PMC Articles for MedGen (Select 735900) - PMC

Links from MedGen

Items: 1 to 20 of 236

<< First< Prev

Page of 12

Select item 68258521.

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel

Mol Genet Genomic Med. 2019 Nov; 7(11): e924. Published online 2019 Sep 5. doi: 10.1002/mgg3.924

PMCID:: PMC6825852

Abstract Article PDF–2.3M

Select item 47454162.

Aerobic Exercise and Pharmacological Therapies for Skeletal Myopathy in Heart Failure: Similarities and Differences

Aline V. Bacurau, Telma F. Cunha, Rodrigo W. Souza, Vanessa A. Voltarelli, Daniele Gabriel-Costa, Patricia C. Brum

Oxid Med Cell Longev. 2016; 2016: 4374671. Published online 2016 Jan 19. doi: 10.1155/2016/4374671

PMCID:: PMC4745416

Abstract Article PDF–1.9M

Select item 48100673.

Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy

Mei Li, Monika Andersson-Lendahl, Thomas Sejersen, Anders Arner

J Gen Physiol. 2016 Apr; 147(4): 309–322. doi: 10.1085/jgp.201511452

PMCID:: PMC4810067

Abstract Article PDF–1.5M

Select item 48732054.

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca²⁺ Release

Maria Cristina D’Adamo, Luigi Sforna, Sergio Visentin, Alessandro Grottesi, llenio Servettini, Luca Guglielmi, Lara Macchioni, Simona Saredi, Maurizio Curcio, Chiara De Nuccio, Sonia Hasan, Lanfranco Corazzi, Fabio Franciolini, Marina Mora, Luigi Catacuzzeno, Mauro Pessia

PLoS One. 2016; 11(5): e0155516. Published online 2016 May 19. doi: 10.1371/journal.pone.0155516

PMCID:: PMC4873205

Abstract Article PDF–2.0M

Select item 48862355.

Application of MicroRNA in Cardiac and Skeletal Muscle Disease Gene Therapy

Zhan-Peng Huang, Ronald L. Neppl, Jr., Da-Zhi Wang

Methods Mol Biol. Author manuscript; available in PMC 2016 May 31.

Published in final edited form as: Methods Mol Biol. 2011; 709: 197–210. doi: 10.1007/978-1-61737-982-6_12

PMCID:: PMC4886235

Abstract Article PDF–902K

Select item 49469136.

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility

Katie A. Mitzelfelt, Pattraranee Limphong, Melinda J. Choi, Frances D. L. Kondrat, Shuping Lai, Kurt D. Kolander, Wai-Meng Kwok, Qiang Dai, Michael N. Grzybowski, Huali Zhang, Graydon M. Taylor, Qiang Lui, Mai T. Thao, Judith A. Hudson, Rita Barresi, Kate Bushby, Heinz Jungbluth, Elizabeth Wraige, Aron M. Geurts, Justin L. P. Benesch, Michael Riedel, Elisabeth S. Christians, Alex C. Minella, Ivor J. Benjamin

J Biol Chem. 2016 Jul 15; 291(29): 14939–14953. Published online 2016 May 19. doi: 10.1074/jbc.M116.730481

PMCID:: PMC4946913

Abstract Article PDF–3.6M

Select item 52264257.

Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease

Bruce M. Damon, Ke Li, Richard D. Dortch, E. Brian Welch, Jane H. Park, Amanda K. W. Buck, Theodore F. Towse, Mark D. Does, Daniel F. Gochberg, Nathan D. Bryant

J Vis Exp. 2016; (118): 52352. Published online 2016 Dec 18. doi: 10.3791/52352

PMCID:: PMC5226425

Abstract Article PDF–1.0M

Select item 53853278.

BGP-15 Protects against Oxaliplatin-Induced Skeletal Myopathy and Mitochondrial Reactive Oxygen Species Production in Mice

James C. Sorensen, Aaron C. Petersen, Cara A. Timpani, Dean G. Campelj, Jordan Cook, Adam J. Trewin, Vanesa Stojanovska, Mathew Stewart, Alan Hayes, Emma Rybalka

Front Pharmacol. 2017; 8: 137. Published online 2017 Apr 10. doi: 10.3389/fphar.2017.00137

PMCID:: PMC5385327

Abstract Article PDF–4.3M

Select item 57063309.

Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2

Wei L. Hsu, Yun L. Ma, Yen C. Liu, Eminy H. Y. Lee

BMC Biol. 2017; 15: 112. Published online 2017 Nov 28. doi: 10.1186/s12915-017-0452-9

PMCID:: PMC5706330

Abstract Article PDF–2.4M

Select item 590240110.

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

Ilona Schirmer, Mareike Dieding, Bärbel Klauke, Andreas Brodehl, Anna Gaertner‐Rommel, Volker Walhorn, Jan Gummert, Uwe Schulz, Lech Paluszkiewicz, Dario Anselmetti, Hendrik Milting

Mol Genet Genomic Med. 2018 Mar; 6(2): 288–293. Published online 2017 Dec 23. doi: 10.1002/mgg3.358

PMCID:: PMC5902401

Abstract Article PDF–3.0M

Select item 458989411.

