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Select item 80733711.

Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

Lorenzo Maggi, Manolis Mavroidis, Stelios Psarras, Yassemi Capetanaki, Giovanna Lattanzi

Int J Mol Sci. 2021 Apr; 22(8): 4256. Published online 2021 Apr 20. doi: 10.3390/ijms22084256

PMCID:: PMC8073371

Abstract Article PDF–3.1M

Select item 107337392.

Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Douglas E Cannie, Petros Syrris, Alexandros Protonotarios, Athanasios Bakalakos, Jean-François Pruny, Raffaello Ditaranto, Cristina Martinez-Veira, Jose M Larrañaga-Moreira, Kristen Medo, Francisco José Bermúdez-Jiménez, Rabah Ben Yaou, France Leturcq, Ainhoa Robles Mezcua, Chiara Marini-Bettolo, Eva Cabrera, Chloe Reuter, Javier Limeres Freire, José F Rodríguez-Palomares, Luisa Mestroni, Matthew R G Taylor, Victoria N Parikh, Euan A Ashley, Roberto Barriales-Villa, Juan Jiménez-Jáimez, Pablo Garcia-Pavia, Philippe Charron, Elena Biagini, José M García Pinilla, John Bourke, Konstantinos Savvatis, Karim Wahbi, Perry M Elliott

Eur Heart J. 2023 Dec 21; 44(48): 5064–5073. Published online 2023 Aug 28. doi: 10.1093/eurheartj/ehad561

PMCID:: PMC10733739

Abstract Article PDF–817K

Select item 107172403.

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation

Eiji Wada, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi

J Physiol Sci. 2023; 73: 27. Published online 2023 Nov 8. doi: 10.1186/s12576-023-00886-0

PMCID:: PMC10717240

Abstract Article PDF–1.5M

Select item 102650994.

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan

Mol Genet Genomic Med. 2023 Jun; 11(6): e2161. Published online 2023 Mar 10. doi: 10.1002/mgg3.2161

PMCID:: PMC10265099

Abstract Article PDF–990K

Select item 101368305.

Drosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases

Sydney G. Walker, Christopher J. Langland, Jill Viles, Laura A. Hecker, Lori L. Wallrath

Cells. 2023 Apr; 12(8): 1142. Published online 2023 Apr 12. doi: 10.3390/cells12081142

PMCID:: PMC10136830

Abstract Article PDF–3.6M

Select item 101187886.

Inflammatory myopathy in the context of an unusual overlapping laminopathy

Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F. Casanueva, David Araújo-Vilar

Arch Endocrinol Metab. 2018 May-Jun; 62(3): 375–382. Published online 2018 May 7. doi: 10.20945/2359-3997000000048

PMCID:: PMC10118788

Abstract Article PDF–522K

Select item 95752197.

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai

BMC Pediatr. 2022; 22: 601. Published online 2022 Oct 17. doi: 10.1186/s12887-022-03662-y

PMCID:: PMC9575219

Abstract Article PDF–1.2M

Select item 85369748.

In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies

Benjamin E. Hinz, Sydney G. Walker, Austin Xiong, Rose A. Gogal, Michael J. Schnieders, Lori L. Wallrath

Int J Mol Sci. 2021 Oct; 22(20): 11226. Published online 2021 Oct 18. doi: 10.3390/ijms222011226

PMCID:: PMC8536974

Abstract Article PDF–5.4M

Select item 84111119.

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Nicolas Vignier, Maria Chatzifrangkeskou, Luca Pinton, Hugo Wioland, Thibaut Marais, Mégane Lemaitre, Caroline Le Dour, Cécile Peccate, Déborah Cardoso, Alain Schmitt, Wei Wu, Maria-Grazia Biferi, Naïra Naouar, Coline Macquart, Maud Beuvin, Valérie Decostre, Gisèle Bonne, Guillaume Romet-Lemonne, Howard J. Worman, Francesco Saverio Tedesco, Antoine Jégou, Antoine Muchir

Cell Rep. 2021 Aug 24; 36(8): 109601. Published online 2021 Aug 24. doi: 10.1016/j.celrep.2021.109601

PMCID:: PMC8411111

Abstract Article

Select item 837620510.

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant

Nivedita Patni, Sarah Hatab, Chao Xing, Zhengyang Zhou, Claudia Quittner, Abhimanyu Garg

J Med Genet. Author manuscript; available in PMC 2021 Aug 19.

Published in final edited form as: J Med Genet. 2020 Jun; 57(6): 422–426. Published online 2019 Dec 19. doi: 10.1136/jmedgenet-2019-106395

PMCID:: PMC8376205

Abstract Article PDF–511K

Select item 809578311.

