. Brown, A, Strong, N, Saleh, A, Wiper-Bergeron, N
  83. Exercise impact on insulin resistance in Myotonic Dystrophy Type 1. Adjei-Afriyie, O, Manta, A, O’Connor, K, Spendiff, S, & Lochmüller, H
  84. Investigation of Liver Intrinsic Defects in Spinal Muscular Atrophy. Reilly, A, de Almeida, M.M.A, Palidwor, G, Deguise, M-O, & Kothary, R
  85. A Phase 1b/2 open-label study of WVE-N531 in patients with Duchenne Muscular Dystrophy: Part A results and Part B study design. Tillinger, M, Campbell, C, Hu, XS, Narayanan, P, Hart, A, Haegele, JA, Lamore, S, Bhatia, S, Singh, K, Reinhardt, J, Ghosh, A, Xu, D, Casey, C, Panzara, M, & Li-Kwai-Cheung, AM
  86. Compliance to Duchenne Muscular Dystrophy Care Considerations in Canada. Osman, H, Lintern, S, Larocca, V, Adamji, Z, Beattie, E, Worsfold, N, Selby, K, Campbell, C, Lochmuller, H, the Canadian DMD Care Considerations Group
  87. Recombinant human Laminin-111 restores adhesion-signaling complexes in a mouse model of LAMA2-CMD. Hermann, HJ, Wuebbles, R, Dagda, M, & Burkin, DJ
  88. Single nucleus isolation from human skeletal muscle. Soule, T, Pontifex, CS, Rosin, N, Joel, M, Lee, S, Nguyen, MD, Chhibber, S, & Pfeffer, G
  89. Allele-specific epigenome editing of COL6A2 in patient-derived fibroblasts. Haarich, F, Odenthal, N, Erdmann, J & Aherrahrou, Z
  90. Characterization of DEPP1, a new player of autophagy that regulates skeletal muscle integrity. Leduc-Gaudet, JP, Ayoub, MB, Cefis, M, Franco-Romero, A, Marcangeli, V, Dulac, M, Wang, A, Sedraoui, S, Mayaki, D, Huck, L, Sandri, M, Hussain, SNA, Gouspillou, G
  91. The Role of Non-coding RNAs in the Molecular Regulation of Long-term Self-renewing Muscle Stem Cells. Ashekyan, O, Guilhot, C, Lin, A, & Rudnicki, M
  92. Investigating the molecular mechanisms by which SMN regulates translation in motor neurons. Didillon, A, Paris, G, Mostefai, F, Konci, X, Sikora, D, Tremblay-Laganière, C, Laframboise, J, & Côté, J
  93. Identification of low metabolic MuSC subpopulation displaying long term self-renewal properties. Guilhot, C, Lin, AYT, Ashekyan,O, Rudnicki, MA
  94. Vamorolone shows efficacy and increases dystrophin protein in novel Becker muscular dystrophy mice. Nikki M. McCormack, Nhu Y. Nguyen, Christopher B. Tully, Trinitee Oliver, Alyson A. Fiorillo, & Christopher R. Heier
  95. Development of an orally available therapeutic drug to address the root cause of progressive muscle loss in Duchenne muscular dystrophy. Smid, J, Kodippili, K, Jaquith, J, Mitchell, R, Lambert, P, & Rudnicki, M
  96. Mechanistic understanding of BCAS3 in skeletal muscle health: implications of autophagy. Wang, A, Cefis, M, Sedraoui, S, Franco, A, Mayaki, D, Broering, F, Huck, L, Sandri, M, Gouspillou, G, Hussain, S, & Leduc-Gaudet, JP.
  97. Integration of a best practice advisory for myotonic dystrophy into an electronic healthcare record system - The Ottawa Hospital experience. Zakutney, S, Lochmuller, H, Warman-Chardon, J, Dalton, A, Vafaei, M, Dimillo, M, Tkach, P, Maisonneuve, C, & Geiger, G
