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Select item 80613431.

Amelioration of diabetes‐induced inflammation mediated pyroptosis, sarcopenia, and adverse muscle remodelling by bone morphogenetic protein‐7

Chandrakala Aluganti Narasimhulu, Dinender K. Singla

J Cachexia Sarcopenia Muscle. 2021 Apr; 12(2): 403–420. Published online 2021 Jan 18. doi: 10.1002/jcsm.12662

PMCID:: PMC8061343

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Select item 53570822.

The complex of PAMAM-OH dendrimer with Angiotensin (1–7) prevented the disuse-induced skeletal muscle atrophy in mice

Valeria Márquez-Miranda, Johanna Abrigo, Juan Carlos Rivera, Ingrid Araya-Durán, Javier Aravena, Felipe Simon, Nicolás Pacheco, Fernando Danilo González-Nilo, Claudio Cabello-Verrugio

Int J Nanomedicine. 2017; 12: 1985–1999. Published online 2017 Mar 13. doi: 10.2147/IJN.S125521

PMCID:: PMC5357082

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Select item 34211243.

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors

Eur J Hum Genet. 2012 Sep; 20(9): 984–985. Published online 2012 Mar 7. doi: 10.1038/ejhg.2012.39

PMCID:: PMC3421124

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Select item 83925934.

UBE2L3, a Partner of MuRF1/TRIM63, Is Involved in the Degradation of Myofibrillar Actin and Myosin

Dulce Peris-Moreno, Mélodie Malige, Agnès Claustre, Andrea Armani, Cécile Coudy-Gandilhon, Christiane Deval, Daniel Béchet, Pierre Fafournoux, Marco Sandri, Lydie Combaret, Daniel Taillandier, Cécile Polge

Cells. 2021 Aug; 10(8): 1974. Published online 2021 Aug 3. doi: 10.3390/cells10081974

PMCID:: PMC8392593

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Select item 79377665.

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

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Select item 78695156.

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Fang-Yuan Qian, Yu-Dong Guo, Juan Zu, Jin-Hua Zhang, Yi-Ming Zheng, Idriss Ali Abdoulaye, Zhao-Hui Pan, Chun-Ming Xie, Han-Chao Gao, Zhi-Jun Zhang

Acta Neuropathol Commun. 2021; 9: 23. Published online 2021 Feb 8. doi: 10.1186/s40478-020-01046-w

PMCID:: PMC7869515

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Select item 78641227.

Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy

Zoë J. Williams, Deborah Velez-Irizarry, Jessica L. Petersen, Julien Ochala, Carrie J. Finno, Stephanie J. Valberg

Equine Vet J. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: Equine Vet J. 2021 Mar; 53(2): 306–315. Published online 2020 Jun 25. doi: 10.1111/evj.13286

PMCID:: PMC7864122

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Select item 76502808.

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil, Julian Uszkoreit, Andreas Unger, Gregor Kirfel, Peter F. M. van der Ven, Katrin Marcus, Wolfgang A. Linke, Christoph S. Clemen, Rolf Schröder, Dieter O. Fürst

Acta Neuropathol Commun. 2020; 8: 154. Published online 2020 Sep 4. doi: 10.1186/s40478-020-01001-9

PMCID:: PMC7650280

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Select item 75541049.

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

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Select item 735784510.

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin

Norman R. Watts, Xiaolei Zhuang, Joshua D. Kaufman, Ira W. Palmer, Altaira D. Dearborn, Stephen Coscia, Yotam Blech-Hermoni, Caterina Alfano, Annalisa Pastore, Ami Mankodi, Paul T. Wingfield

Biochemistry. Author manuscript; available in PMC 2020 Jul 13.

Published in final edited form as: Biochemistry. 2017 Apr 11; 56(14): 2061–2070. Published online 2017 Apr 3. doi: 10.1021/acs.biochem.7b00067

PMCID:: PMC7357845

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Select item 677746311.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Lisa G. Riley, Leigh B. Waddell, Roula Ghaoui, Frances J. Evesson, Beryl B. Cummings, Samantha J. Bryen, Himanshu Joshi, Min-Xia Wang, Susan Brammah, Leonard Kritharides, Alastair Corbett, Daniel G. MacArthur, Sandra T. Cooper

Eur J Hum Genet. 2019 Aug; 27(8): 1267–1273. Published online 2019 Apr 25. doi: 10.1038/s41431-019-0393-6

PMCID:: PMC6777463

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Select item 598559312.

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

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Select item 483369613.

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

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Select item 435868214.

Statin myalgia is not associated with reduced muscle strength, mass or protein turnover in older male volunteers, but is allied with a slowing of time to peak power output, insulin resistance and differential muscle mRNA expression

Joanne E. Mallinson, Kanagaraj Marimuthu, Andrew Murton, Anna Selby, Kenneth Smith, Dumitru Constantin‐Teodosiu, Michael J. Rennie, Paul L. Greenhaff

J Physiol. 2015 Mar 1; 593(5): 1239–1257. Published online 2015 Jan 26. doi: 10.1113/jphysiol.2014.285577

PMCID:: PMC4358682

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Select item 424020115.

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients

Yetrib Hathout, Ramya L. Marathi, Sree Rayavarapu, Aiping Zhang, Kristy J. Brown, Haeri Seol, Heather Gordish-Dressman, Sebahattin Cirak, Luca Bello, Kanneboyina Nagaraju, Terry Partridge, Eric P. Hoffman, Shin'ichi Takeda, Jean K. Mah, Erik Henricson, Craig McDonald

Hum Mol Genet. 2014 Dec 15; 23(24): 6458–6469. Published online 2014 Jul 15. doi: 10.1093/hmg/ddu366

PMCID:: PMC4240201

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Select item 383647716.

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

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Select item 333531617.

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

Pankaj B. Agrawal, Mugdha Joshi, Talia Savic, Zoe Chen, Alan H. Beggs

Hum Mol Genet. 2012 May 15; 21(10): 2341–2356. Published online 2012 Feb 17. doi: 10.1093/hmg/dds053

PMCID:: PMC3335316

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Select item 311334618.

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

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Select item 263962819.

Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy

Duygu Selcen, Francesco Muntoni, Barbara K. Burton, Elena Pegoraro MD, Caroline Sewry, Anna V. Bite, Andrew G. Engel

Ann Neurol. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 83–89. doi: 10.1002/ana.21553

PMCID:: PMC2639628

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Select item 924062220.

Biochemical and Physicochemical Changes in Spaghetti Meat During Refrigerated Storage of Chicken Breast

Giulia Tasoniero, Hong Zhuang, Brian Bowker

Front Physiol. 2022; 13: 894544. Published online 2022 Jun 15. doi: 10.3389/fphys.2022.894544

PMCID:: PMC9240622

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