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About 190 results

ALLMedicine™ Emery-Dreifuss Muscular Dystrophy Center

Research & Reviews  74 results

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in ...
https://doi.org/10.1016/j.hrthm.2022.04.022
Heart Rhythm; Groh WJ, Bhakta D et. al.

May 3rd, 2022 - This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The doc...

Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle...
https://doi.org/10.1017/S1047951121004674
Cardiology in the Young; Takamizawa K, Kim KS et. al.

Nov 26th, 2021 - Emery-Dreifuss muscular dystrophy is a slowly progressive skeletal muscle and joint disorder associated with cardiac complications. Dilated cardiomyopathy was the initial manifestation of Emery-Dreifuss muscular dystrophy in an 8-year-old girl. De...

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Typ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8373992
Journal of Neuro-ophthalmology : the Official Journal of ... Douglas KAA, Douglas VP et. al.

Feb 26th, 2021 - Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5.|2021|Douglas KAA,Douglas VP,Gaier ED,Chwalisz BK,|diagnosis,etiology,metabolism,complications,diagnosis,genetics,genetics,metabolism,

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059745
Journal of Clinical Laboratory Analysis; Tao J, Duan J et. al.

Feb 25th, 2021 - Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes. A 30-year-old man visited the hospital because of palpitations, shortness of ...

The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chroma...
https://doi.org/10.1038/s41467-021-20987-x 10.1016/j.molcel.2016.04.035 10.1186/s13059-016-1146-2 10.1038/nature06947 10.1083/jcb.200509124 10.1161/CIRCRESAHA.114.301236 10.1038/nrm2928 10.3389/fphys.2018.01533 10.1038/nrm.2016.153 10.1038/nrm2894 10.4161/cc.9.24.14328 10.1042/BST20110724 10.1016/j.cell.2017.09.018 10.1080/19491034.2018.1449498 10.1002/humu.21361 10.1038/6799 10.1038/ng1294-323 10.1097/WCO.0000000000000741 10.1016/j.nmd.2016.12.003 10.3233/JND-160169 10.1002/ana.22338 10.1093/hmg/ddm238 10.1126/science.1088176 10.1016/j.ebiom.2019.11.048 10.1128/MCB.00684-09 10.1080/19491034.2016.1261230 10.1038/ncb3477 10.1038/s41467-017-02217-5 10.1016/j.jacbts.2018.12.001 10.1111/febs.12859 10.1080/19491034.2020.1742064 10.1242/dev.114769 10.3389/fendo.2016.00069 10.1093/hmg/ddr534 10.4161/nucl.2.3.15731 10.1091/mbc.e11-01-0064 10.1002/ana.21417 10.3390/cells9040844 10.1126/sciadv.aav4324 10.1016/j.bbrc.2013.08.082 10.4161/nucl.2.3.15731 10.1242/jcs.02701 10.1016/S0960-8966(97)00115-6 10.1093/brain/awl023 10.1016/S0022-2275(20)32400-7 10.1073/pnas.1107413108 10.1186/gb-2004-5-10-r80 10.1186/gb-2010-11-10-r106 10.1093/nar/gkw1092 10.1038/nmeth.4396 10.1016/j.celrep.2014.04.037 10.1093/nar/gkv007 10.1038/nbt.4201 10.1128/MCB.18.1.69 10.7554/eLife.38319
Nature Communications; Ramirez-Martinez A, Zhang Y et. al.

Jan 31st, 2021 - Lamins and transmembrane proteins within the nuclear envelope regulate nuclear structure and chromatin organization. Nuclear envelope transmembrane protein 39 (Net39) is a muscle nuclear envelope protein whose functions in vivo have not been explo...

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Guidelines  1 results

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in ...
https://doi.org/10.1016/j.hrthm.2022.04.022
Heart Rhythm; Groh WJ, Bhakta D et. al.

May 3rd, 2022 - This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The doc...

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News  1 results

In Kids, Seek Neurologic Clues Before Transplant
https://www.mdedge.com/cardiology/article/42317/interventional-cardiology-surgery/kids-seek-neurologic-clues-transplant
Michele G. Sullivan

PITTSBURGH — Preoperative neurologic and genetic work-ups may detect a previously unsuspected cause of cardiac disease in children about to receive a heart transplant, Dr. Debabrata Ghosh reported in a poster at the annual meeting of the Child Neu.

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