PMC Articles for MedGen (Select 414119) - PMC

Links from MedGen

Items: 1 to 20 of 61

<< First< Prev

Page of 4

Select item 63370241.

Proteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and altered cysteine metabolic pathways

Stephanie J. Valberg, Sudeep Perumbakkam, Erica C. McKenzie, Carrie J. Finno

Physiol Genomics. 2018 Dec 1; 50(12): 1036–1050. Published online 2018 Oct 5. doi: 10.1152/physiolgenomics.00044.2018

PMCID:: PMC6337024

Article PubReader Cite

Select item 87440132.

Gaia Scarpini, Maria Lucia Valentino, Melania Giannotta, Luca Ragni, Annalaura Torella, Marta Columbaro, Vincenzo Nigro, Antonella Pini

Acta Myol. 2021 Dec; 40(4): 177–183. Published online 2021 Dec 31. doi: 10.36185/2532-1900-061

PMCID:: PMC8744013

Article PubReader PDF–359K Cite

Select item 95305163.

Sphingomyelinase activity promotes atrophy and attenuates force in human muscle fibres and is elevated in heart failure patients

Karl Olsson, Arthur J. Cheng, Mamdoh Al‐Ameri, Nicolas Tardif, Michael Melin, Olav Rooyackers, Johanna T. Lanner, Håkan Westerblad, Thomas Gustafsson, Joseph D. Bruton, Eric Rullman

J Cachexia Sarcopenia Muscle. 2022 Oct; 13(5): 2551–2561. Published online 2022 Jul 18. doi: 10.1002/jcsm.13029

PMCID:: PMC9530516

Article PubReader PDF–16M Cite

Select item 93653874.

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

Nozomu Yoshioka, Masayuki Kurose, Masato Yano, Dang Minh Tran, Shujiro Okuda, Yukiko Mori-Ochiai, Masao Horie, Toshihiro Nagai, Ichizo Nishino, Shinsuke Shibata, Hirohide Takebayashi

eLife. 2022; 11: e78419. Published online 2022 Aug 9. doi: 10.7554/eLife.78419

PMCID:: PMC9365387

Article PubReader PDF–21M Cite

Select item 88651565.

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

Kaiyan Jiang, Yilei Zheng, Jing Lin, Xiaorong Wu, Yanyan Yu, Min Zhu, Xin Fang, Meihong Zhou, Xiaobing Li, Daojun Hong

Brain Behav. 2022 Feb; 12(2): e2469. Published online 2022 Jan 3. doi: 10.1002/brb3.2469

PMCID:: PMC8865156

Article PubReader PDF–2.0M Cite

Select item 79377666.

Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis

Stephanie J. Valberg, Carrie J. Finno, Marisa L. Henry, Melissa Schott, Deborah Velez‐Irizarry, Sichong Peng, Erica C. McKenzie, Jessica L. Petersen

Equine Vet J. 2021 Jul; 53(4): 690–700. Published online 2020 Oct 29. doi: 10.1111/evj.13345

PMCID:: PMC7937766

Article PubReader PDF–476K Cite

Select item 75541047.

A novel homozygous KY variant causing a complex neurological disorder

Beenish Arif, Arisha Rasheed, Kishore R Kumar, Amara Fatima, Ghazanfar Abbas, Elizabeth Wohler, Nara Sobriera, Katja Lohmann, Sadaf Naz, Baylor-Hopkins Center for Mendelian Genomics

Eur J Med Genet. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Eur J Med Genet. 2020 Nov; 63(11): 104031. Published online 2020 Aug 18. doi: 10.1016/j.ejmg.2020.104031

PMCID:: PMC7554104

Article PubReader PDF–484K Cite

Select item 71847018.

Expression of MuRF1 or MuRF2 is essential for the induction of skeletal muscle atrophy and dysfunction in a murine pulmonary hypertension model

Thanh Nguyen, T. Scott Bowen, Antje Augstein, Antje Schauer, Alexander Gasch, Axel Linke, Siegfried Labeit, Volker Adams

Skelet Muscle. 2020; 10: 12. Published online 2020 Apr 27. doi: 10.1186/s13395-020-00229-2

PMCID:: PMC7184701

Article PubReader PDF–1.1M Cite

Select item 61211929.

TNNT1 nemaline myopathy: natural history and therapeutic frontier

Michael D Fox, Vincent J Carson, Han-Zhong Feng, Michael W Lawlor, John T Gray, Karlla W Brigatti, J -P Jin, Kevin A Strauss

Hum Mol Genet. 2018 Sep 15; 27(18): 3272–3282. Published online 2018 Jun 20. doi: 10.1093/hmg/ddy233

PMCID:: PMC6121192

Article PubReader PDF–1.3M Cite

Select item 556715210.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk

Eur J Hum Genet. 2017 Aug; 25(8): 966–972. Published online 2017 May 10. doi: 10.1038/ejhg.2017.85

PMCID:: PMC5567152

Article PubReader PDF–1.1M Cite

Select item 506637011.

Mitochondrial dysfunction in myofibrillar myopathy

Amy E. Vincent, John P. Grady, Mariana C. Rocha, Charlotte L. Alston, Karolina A. Rygiel, Rita Barresi, Robert W. Taylor, Doug M. Turnbull

Neuromuscul Disord. 2016 Oct; 26(10): 691–701. doi: 10.1016/j.nmd.2016.08.004

PMCID:: PMC5066370

Article PubReader Cite

Select item 483369612.

Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis

S. J. VALBERG, E. C. McKENZIE, L. V. EYRICH, J. SHIVERS, N. E. BARNES, C. J. FINNO

Equine Vet J. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Equine Vet J. 2016 Sep; 48(5): 548–556. Published online 2015 Sep 7. doi: 10.1111/evj.12493

PMCID:: PMC4833696

Article PubReader PDF–2.6M Cite

Select item 403636613.

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Xiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, Rachel Ohman, Soojay Banerjee, Katherine Gribble, Joshua D. Kaufman, Paul T. Wingfield, Robert C. Griggs, Kenneth H. Fischbeck, Ami Mankodi

J Biol Chem. 2014 May 9; 289(19): 13615–13626. Published online 2014 Mar 25. doi: 10.1074/jbc.M114.550418

PMCID:: PMC4036366

Article PubReader PDF–5.2M Cite

Select item 383647714.

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

Steven Marston, Massimiliano Memo, Andrew Messer, Maria Papadaki, Kristen Nowak, Elyshia McNamara, Royston Ong, Mohammed El-Mezgueldi, Xiaochuan Li, William Lehman

Hum Mol Genet. 2013 Dec 15; 22(24): 4978–4987. Published online 2013 Jul 25. doi: 10.1093/hmg/ddt345

PMCID:: PMC3836477

Article PubReader PDF–839K Cite

Select item 363762515.

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes

Kumpei Tanisawa, Eri Mikami, Noriyuki Fuku, Yoko Honda, Shuji Honda, Ikuro Ohsawa, Masafumi Ito, Shogo Endo, Kunio Ihara, Kinji Ohno, Yuki Kishimoto, Akihito Ishigami, Naoki Maruyama, Motoji Sawabe, Hiroyoshi Iseki, Yasushi Okazaki, Sanae Hasegawa-Ishii, Shiro Takei, Atsuyoshi Shimada, Masanori Hosokawa, Masayuki Mori, Keiichi Higuchi, Toshio Takeda, Mitsuru Higuchi, Masashi Tanaka

BMC Genomics. 2013; 14: 248. Published online 2013 Apr 15. doi: 10.1186/1471-2164-14-248

PMCID:: PMC3637625

Article PubReader PDF–1.5M Cite

Select item 311334616.

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie Tay, Peter Hackman, Gianina Ravenscroft, Catriona McLean, Paul Kennedy, Alina Steinbach, Wiebke Schöffler, Peter F.M. van der Ven, Dieter O. Fürst, Jaeguen Song, Kristina Djinović-Carugo, Sini Penttilä, Olayinka Raheem, Katrina Reardon, Alessandro Malandrini, Simona Gambelli, Marcello Villanova, Kristen J. Nowak, David R. Williams, John E. Landers, Robert H. Brown, Jr., Bjarne Udd, Nigel G. Laing

Am J Hum Genet. 2011 Jun 10; 88(6): 729–740. doi: 10.1016/j.ajhg.2011.04.021

PMCID:: PMC3113346

Article PubReader PDF–1.1M Cite

Select item 889702917.

Daily protein-polyphenol ingestion increases daily myofibrillar protein synthesis rates and promotes early muscle functional gains during resistance training

George F. Pavis, Tom S. O. Jameson, Jamie R. Blackwell, Jonathan Fulford, Doaa R. Abdelrahman, Andrew J. Murton, Nima Alamdari, Catherine R. Mikus, Benjamin T. Wall, Francis B. Stephens

Am J Physiol Endocrinol Metab. 2022 Mar 1; 322(3): E231–E249. Published online 2022 Jan 17. doi: 10.1152/ajpendo.00328.2021

Correction in:: Am J Physiol Endocrinol Metab. 2022 Jul 1; 323(1): E122.

PMCID:: PMC8897029

Article PubReader Cite

Select item 871808118.

Determining the contributions of protein synthesis and breakdown to muscle atrophy requires non‐steady‐state equations

Kamil A. Kobak, Marcus M. Lawrence, Gavin Pharaoh, Agnieszka K. Borowik, Frederick F. Peelor, III, Patrick D. Shipman, Timothy M. Griffin, Holly Van Remmen, Benjamin F. Miller

J Cachexia Sarcopenia Muscle. 2021 Dec; 12(6): 1764–1775. Published online 2021 Aug 21. doi: 10.1002/jcsm.12772

PMCID:: PMC8718081

Article PubReader PDF–7.8M Cite

Select item 820867619.

Reducing NF-κB Signaling Nutritionally is Associated with Expedited Recovery of Skeletal Muscle Function After Damage

Tom S O Jameson, George F Pavis, Marlou L Dirks, Benjamin P Lee, Doaa R Abdelrahman, Andrew J Murton, Craig Porter, Nima Alamdari, Catherine R Mikus, Benjamin T Wall, Francis B Stephens

J Clin Endocrinol Metab. 2021 Jul; 106(7): 2057–2076. Published online 2021 Feb 26. doi: 10.1210/clinem/dgab106

PMCID:: PMC8208676

Article PubReader Cite

Select item 806137820.

Impact of prolonged sepsis on neural and muscular components of muscle contractions in a mouse model

Chloë Goossens, Ruben Weckx, Sarah Derde, Lawrence Van Helleputte, Dominik Schneidereit, Michael Haug, Barbara Reischl, Oliver Friedrich, Ludo Van Den Bosch, Greet Van den Berghe, Lies Langouche

J Cachexia Sarcopenia Muscle. 2021 Apr; 12(2): 443–455. Published online 2021 Jan 19. doi: 10.1002/jcsm.12668

PMCID:: PMC8061378

Article PubReader PDF–9.1M Cite

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 61

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity