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Select item 120606361.

Fiber Type‐Specific Proteomic Alterations in R349P Desminopathy Mice

Britta Eggers, Karin Schork, Michael Turewicz, Katalin Barkovits, Martin Eisenacher, Rolf Schröder, Christoph Stephan Clemen, Katrin Marcus

Muscle Nerve. 2025 Jun; 71(6): 1113–1121. Published online 2025 Mar 3. doi: 10.1002/mus.28379

PMCID:: PMC12060636

Article PDF–2.3M

Select item 108630032.

Personalized allele-specific CRISPR-Cas9 strategies for myofibrillar myopathy 6

Jun Wan Shin, Kyung-Hee Kim, Yukyeong Lee, Doo Eun Choi, Jong-Min Lee

Version 1. medRxiv. Preprint. 2024 Feb 4. doi: 10.1101/2024.02.03.24302252

PMCID:: PMC10863003

Article PDF–593K

Select item 107892403.

Myofibrillar myopathy hallmarks associated with ZAK deficiency

Amy Stonadge, Aitana V Genzor, Alex Russell, Mohamed F Hamed, Norma Romero, Gareth Evans, Mary Elizabeth Pownall, Simon Bekker-Jensen, Gonzalo Blanco

Hum Mol Genet. 2023 Sep 1; 32(17): 2751–2770. Published online 2023 Jul 10. doi: 10.1093/hmg/ddad113

Correction in:: Hum Mol Genet. 2023 Dec 15; 32(24): 3390.

PMCID:: PMC10789240

Article PDF–3.1M

Select item 87357204.

Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report

Liqiong Zhan, Lan Lv, Xinyuan Chen, Xiang Xu, Jun Ni

Medicine (Baltimore) 2022 Jan 7; 101(1): e28484. Published online 2022 Jan 7. doi: 10.1097/MD.0000000000028484

PMCID:: PMC8735720

Article PDF–593K

Select item 84967205.

Metformin rescues muscle function in BAG3 myofibrillar myopathy models

Avnika A. Ruparelia, Emily A. McKaige, Caitlin Williams, Keith E. Schulze, Margit Fuchs, Viola Oorschot, Emmanuelle Lacene, Mirella Meregalli, Clara Lee, Rita J. Serrano, Emily C. Baxter, Keyne Monro, Yvan Torrente, Georg Ramm, Tanya Stojkovic, Josée N. Lavoie, Robert J. Bryson-Richardson

Autophagy. 2021; 17(9): 2494–2510. Published online 2020 Oct 19. doi: 10.1080/15548627.2020.1833500

PMCID:: PMC8496720

Article PDF–24M

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 PDF–476K

Select item 76502807.

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

Article PDF–16M

Select item 76058988.

Genetic compensation prevents myopathy and heart failure in an in vivo model of Bag3 deficiency

Federica Diofano, Karolina Weinmann, Isabelle Schneider, Kevin D. Thiessen, Wolfgang Rottbauer, Steffen Just

PLoS Genet. 2020 Nov; 16(11): e1009088. Published online 2020 Nov 2. doi: 10.1371/journal.pgen.1009088

PMCID:: PMC7605898

Article PDF–4.3M

Select item 71847019.

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 PDF–1.1M

Select item 612119210.

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 PDF–1.3M

Select item 564049911.

Clinical and histopathological features of myofibrillar myopathy in Warmblood horses

S. J. VALBERG, A. M. NICHOLSON, S. S. LEWIS, R. A. REARDON, C. J. FINNO

Equine Vet J. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Equine Vet J. 2017 Nov; 49(6): 739–745. Published online 2017 Jun 26. doi: 10.1111/evj.12702

PMCID:: PMC5640499

Article PDF–639K

Select item 534564512.

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches

Sabrina Batonnet-Pichon, Anthony Behin, Eva Cabet, Florence Delort, Patrick Vicart, Alain Lilienbaum

J Neuromuscul Dis. 2017; 4(1): 1–15. Published online 2017 Feb 28. doi: 10.3233/JND-160203

PMCID:: PMC5345645

Article PDF–1.4M

Select item 514815013.

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Montse Olivé, Zagaa Odgerel, Amaia Martínez, Juan José Poza, Federico García Bragado, Ramón J. Zabalza, Ivonne Jericó, Laura Gonzalez-Mera, Alexey Shatunov, Hee Suk Lee, Judith Armstrong, Elías Maraví, Maria Ramos Arroyo, Jordi Pascual-Calvet, Carmen Navarro, Carmen Paradas, Mariano Huerta, Fabian Marquez, Eduardo Gutierrez-Rivas, Adolf Pou, Isidre Ferrer, Lev G. Goldfarb

Neuromuscul Disord. Author manuscript; available in PMC 2016 Dec 9.

Published in final edited form as: Neuromuscul Disord. 2011 Aug; 21(8): 533–542. Published online 2011 Jun 14. doi: 10.1016/j.nmd.2011.05.002

PMCID:: PMC5148150

Article PDF–781K

Select item 506637014.

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

Select item 488406315.

NFκB is a central regulator of protein quality control in response to protein aggregation stresses via autophagy modulation

Mathieu Nivon, Loïc Fort, Pascale Muller, Emma Richet, Stéphanie Simon, Baptiste Guey, Maëlenn Fournier, André-Patrick Arrigo, Claudio Hetz, Julie D. Atkin, Carole Kretz-Remy

Mol Biol Cell. 2016 Jun 1; 27(11): 1712–1727. doi: 10.1091/mbc.E15-12-0835

PMCID:: PMC4884063

Article PDF–3.7M

Select item 483369616.

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 PDF–2.6M

Select item 477608917.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per-Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd

Neurology. 2016 Jan 26; 86(4): 391–398. doi: 10.1212/WNL.0000000000002324

Correction in:: Neurology. 2016 Mar 15; 86(11): 1077.

PMCID:: PMC4776089

Article PDF–910K

Select item 474320118.

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Satu Sandell, Sanna Huovinen, Johanna Palmio, Olayinka Raheem, Mikaela Lindfors, Fang Zhao, Hannu Haapasalo, Bjarne Udd

Acta Neuropathol Commun. 2016; 4: 9. Published online 2016 Feb 5. doi: 10.1186/s40478-016-0276-9

PMCID:: PMC4743201

Article PDF–1.9M

Select item 403636619.

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 PDF–5.2M

Select item 323586120.

Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy

G. Vattemi, M. Neri, S. Piffer, P. Vicart, F. Gualandi, M. Marini, V. Guglielmi, M. Filosto, P. Tonin, A. Ferlini, G. Tomelleri

Acta Myol. 2011 Oct; 30(2): 121–126.

PMCID:: PMC3235861

Article PDF–330K

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