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Items: 1 to 20 of 151

1.
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
ArticlePDF–593K
2.
A case report of adolescent myofibrillar myopathy due to a de novo R406W pathogenic variant in desmin with symptoms of “hypertrophic cardiomyopathy”
Hongyan Xiao, Laichun Song, Liang Tao
Heliyon. 2024 Feb 15; 10(3): e25009. Published online 2024 Jan 21. doi: 10.1016/j.heliyon.2024.e25009
PMCID:
PMC10837553
ArticlePDF–1.6M
3.
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
ArticlePDF–3.1M
4.
Anaesthetic management of caesarean section in a patient with myofibrillar myopathy
Diana Carolina Lastra Fernandes, Ana Catarina Fernandes Freitas, Sérgio Zenha, Sara Cristina Cabral Freitas
BMJ Case Rep. 2023; 16(12): e257198. Published online 2023 Dec 1. doi: 10.1136/bcr-2023-257198
PMCID:
PMC10693889
ArticlePDF–223K
5.
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, Julien Buratti, Sophia Xirou, Margarita Chrysanthou-Piterou, George K. Papadimas
Int J Mol Sci. 2023 Jul; 24(13): 11181. Published online 2023 Jul 6. doi: 10.3390/ijms241311181
PMCID:
PMC10342265
ArticlePDF–1.1M
6.
Myofibrillar myopathy: a rare but important differential diagnosis of camptocormia in a patient with Parkinson’s Disease
Jan Niklas Petry-Schmelzer, Angela Abicht, Michael T. Barbe, Gilbert Wunderlich
Neurol Res Pract. 2023; 5: 26. Published online 2023 Jun 8. doi: 10.1186/s42466-023-00250-y
PMCID:
PMC10249326
ArticlePDF–750K
7.
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems
Dominik Sellung, Lorena Heil, Nassam Daya, Frank Jacobsen, Janine Mertens-Rill, Heidi Zhuge, Kristina Döring, Misagh Piran, Hendrik Milting, Andreas Unger, Wolfgang A. Linke, Rudi Kley, Corinna Preusse, Andreas Roos, Dieter O. Fürst, Peter F. M. van der Ven, Matthias Vorgerd
Cells. 2023 May; 12(9): 1321. Published online 2023 May 5. doi: 10.3390/cells12091321
PMCID:
PMC10177260
ArticlePDF–7.9M
8.
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests
Stephanie J. Valberg, Marisa L. Henry, Keely L. Herrick, Deborah Velez‐Irizarry, Carrie J. Finno, Jessica L. Petersen
Equine Vet J. 2023 Mar; 55(2): 230–238. Published online 2022 Apr 1. doi: 10.1111/evj.13574
PMCID:
PMC10084132
ArticlePDF–472K
9.
Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene
Shan-shan Zhang, Li-niu Gu, Teng Zhang, Lu Xu, Xiang Wei, Su-hong Chen, Su-jie Shi, Da-quan Sun, Shao-hong Zhou, Qian-ye Zhao
Front Pediatr. 2022; 10: 993165. Published online 2023 Jan 16. doi: 10.3389/fped.2022.993165
PMCID:
PMC9884804
ArticlePDF–29M
10.
High parasternal intercostal muscle thickening associated with diaphragm dysfunction in myofibrillar myopathy: A case study
Abdallah Fayssoil, Anthony Behin, Frédéric Lofaso, Gorka Fernandez, Tanya Stojkovic
Respir Med Case Rep. 2023; 41: 101788. Published online 2022 Dec 1. doi: 10.1016/j.rmcr.2022.101788
PMCID:
PMC9720332
ArticlePDF–1.2M
11.
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age
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
ArticlePDF–359K
12.
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
ArticlePDF–593K
13.
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
ArticlePDF–24M
14.
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data
Rudolf Andre Kley, Yvonne Leber, Bertold Schrank, Heidi Zhuge, Zacharias Orfanos, Julius Kostan, Adekunle Onipe, Dominik Sellung, Anne Katrin Güttsches, Britta Eggers, Frank Jacobsen, Wolfram Kress, Katrin Marcus, Kristina Djinovic-Carugo, Peter F.M. van der Ven, Dieter O. Fürst, Matthias Vorgerd
Neurol Genet. 2021 Jun; 7(3): e590. Published online 2021 May 18. doi: 10.1212/NXG.0000000000000590
PMCID:
PMC8237399
ArticlePDF–1.0M
15.
Integrated proteomic and transcriptomic profiling identifies aberrant gene and protein expression in the sarcomere, mitochondrial complex I, and the extracellular matrix in Warmblood horses with myofibrillar myopathy
Zoë J. Williams, Deborah Velez-Irizarry, Keri Gardner, Stephanie J. Valberg
BMC Genomics. 2021; 22: 438. Published online 2021 Jun 11. doi: 10.1186/s12864-021-07758-0
PMCID:
PMC8194174
ArticlePDF–11M
16.
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients
Anna Potulska-Chromik, Maria Jędrzejowska, Monika Gos, Edyta Rosiak, Biruta Kierdaszuk, Aleksandra Maruszak, Andrzej Opuchlik, Cezary Zekanowski, Jakub P. Fichna
J Clin Med. 2021 Mar; 10(5): 914. Published online 2021 Feb 26. doi: 10.3390/jcm10050914
PMCID:
PMC7956316
ArticlePDF–3.4M
17.
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
ArticlePDF–476K
18.
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
ArticlePDF–13M
19.
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
ArticlePDF–1.5M
20.
Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang
Front Neurol. 2020; 11: 636981. Published online 2021 Jan 8. doi: 10.3389/fneur.2020.636981
Corrects:
Front Neurol. 2020; 11: 1014.
PMCID:
PMC7820890
CorrectionPDF–82K

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