Cardiac Troponin Testing in Idiopathic Inflammatory Myopathies and Systemic Sclerosis-Spectrum Disorders: Biomarkers to Distinguish between Primary Cardiac Involvement and Low Grade Skeletal Muscle Disease Activity

Michael Hughes, James B Lilleker, Ariane L Herrick, Hector Chinoy

Ann Rheum Dis. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Rheum Dis. 2015 May; 74(5): 795–798. Published online 2015 Mar 2. doi: 10.1136/annrheumdis-2014-206812

PMCID:: PMC4589894

Abstract Article PDF–310K

Select item 777339612.

Defective lysosome reformation during autophagy causes skeletal muscle disease

Meagan J. McGrath, Matthew J. Eramo, Rajendra Gurung, Absorn Sriratana, Stefan M. Gehrig, Gordon S. Lynch, Sonia Raveena Lourdes, Frank Koentgen, Sandra J. Feeney, Michael Lazarou, Catriona A. McLean, Christina A. Mitchell

J Clin Invest. 2021 Jan 4; 131(1): e135124. Published online 2021 Jan 4. doi: 10.1172/JCI135124

PMCID:: PMC7773396

Abstract Article PDF–27M

Select item 780631113.

Skeletal Myopathy as the Initial Manifestation of Light Chain Multiple Myeloma

Mohamed Reda Belkhribchia, Sara Moukhlis, Tarik Bentaoune, Najat Chourkani, Mohamed Zaidani, Mehdi Karkouri

Eur J Case Rep Intern Med. 2020; 7(12): 002095. Published online 2020 Nov 20. doi: 10.12890/2020_002095

PMCID:: PMC7806311

Abstract Article PDF–1.0M

Select item 814323114.

Bidirectional interconversion between PtdIns4P and PtdIns(4,5)P₂ is required for autophagic lysosome reformation and protection from skeletal muscle disease

Matthew J. Eramo, Rajendra Gurung, Christina A. Mitchell, Meagan J. McGrath

Autophagy. 2021; 17(5): 1287–1289. Published online 2021 Apr 20. doi: 10.1080/15548627.2021.1916195

PMCID:: PMC8143231

Abstract Article PDF–500K

Select item 861731115.

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model

William E. Tidyman, Alice F. Goodwin, Yoshiko Maeda, Ophir D. Klein, Katherine A. Rauen

Dis Model Mech. 2022 Feb 1; 15(2): dmm049166. Published online 2021 Nov 19. doi: 10.1242/dmm.049166

PMCID:: PMC8617311

Abstract Article

Select item 874274116.

Skeletal myopathy in a rat model of postmenopausal heart failure with preserved ejection fraction

Rachel C. Kelley, Lauren Betancourt, Andrea M. Noriega, Suzanne C. Brinson, Nuria Curbelo-Bermudez, Dongwoo Hahn, Ravi A. Kumar, Eliza Balazic, Derek R. Muscato, Terence E. Ryan, Robbert J. van der Pijl, Shengyi Shen, Coen A. C. Ottenheijm, Leonardo F. Ferreira

J Appl Physiol (1985) 2022 Jan 1; 132(1): 106–125. Published online 2021 Nov 18. doi: 10.1152/japplphysiol.00170.2021

PMCID:: PMC8742741

Abstract Article

Select item 920244417.

Absence of keratin 19 in mice causes skeletal myopathy with mitochondrial and sarcolemmal reorganization

Michele R. Stone, Andrea O’Neill, Richard M. Lovering, John Strong, Wendy G. Resneck, Patrick W. Reed, Diana M. Toivola, Jeanine A. Ursitti, M. Bishr Omary, Robert J. Bloch

J Cell Sci. Author manuscript; available in PMC 2022 Jun 16.

Published in final edited form as: J Cell Sci. 2007 Nov 15; 120(Pt 22): 3999–4008. Published online 2007 Oct 30. doi: 10.1242/jcs.009241

PMCID:: PMC9202444

Abstract Article PDF–1.8M

Select item 920608018.

TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy

Li Zhang, Felicia Dietsche, Bruno Seitaj, Liliana Rojas-Charry, Nadina Latchman, Dhanendra Tomar, Rob CI Wüst, Alexander Nickel, Katrin BM Frauenknecht, Benedikt Schoser, Sven Schumann, Michael J Schmeisser, Johannes vom Berg, Thorsten Buch, Stefanie Finger, Philip Wenzel, Christoph Maack, John W Elrod, Jan B Parys, Geert Bultynck, Axel Methner

Life Sci Alliance. 2022 Oct; 5(10): e202201478. Published online 2022 Jun 17. doi: 10.26508/lsa.202201478

PMCID:: PMC9206080

Abstract Article PDF–4.3M

Select item 929534519.

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr

Orphanet J Rare Dis. 2022; 17: 279. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02421-7

PMCID:: PMC9295345

Abstract Article PDF–2.3M

Select item 235962520.

Familial restrictive cardiomyopathy with atrioventricular block without skeletal myopathy

Gustavo Iglesias Cubero, Gary Lasa Larraya, J Rodríguez Reguero

Exp Clin Cardiol. 2007 Spring; 12(1): 54–55.

PMCID:: PMC2359625

Abstract Article PDF–136K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 236

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity