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Select item 58735521.

Motor neurone disease: a practical update on diagnosis and management

Pamela J Shaw, Clare Wood-Allum

Clin Med (Lond) 2010 Jun; 10(3): 252–258. doi: 10.7861/clinmedicine.10-3-252

PMCID:: PMC5873552

Abstract Article PDF–215K

Select item 83045052.

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

Roberto Silva-Rojas, Anne-Laure Charles, Sarah Djeddi, Bernard Geny, Jocelyn Laporte, Johann Böhm

Cells. 2021 Jul; 10(7): 1730. Published online 2021 Jul 8. doi: 10.3390/cells10071730

PMCID:: PMC8304505

Abstract Article PDF–2.6M

Select item 81738023.

Deficits in the Skeletal Muscle Transcriptome and Mitochondrial Coupling in Progressive Diabetes-Induced CKD Relate to Functional Decline

Daniel C. Bittel, Adam J. Bittel, Arun S. Varadhachary, Terri Pietka, David R. Sinacore

Diabetes. 2021 May; 70(5): 1130–1144. Published online 2021 Feb 1. doi: 10.2337/db20-0688

PMCID:: PMC8173802

Abstract Article PDF–2.6M

Select item 80816034.

Expression and Clinical Significance of miR-146a and Tumor Necrosis Factor Receptor-Associated Factor 6 (TRAF6) in Myasthenia Gravis Patient Serum

Mei Yan, Yue Fu, Hui Rao, Huiling Zhou, Xiaohuang Liang

Biomed Res Int. 2021; 2021: 5573469. Published online 2021 Apr 20. doi: 10.1155/2021/5573469

Retraction in:: Biomed Res Int. 2024; 2024: 9754648.

PMCID:: PMC8081603

Abstract Article

Select item 79502305.

MiR-141-3p promotes mitochondrial dysfunction in ovariectomy-induced sarcopenia via targeting Fkbp5 and Fibin

Hyunjung Lee, Young In Kim, Farida S. Nirmala, Ji-Sun Kim, Hyo-Deok Seo, Tae Youl Ha, Young-Jin Jang, Chang Hwa Jung, Jiyun Ahn

Aging (Albany NY) 2021 Feb 28; 13(4): 4881–4894. Published online 2021 Feb 3. doi: 10.18632/aging.202617

PMCID:: PMC7950230

Abstract Article PDF–1.5M

Select item 78022096.

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Po-Jui Hsu, Horng-Dar Wang, Yung-Che Tseng, Shao-Wei Pan, Bonifasius Putera Sampurna, Yuh-Jyh Jong, Chiou-Hwa Yuh

J Biomed Sci. 2021; 28: 8. Published online 2021 Jan 12. doi: 10.1186/s12929-020-00707-1

PMCID:: PMC7802209

Abstract Article PDF–17M

Select item 77241977.

Calpains play an essential role in mechanical ventilation-induced diaphragmatic weakness and mitochondrial dysfunction

Hayden W. Hyatt, Mustafa Ozdemir, Toshinori Yoshihara, Branden L. Nguyen, Rafael Deminice, Scott K. Powers

Redox Biol. 2021 Jan; 38: 101802. Published online 2020 Nov 25. doi: 10.1016/j.redox.2020.101802

PMCID:: PMC7724197

Abstract Article PDF–3.4M

Select item 72962738.

Caveolin‐3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function

Dinesh S. Shah, Raid B. Nisr, Clare Stretton, Gabriela Krasteva‐Christ, Harinder S. Hundal

J Cachexia Sarcopenia Muscle. 2020 Jun; 11(3): 838–858. Published online 2020 Feb 23. doi: 10.1002/jcsm.12541

PMCID:: PMC7296273

Abstract Article PDF–850K

Select item 69131449.

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy

Laura Schultz-Rogers, Alejandro Ferrer, Nikita R. Dsouza, Michael T. Zimmermann, Benn E. Smith, Eric W. Klee, Radhika Dhamija

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004309. doi: 10.1101/mcs.a004309

PMCID:: PMC6913144

Abstract Article PDF–2.0M

Select item 687983310.

Skeletal myofiber VEGF deficiency leads to mitochondrial, structural, and contractile alterations in mouse diaphragm

Daniel T. Cannon, Lukas Rodewohl, Volker Adams, Ellen C. Breen, T. Scott Bowen

J Appl Physiol (1985) 2019 Nov 1; 127(5): 1360–1369. Published online 2019 Sep 5. doi: 10.1152/japplphysiol.00779.2018

PMCID:: PMC6879833

Abstract Article

Select item 672667411.

Nemaline myopathies: a current view

Caroline A. Sewry, Jenni M. Laitila, Carina Wallgren-Pettersson

J Muscle Res Cell Motil. 2019; 40(2): 111–126. Published online 2019 Jun 21. doi: 10.1007/s10974-019-09519-9

PMCID:: PMC6726674

Abstract Article PDF–1.3M

Select item 635909012.

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases

Paola Faverio, Anna Stainer, Federica De Giacomi, Serena Gasperini, Serena Motta, Francesco Canonico, Federico Pieruzzi, Anna Monzani, Alberto Pesci, Andrea Biondi

Int J Mol Sci. 2019 Jan; 20(2): 327. Published online 2019 Jan 15. doi: 10.3390/ijms20020327

PMCID:: PMC6359090

Abstract Article PDF–1.8M

Select item 635571813.

Induced in vivo knockdown of the Brca1 gene in skeletal muscle results in skeletal muscle weakness

Michael D. Tarpey, Ana P. Valencia, Kathryn C. Jackson, Adam J. Amorese, Nicholas P. Balestrieri, Randall H. Renegar, Stephen J. P. Pratt, Terence E. Ryan, Joseph M. McClung, Richard M. Lovering, Espen E. Spangenburg

J Physiol. 2019 Feb 1; 597(3): 869–887. Published online 2018 Dec 16. doi: 10.1113/JP276863

PMCID:: PMC6355718

Abstract Article PDF–5.8M

Select item 595168714.

Compensatory Plasticity in Diaphragm and Intercostal Muscle Utilization in a Rat Model of ALS

Yasin B. Seven, Nicole L. Nichols, Mia N. Kelly, Orinda R. Hobson, Irawan Satriotomo, Gordon S. Mitchell

Exp Neurol. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Exp Neurol. 2018 Jan; 299(Pt A): 148–156. Published online 2017 Oct 19. doi: 10.1016/j.expneurol.2017.10.015

PMCID:: PMC5951687

Abstract Article PDF–1.0M

Select item 1129174015.

COQ7 defect causes prenatal onset of mitochondrial CoQ₁₀ deficiency with cardiomyopathy and gastrointestinal obstruction

Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea-Calvo, Caterina Garone

Eur J Hum Genet. 2024 Aug; 32(8): 938–946. Published online 2024 May 3. doi: 10.1038/s41431-024-01615-w