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Items: 1 to 20 of 64

1.
Musculoskeletal defects associated with myosin heavy chain‐embryonic loss of function are mediated by the YAP signaling pathway
Anushree Bharadwaj, Jaydeep Sharma, Jagriti Singh, Mahima Kumari, Tanushri Dargar, Bhargab Kalita, Sam J Mathew
EMBO Mol Med. 2023 Sep; 15(9): e17187. Published online 2023 Jul 26. doi: 10.15252/emmm.202217187
PMCID:
PMC10493586
ArticlePDF–4.9M
2.
Tenotomy-induced muscle atrophy is sex-specific and independent of NFκB
Gretchen A Meyer, Stavros Thomopoulos, Yousef Abu-Amer, Karen C Shen
eLife. 2022; 11: e82016. Published online 2022 Dec 12. doi: 10.7554/eLife.82016
PMCID:
PMC9873255
ArticlePDF–14M
3.
Dysregulated Genes, MicroRNAs, Biological Pathways, and Gastrocnemius Muscle Fiber Types Associated With Progression of Peripheral Artery Disease: A Preliminary Analysis
Sunil K. Saini, Daniel Pérez‐Cremades, Henry S. Cheng, Kate Kosmac, Charlotte A Peterson, Lingyu Li, Lu Tian, Gengfu Dong, Kevin K. Wu, Brian Bouverat, Stephanie E. Wohlgemuth, Terence Ryan, Robert L. Sufit, Luigi Ferrucci, Mary M. McDermott, Christiaan Leeuwenburgh, Mark W. Feinberg
J Am Heart Assoc. 2022 Nov 1; 11(21): e023085. Published online 2022 Oct 27. doi: 10.1161/JAHA.121.023085
PMCID:
PMC9673627
ArticlePDF–11M
4.
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing
Yuko Nitahara-Kasahara, Shuji Mizumoto, Yukiko U. Inoue, Shota Saka, Guillermo Posadas-Herrera, Aki Nakamura-Takahashi, Yuki Takahashi, Ayana Hashimoto, Kohei Konishi, Shinji Miyata, Chiaki Masuda, Emi Matsumoto, Yasunobu Maruoka, Takahiro Yoshizawa, Toshiki Tanase, Takayoshi Inoue, Shuhei Yamada, Yoshihiro Nomura, Shin'ichi Takeda, Atsushi Watanabe, Tomoki Kosho, Takashi Okada
Dis Model Mech. 2021 Dec 1; 14(12): dmm048963. Published online 2021 Dec 23. doi: 10.1242/dmm.048963
PMCID:
PMC8713987
Article
5.
LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy
Matthias Christen, Victoria Indzhova, Ling T. Guo, Vidhya Jagannathan, Tosso Leeb, G. Diane Shelton, Josep Brocal
Genes (Basel) 2021 Nov; 12(11): 1823. Published online 2021 Nov 19. doi: 10.3390/genes12111823
PMCID:
PMC8618982
ArticlePDF–1.7M
6.
Development of Nystagmus With the Absence of MYOD Expression in the Extraocular Muscles
Laura L. Johnson, Rachel B. Kueppers, Erin Y. Shen, Jolene C. Rudell, Linda K. McLoon
Invest Ophthalmol Vis Sci. 2021 Oct; 62(13): 3. Published online 2021 Oct 7. doi: 10.1167/iovs.62.13.3
PMCID:
PMC8504190
ArticlePDF–3.5M
7.
Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation
Alec Wright, Arielle Hall, Tara Daly, Tatiana Fontelonga, Sarah Potter, Caitlin Schafer, Andrew Lindsley, Christina Hung, Olaf Bodamer, Emanuela Gussoni
FASEB J. 2021 Nov; 35(11): e21955. Published online 2021 Oct 6. doi: 10.1096/fj.202100823R
PMCID:
PMC8500524
ArticlePDF–1.9M
8.
Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene
Purificacion Gutiérrez Ríos, Arun A. Kalra, Jon D. Wilson, Kurenai Tanji, Hasan O. Akman, Estela Area Gómez, Eric A. Schon, Salvatore DiMauro
Arch Neurol. Author manuscript; available in PMC 2021 Jul 13.
Published in final edited form as: Arch Neurol. 2012 May; 69(5): 657–661. doi: 10.1001/archneurol.2011.2333
PMCID:
PMC8276349
ArticlePDF–1.2M
9.
IDH2 Deficiency Is Critical in Myogenesis and Fatty Acid Metabolism in Mice Skeletal Muscle
Jeong Hoon Pan, Jingsi Tang, Young Jun Kim, Jin Hyup Lee, Eui-Cheol Shin, Jiangchao Zhao, Kee-Hong Kim, Kyung A. Hwang, Yan Huang, Jae Kyeom Kim
Int J Mol Sci. 2020 Aug; 21(16): 5596. Published online 2020 Aug 5. doi: 10.3390/ijms21165596
PMCID:
PMC7460611
ArticlePDF–1.1M
10.
