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Select item 110915591.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-François Desaphy

J Neuromuscul Dis. 2024; 11(3): 725–734. Prepublished online 2024 Mar 1. Published online 2024 Apr 30. doi: 10.3233/JND-230134

PMCID:: PMC11091559

Article PDF–1.2M

Select item 108367052.

Left ventricle function and post-transcriptional events with exercise training in pigs

Stephanie L. Samani, Shayne C. Barlow, Lisa A. Freeburg, Traci L. Jones, Marlee Poole, Mark A. Sarzynski, Michael R. Zile, Tarek Shazly, Francis G. Spinale

PLoS One. 2024; 19(2): e0292243. Published online 2024 Feb 2. doi: 10.1371/journal.pone.0292243

PMCID:: PMC10836705

Article PDF–1.0M

Select item 106346523.

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype

Vesa Periviita, Johanna Palmio, Manu Jokela, Paivi Hartikainen, Anna Vihola, Tuomas Rauramaa, Bjarne Udd

Neurology. 2023 Oct 31; 101(18): e1779–e1786. doi: 10.1212/WNL.0000000000207639

PMCID:: PMC10634652

Article PDF–519K

Select item 96044404.

Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca²⁺-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle

Eylem Emek Akyürek, Francesca Busato, Leonardo Murgiano, Elisa Bianchini, Marcello Carotti, Dorianna Sandonà, Cord Drögemüller, Arcangelo Gentile, Roberta Sacchetto

Int J Mol Sci. 2022 Oct; 23(20): 12364. Published online 2022 Oct 15. doi: 10.3390/ijms232012364

PMCID:: PMC9604440

Article PDF–2.2M

Select item 93087275.

Non-Dystrophic Myotonia: 2-year clinical and patient reported outcomes

Timothy R. Fullam, Swathy Chandrashekhar, Constantine Farmakidis, Omar Jawdat, Mamatha Pasnoor, Mazen M. Dimachkie, Jeffrey M. Statland, CINCH Consortium

Muscle Nerve. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Muscle Nerve. 2022 Aug; 66(2): 148–158. Published online 2022 Jun 16. doi: 10.1002/mus.27649

PMCID:: PMC9308727

Article PDF–660K

Select item 88030776.

Inhibiting cardiac myeloperoxidase alleviates the relaxation defect in hypertrophic cardiomyocytes

Chrishan J A Ramachandra, Myu Mai Ja Kp, Jasper Chua, Sauri Hernandez-Resendiz, Elisa A Liehn, Ralph Knöll, Li-Ming Gan, Erik Michaëlsson, Malin K B Jonsson, Katarina Ryden-Markinhuhta, Ratan V Bhat, Regina Fritsche-Danielson, Ying-Hsi Lin, Sakthivel Sadayappan, Hak Chiaw Tang, Philip Wong, Winston Shim, Derek J Hausenloy

Cardiovasc Res. 2022 Feb; 118(2): 517–530. Published online 2021 Mar 11. doi: 10.1093/cvr/cvab077

Correction in:: Cardiovasc Res. 2022 Apr; 118(5): 1375.

PMCID:: PMC8803077

Article PDF–2.2M

Select item 86180217.

Joana G. P. Jacinto, Irene M. Häfliger, Eylem Emek Akyürek, Roberta Sacchetto, Cinzia Benazzi, Arcangelo Gentile, Cord Drögemüller

Genes (Basel) 2021 Nov; 12(11): 1792. Published online 2021 Nov 12. doi: 10.3390/genes12111792

PMCID:: PMC8618021

Article PDF–3.4M

Select item 85379178.

Increased Expression of N2BA Titin Corresponds to More Compliant Myofibrils in Athlete’s Heart

Dalma Kellermayer, Bálint Kiss, Hedvig Tordai, Attila Oláh, Henk L. Granzier, Béla Merkely, Miklós Kellermayer, Tamás Radovits

Int J Mol Sci. 2021 Oct; 22(20): 11110. Published online 2021 Oct 15. doi: 10.3390/ijms222011110

PMCID:: PMC8537917

Article PDF–1.9M

Select item 81573119.

Hindlimb Skeletal Muscle Function and Skeletal Quality and Strength in +/G610C Mice With and Without Weight-Bearing Exercise

Youngjae Jeong, Stephanie M Carleton, Bettina A Gentry, Xiaomei Yao, J Andries Ferreira, Daniel J Salamango, MaryAnn Weis, Arin K Oestreich, Ashlee M Williams, Marcus G McCray, David R Eyre, Marybeth Brown, Yong Wang, Charlotte L Phillips

J Bone Miner Res. Author manuscript; available in PMC 2021 May 27.

Published in final edited form as: J Bone Miner Res. 2015 Oct; 30(10): 1874–1886. Published online 2015 May 14. doi: 10.1002/jbmr.2518

PMCID:: PMC8157311

Article PDF–968K

Select item 798874110.

The right ventricular transcriptome signature in Ossabaw swine with cardiometabolic heart failure: implications for the coronary vasculature

Shannon C. Kelly, Christoph D. Rau, An Ouyang, Pamela K. Thorne, T. Dylan Olver, Jenna C. Edwards, Timothy L. Domeier, Jaume Padilla, Laurel A. Grisanti, Bradley S. Fleenor, Yibin Wang, R. Scott Rector, Craig A. Emter

Physiol Genomics. 2021 Mar 1; 53(3): 99–115. Published online 2021 Jan 25. doi: 10.1152/physiolgenomics.00093.2020

PMCID:: PMC7988741

Article

Select item 788708711.