Myofiber Degeneration in Autosomal Dominant Emery–Dreifuss Muscular Dystrophy (AD‐EDMD) (LGMD1B)

Michel Mittelbronn, Frank Hanisch, Marc Gleichmann, Mechthild Stötter, Rudolf Korinthenberg, Manfred Wehnert, Gisèle Bonne, Sabine Rudnik‐Schöneborn, Antje Bornemann

Brain Pathol. 2006 Oct; 16(4): 266–272. Published online 2006 Nov 15. doi: 10.1111/j.1750-3639.2006.00028.x

PMCID:: PMC8095783

Abstract Article PDF–655K

Select item 808625512.

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

Yanbin Fan, Dandan Tan, Danyu Song, Xu Zhang, Xingzhi Chang, Zhaoxia Wang, Cheng Zhang, Sophelia Hoi-Shan Chan, Qixi Wu, Liwen Wu, Shuang Wang, Hui Yan, Lin Ge, Haipo Yang, Bing Mao, Carsten Bönnemann, Jingying Liu, Suxia Wang, Yun Yuan, Xiru Wu, Hong Zhang, Hui Xiong

J Med Genet. 2021 May; 58(5): 326–333. Published online 2020 Jun 22. doi: 10.1136/jmedgenet-2019-106671

PMCID:: PMC8086255

Abstract Article PDF–797K

Select item 805974513.

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

Jingwen Tao, Jialin Duan, Xiu Pi, Hong Wang, Sheng Li

J Clin Lab Anal. 2021 Apr; 35(4): e23736. Published online 2021 Feb 24. doi: 10.1002/jcla.23736

PMCID:: PMC8059745

Abstract Article PDF–943K

Select item 755020314.

Emery–Dreifuss muscular dystrophy: focal point nuclear envelope

Antoine Muchir, Howard J. Worman

Curr Opin Neurol. Author manuscript; available in PMC 2020 Oct 12.

Published in final edited form as: Curr Opin Neurol. 2019 Oct; 32(5): 728–734. doi: 10.1097/WCO.0000000000000741

PMCID:: PMC7550203

Abstract Article PDF–399K

Select item 750991915.

Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report

Jing Huang, Qing Wan, Yu Zou, Lijie Wang, Yesheng Pan

BMC Cardiovasc Disord. 2020; 20: 423. Published online 2020 Sep 22. doi: 10.1186/s12872-020-01695-8

PMCID:: PMC7509919

Abstract Article PDF–1.7M

Select item 745017616.

Using nuclear envelope mutations to explore age-related skeletal muscle weakness

Edmund Battey, Matthew J. Stroud, Julien Ochala

Clin Sci (Lond) 2020 Aug; 134(16): 2177–2187. Published online 2020 Aug 26. doi: 10.1042/CS20190066

PMCID:: PMC7450176

Abstract Article PDF–1.0M

Select item 730344917.

Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy

Yasuyuki Chiba, Arata Fukushima, Motoki Nakao, Yuta Kobayashi, Takahiro Ishigaki, Taro Tenma, Kiwamu Kamiya, Yasushige Shingu, Tomonori Ooka, Yoshiro Matsui, Toshihisa Anzai

Intern Med. 2020 May 15; 59(10): 1277–1281. Published online 2020 Feb 19. doi: 10.2169/internalmedicine.4113-19

PMCID:: PMC7303449

Abstract Article PDF–1.4M

Select item 715452918.

Emery‐Dreifuss muscular dystrophy

Scott A. Heller, Renata Shih, Raghav Kalra, Peter B. Kang

Muscle Nerve. 2020 Apr; 61(4): 436–448. Published online 2019 Dec 28. doi: 10.1002/mus.26782

PMCID:: PMC7154529

Abstract Article PDF–1.6M

Select item 710293719.

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells

Ashley J. Earle, Tyler J. Kirby, Gregory R. Fedorchak, Philipp Isermann, Jineet Patel, Sushruta Iruvanti, Steven A. Moore, Gisèle Bonne, Lori L. Wallrath, Jan Lammerding

Nat Mater. Author manuscript; available in PMC 2020 Jun 16.

Published in final edited form as: Nat Mater. 2020 Apr; 19(4): 464–473. Published online 2019 Dec 16. doi: 10.1038/s41563-019-0563-5

PMCID:: PMC7102937

Abstract Article PDF–6.2M

Select item 700014020.

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

Cristina Cappelletti, Franco Salerno, Eleonora Canioni, Marina Mora, Renato Mantegazza, Pia Bernasconi, Lorenzo Maggi

Nucleus. 2018; 9(1): 398–409. Published online 2018 Oct 3. doi: 10.1080/19491034.2018.1471947

PMCID:: PMC7000140

Abstract Article PDF–2.3M

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