Skeletal muscle transcriptional networks linked to type I myofiber grouping in Parkinson’s disease
Kaleen M. Lavin, Stuart C. Sealfon, Merry-Lynn N. McDonald, Brandon M. Roberts, Katarzyna Wilk, Venugopalan D. Nair, Yongchao Ge, Preeti Lakshman Kumar, Samuel T. Windham, Marcas M. Bamman
J Appl Physiol (1985) 2020 Feb 1; 128(2): 229–240. Published online 2019 Dec 12. doi: 10.1152/japplphysiol.00702.2019
PMCID:
PMC7052589
Article
11.
Structural and Functional Alterations of Neuromuscular Junctions in NCAM-Deficient Mice
Victor F. Rafuse, Luis Polo-Parada, Lynn T. Landmesser
J Neurosci. 2000 Sep 1; 20(17): 6529–6539. doi: 10.1523/JNEUROSCI.20-17-06529.2000
PMCID:
PMC6772958
ArticlePDF–574K
12.
Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice
Eiji Wada, Megumi Kato, Kaori Yamashita, Hiroko Kokuba, Wen-Chen Liang, Gisèle Bonne, Yukiko K. Hayashi
PLoS One. 2019; 14(8): e0221512. Published online 2019 Aug 20. doi: 10.1371/journal.pone.0221512
PMCID:
PMC6701770
ArticlePDF–3.7M
13.
Neuromuscular Development in the Absence of Programmed Cell Death: Phenotypic Alteration of Motoneurons and Muscle
Robert R. Buss, Thomas W. Gould, Jianjun Ma, Sharon Vinsant, David Prevette, Adam Winseck, Kimberly A. Toops, James A. Hammarback, Thomas L. Smith, Ronald W. Oppenheim
J Neurosci. 2006 Dec 27; 26(52): 13413–13427. doi: 10.1523/JNEUROSCI.3528-06.2006
PMCID:
PMC6674711
ArticlePDF–1.1M
14.
Autosomal recessive neuromuscular disorder in a transgenic line of mice
D Kelly, K Chancellor, A Milatovich, U Francke, K Suzuki, B Popko
J Neurosci. 1994 Jan 1; 14(1): 198–207. doi: 10.1523/JNEUROSCI.14-01-00198.1994
PMCID:
PMC6576840
PDF–3.4M
15.
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report
Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama
BMC Neurol. 2019; 19: 125. Published online 2019 Jun 12. doi: 10.1186/s12883-019-1360-0
PMCID:
PMC6560775
ArticlePDF–1.2M
16.
Ablation of phospholamban rescues reperfusion arrhythmias but exacerbates myocardium infarction in hearts with Ca2+/calmodulin kinase II constitutive phosphorylation of ryanodine receptors
Carlos A Valverde, Gabriela Mazzocchi, Mariano N Di Carlo, Alejandro Ciocci Pardo, Nehuen Salas, María Ines Ragone, Juan I Felice, Alejandra Cely-Ortiz, Alicia E Consolini, Enrique Portiansky, Susana Mosca, Evangelia G Kranias, Xander H T Wehrens, Alicia Mattiazzi
Cardiovasc Res. 2019 Mar 1; 115(3): 556–569. Published online 2018 Aug 29. doi: 10.1093/cvr/cvy213
PMCID:
PMC6383052
ArticlePDF–1.2M
17.
Intrinsic mitral valve alterations in hypertrophic cardiomyopathy sarcomere mutation carriers
John D Groarke, Patrycja Z Galazka, Allison L Cirino, Neal K Lakdawala, Jens J Thune, Henning Bundgaard, E John Orav, Robert A Levine, Carolyn Y Ho
Eur Heart J Cardiovasc Imaging. 2018 Oct; 19(10): 1109–1116. Published online 2018 Jul 26. doi: 10.1093/ehjci/jey095
PMCID:
PMC6148328
ArticlePDF–449K
18.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Emily C. Oates, Kristi J. Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, III, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony J. Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo A. Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair J. Corbett, Monique M. Ryan, Gina L. O'Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda A. Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R. Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard I. Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola C. Foulds, Marjorie A. Illingworth, Sian Ellard, Catriona A. McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, Carsten G. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing
Ann Neurol. 2018 Jun; 83(6): 1105–1124. Published online 2018 Jul 27. doi: 10.1002/ana.25241
PMCID:
PMC6105519
ArticlePDF–13M
19.
Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice
Jeong-Ki Kim, Charlotte Caine, Tomoyuki Awano, Ruth Herbst, Umrao R. Monani
Hum Mol Genet. 2017 Jul 1; 26(13): 2377–2385. Published online 2017 Mar 31. doi: 10.1093/hmg/ddx124
PMCID:
PMC6074815
ArticlePDF–927K
20.
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family
Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan, Xue-fan Yu
BMC Neurol. 2018; 18: 79. Published online 2018 Jun 4. doi: 10.1186/s12883-018-1078-4
PMCID:
PMC5985593
ArticlePDF–4.0M

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