Mineralocorticoid Receptor in Smooth Muscle Contributes to Pressure Overload-Induced Heart Failure

Seung Kyum Kim, Lauren A. Biwer, M. Elizabeth Moss, Joshua J. Man, Mark J. Aronovitz, Gregory L. Martin, Francisco J. Carrillo-Salinas, Ane M. Salvador, Pilar Alcaide, Iris Z. Jaffe

Circ Heart Fail. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Circ Heart Fail. 2021 Feb; 14(2): e007279. Published online 2021 Feb 1. doi: 10.1161/CIRCHEARTFAILURE.120.007279

PMCID:: PMC7887087

Article PDF–1.1M

Select item 778935712.

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D

James R. Mickelson, Katie M. Minor, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, Amanda Ciavarella, Lydia E. Hambrook, Karen M. Brenner, Sarah E. Helmond, Stanley L. Marks, G. Diane Shelton

Skelet Muscle. 2021; 11: 2. Published online 2021 Jan 7. doi: 10.1186/s13395-020-00257-y

PMCID:: PMC7789357

Article PDF–1.2M

Select item 752679013.

Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of laminin-α2 related congenital muscular dystrophy

Pamela Barraza-Flores, Katherine E Bukovec, Marisela Dagda, Brandon W Conner, Ariany Oliveira-Santos, Robert W Grange, Dean J Burkin

Hum Mol Genet. 2020 Aug 3; 29(13): 2162–2170. Published online 2020 May 29. doi: 10.1093/hmg/ddaa104

PMCID:: PMC7526790

Article PDF–1.1M

Select item 700951214.

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Joery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, Erik J Kamsteeg, Corrie E Erasmus, Savine Vicart, Anthony Behin, Guillaume Bassez, Armelle Magot, Yann Péréon, Barbara W Brandom, Valeria Guglielmi, Gaetano Vattemi, Frédéric Chevessier, Jean Mathieu, Jérôme Franques, Karen Suetterlin, Michael G Hanna, Lucie Guyant-Marechal, Marc M Snoeck, Mark E Roberts, Thierry Kuntzer, Roberto Fernandez-Torron, Amaia Martínez-Arroyo, Juergen Seeger, Benno Kusters, Susan Treves, Baziel G van Engelen, Bruno Eymard, Nicol C Voermans, Damien Sternberg

Brain. 2020 Feb; 143(2): 452–466. Published online 2020 Feb 8. doi: 10.1093/brain/awz410

PMCID:: PMC7009512

Article PDF–492K

Select item 697941315.

Paradoxical pseudomyotonia in English Springer and Cocker Spaniels

Kimberley Stee, Mario Van Poucke, Luc Peelman, Mark Lowrie

J Vet Intern Med. 2020 Jan-Feb; 34(1): 253–257. Published online 2019 Nov 14. doi: 10.1111/jvim.15660

PMCID:: PMC6979413

Article PDF–333K

Select item 688965716.

COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes

Eri Miyamoto-Mikami, Naokazu Miyamoto, Hiroshi Kumagai, Kosuke Hirata, Naoki Kikuchi, Hirofumi Zempo, Noriko Kimura, Nobuhiro Kamiya, Hiroaki Kanehisa, Hisashi Naito, Noriyuki Fuku

BMC Med Genet. 2019; 20: 192. Published online 2019 Dec 2. doi: 10.1186/s12881-019-0928-2

PMCID:: PMC6889657

Article PDF–711K

Select item 652708217.

Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review

Shan Huang, Wei Zhang, Xueli Chang, Junhong Guo

Channels (Austin) 2019; 13(1): 110–119. Published online 2019 Apr 1. doi: 10.1080/19336950.2019.1600967

PMCID:: PMC6527082

Article PDF–1.3M

Select item 639741018.

Isometric resistance training increases strength and alters histopathology of dystrophin-deficient mouse skeletal muscle

Angus Lindsay, Alexie A. Larson, Mayank Verma, James M. Ervasti, Dawn A. Lowe

J Appl Physiol (1985) 2019 Feb 1; 126(2): 363–375. Published online 2018 Dec 20. doi: 10.1152/japplphysiol.00948.2018

PMCID:: PMC6397410

Article

Select item 589923119.

TRIM63 (MuRF-1) gene polymorphism is associated with biomarkers of exercise-induced muscle damage

P. Baumert, G-REX Consortium,, M. J. Lake, B. Drust, C. E. Stewart, R. M. Erskine

Physiol Genomics. 2018 Mar 1; 50(3): 142–143. Published online 2017 Dec 6. doi: 10.1152/physiolgenomics.00103.2017

PMCID:: PMC5899231

Article

Select item 584354520.

SMOOTH MUSCLE CELL MINERALOCORTICOID RECEPTOR AS A MEDIATOR OF CARDIOVASCULAR STIFFNESS WITH AGING

Seung Kyum Kim, Amy T. McCurley, Jennifer J. DuPont, Mark Aronovitz, M. Elizabeth Moss, Isaac E. Stillman, S. Ananth Karumanchi, Demetra D. Christou, Iris Z. Jaffe

Hypertension. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Hypertension. 2018 Apr; 71(4): 609–621. Published online 2018 Feb 20. doi: 10.1161/HYPERTENSIONAHA.117.10437

PMCID:: PMC5843545

Article PDF–868K

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