  98. Preferential loading of SMN protein into extracellular vesicles. René, Charlotte, Kothary, Rashmi, Parks, Robin.
  99. A novel recurrent intronic variant in Desmin (DES) causes a milder limb-girdle congenital myasthenic syndrome (LG-CMS) phenotype due to leaky splicing with intron retention. Polavarapu, K, O'Neil, D, Spendiff, S, Thompson, R, Nandeesh, B, Vengalil, S, Matalonga, L, Töpf, A, Laurie, S, Solve-RD DITF-EURO-NMD, SNV-indel WG, Nalini, A, & Lochmüller, H
  100. Myogenic regulatory factor Myf5 governs satellite cell fate during adult skeletal muscle regeneration. Lofaro, S, Hekmatnejad, B, & Rudnicki, M
  101. The gut microbiota shows alterations in mdx mice and is affected by glucocorticoids. Gosse, J.T, Aradanas, M,Butcher, J,Ravel-Chapuis, A, Péladeau, C, Lochmüller, H, Stintzi, A & Jasmin, B.J
  102. Exon Skipping and Dystrophin Production with ENTR-601-45, a Novel EEV-Conjugated, Exon 45 Skip Amenable PMO in Preclinical Models of DMD. Girgenrath, M, Hicks, AH, Estrella, NE, Kumar, A, Guan, A, Blake, SL, Cheon, SY, Brennan, CM, Li, X, Pathak, A, Kheirabadi, M, Dougherty, PG, Lian, W, Liu, N, Gao, N, Wang, W, Streeter, S, Stadheim, A, Dhanabal, M, Qian, Z
  103. Characterizing a mouse model of in-frame exon 55 deletion Neb related nemaline myopathy. Coulson, Z, Kolb, J, Granzier, H, & Dowling, J
  104. The glucocorticoid receptor acts locally in heart and skeletal muscle to protect against dystrophy and drive drug efficacy. Oliver, T, Nguyen, NY, Tully,CB, McCormack, NM, Sun, CM, Fiorillo, AA, & Heier, CR
  105. Expert Patient Capacity Building in Neuromuscular Disease Research. Gagnon, C, Kagan, C, Lochmüller, H, Maltais, C, Mortenson, P, Niksic, L, Osman, H, Thompson, M, & Selby, K
  106. A single dysfunctional copy of mitochondrial ribosomal protein L54 gene leads to early skeletal muscle aging in male C57BL/6NTac mice. Reid, K, Ammar, T, Nik-Akhtar, A, Perras, B, Vasam, G, Green, AE, Lacoste, B, Renaud, J-M, Standen, E, & Menzies, KM
  107. The role of pathological miRNAs in Duchenne and Becker Muscular Dystrophy. Nikki M. McCormack, Kelsey A. Calabrese, Kian M. Sun, Christopher B. Tully, Christopher R. Heier, Alyson A. Fiorillo
  108. The Neuromuscular Disease Network for Canada (NMD4C): An interdisciplinary national collaboration to tackle unmet needs for NMD research and care. Beattie, E, Amin, R, Brais B, Campbell, C, Warman-Chardon, J, Davis, J, Dowling, J, Gagnon, C, Gonorazky, H, Karamchandani, J, Korngut, L, Kothary, R, Lintern, S, McMillan, H, Oskoui, M, Osman, H, Selby, K, Worsfold, N, & Lochmüller, H
  109. Long-term volitional exercise improves muscle function and mitochondrial health in the D2-mdx model of Duchenne muscular dystrophy. Mattina, SR, Ng, SY, Mikhail, AI, Rebalka, IA, Hawke, TJ, & Ljubicic, V
  110. The neurotrophic factor AMP-activated protein kinase regulates the maintenance and remodelling of the neuromuscular junction. Ng, SY, Mikhail, AI, Mattina, SR, Mohammed, SA, Khan, SK, Desjardins, EM, Lim, C, Phillips, SM, Steinberg, GR, & Ljubicic, V
  111. CRISPR-mediated correction of small duplications/deletions in DMD using an engineered Cas9. Marks, R, Rok, M, Ivakine, E, & Cohn, R
  112. Exosome inhibition ameliorates systemic inflammation and leads to functional improvements in mdx mice. Sun, CM, McCormack, NM, Heier, CR & Fiorillo, AA
  113. Inhibition of histone deacetylase 6 (HDAC6) reverses disease-related phenotypes in iPSC-derived models of amyotrophic lateral sclerosis (ALS). Van Den Bosch, L.
  114. Quantitative muscle MRI as a biomarker of OPMD progression in a cross-sectional study. Meier-Ross, K, Sampaio, M, Melkus, G, Smith, IC, Chakraborty, S, & Warman-Chardon, J
  115. Poly-ADP-ribosylation (PARylation) regulates muscle regeneration and maintains muscle function in models of Duchenne Muscular Dystrophy. Green, A.E., Nwadjo, K., Perras, B., Pandey, D., Collao, N., Cairns, G., Larionov, N., De Lisio, M., Burelle, Y., & Menzies, K.J.
  116. Treatabolome DB: linking treatments for rare diseases to genes and variants. Thompson, R, Corvo, A, Atalaia, A, Hernandez-Ferrer, C, Matalonga, L, Piscia, D, Bonne, G, Beltran, S, & Lochmüller, H
  117. Monitoring the Regulation of Mitophagy in Skeletal Muscles Under Normal and Pathological Conditions. Sami Sedraoui, Jean-Philippe Leduc-Gaudet, Alaa Moamer, Laurent Huck, Dominique Mayaki, Feng Liang, Basil Petrof & Sabah NA Hussain
  118. Transcriptome analysis from muscle biopsy tissues in late-onset myopathies identifies potential biomarkers correlating to muscle pathology. Joel MM, Pontifex CS, Martens K, Chhibber S, de Koning APJ, & Pfeffer G
  119. The Effects of CCAAT/enhancer-binding protein β (C/EBPβ) Expression in the Context of Cancer Cachexia. Syed, Ayesha, Nadine Wiper-Bergeron
  120. Long-Term Safety, Tolerability, and Efficacy of Efgartigimod in Patients With Generalized Myasthenia Gravis: Concluding Analyses From the ADAPT+ Study. Kaprielian, R, Genge, A, Pasnoor, M, Bril, V, Karam, C, Peric, S, De Bleecker, JL, Murai, H, Meisel, A, Beydoun, S, Vu, T, Ulrichts, P, Van Hoorick, B, T’joen, C, Utsugisawa, K, Verschuuren, J, Mantegazza, R, Howard Jr, JF, & the ADAPT Study Group
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