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Select item 68959911.

X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Emanuela Viggiano, Agnieszka Madej-Pilarczyk, Nicola Carboni, Esther Picillo, Manuela Ergoli, Stefania del Gaudio, Michal Marchel, Gerardo Nigro, Alberto Palladino, Luisa Politano

Genes (Basel) 2019 Nov; 10(11): 919. Published online 2019 Nov 11. doi: 10.3390/genes10110919

PMCID:: PMC6895991

Abstract Article PDF–1.0M

Select item 60687252.

Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation?

Fabio Spanu, Luca Saba

World J Radiol. 2018 Jul 28; 10(7): 78–82. Published online 2018 Jul 28. doi: 10.4329/wjr.v10.i7.78

PMCID:: PMC6068725

Abstract Article PDF–1.0M

Select item 43171923.

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Peter Meinke, Peter Schneiderat, Vlastimil Srsen, Nadia Korfali, Phú Lê Thành, Graeme J.M. Cowan, David R. Cavanagh, Manfred Wehnert, Eric C. Schirmer, Maggie C. Walter

Neuromuscul Disord. 2015 Feb; 25(2): 127–136. doi: 10.1016/j.nmd.2014.09.012

PMCID:: PMC4317192

Abstract Article PDF–2.6M

Select item 79176734.

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

Michał Marchel, Agnieszka Madej-Pilarczyk, Agata Tymińska, Roman Steckiewicz, Ewa Ostrowska, Julia Wysińska, Vincenzo Russo, Marcin Grabowski, Grzegorz Opolski

J Clin Med. 2021 Feb; 10(4): 732. Published online 2021 Feb 12. doi: 10.3390/jcm10040732

PMCID:: PMC7917673

Abstract Article PDF–1.5M

Select item 29493095.

Emerinopathy and Laminopathy Clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan

MN Astejada, K Goto, A Nagano, S Ura, S Noguchi, I Nonaka, I Nishino, YK Hayashi

Acta Myol. 2007 Dec; 26(3): 159–164.

PMCID:: PMC2949309

Abstract Article PDF–217K

Select item 111155136.

Identification of an emerin–β-catenin complex in the heart important for intercalated disc architecture and β-catenin localisation

Matthew A. Wheeler, Alice Warley, Roland G. Roberts, Elisabeth Ehler, Juliet A. Ellis

Cell Mol Life Sci. 2010 Mar; 67(5): 781–796. Published online 2009 Dec 9. doi: 10.1007/s00018-009-0219-8

PMCID:: PMC11115513

Abstract Article PDF–907K

Select item 66283117.

An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress

Nada Essawy, Camille Samson, Ambre Petitalot, Sophie Moog, Anne Bigot, Isaline Herrada, Agathe Marcelot, Ana-Andreea Arteni, Catherine Coirault, Sophie Zinn-Justin

Cells. 2019 Jun; 8(6): 570. Published online 2019 Jun 10. doi: 10.3390/cells8060570

PMCID:: PMC6628311

Abstract Article PDF–4.7M

Select item 63464158.

A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy

Junfeng Zhou, Hui Li, Xiangping Li, Yonggui Li, Mei Yang, Gaoxing Shi, Danyan Xu, Xiaoliu Shi

Brain Behav. 2019 Jan; 9(1): e01167. Published online 2018 Dec 3. doi: 10.1002/brb3.1167

PMCID:: PMC6346415

Abstract Article PDF–672K

Select item 48697179.

Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties

Isaline Herrada, Camille Samson, Christophe Velours, Louis Renault, Cecilia Östlund, Pierre Chervy, Dmytro Puchkov, Howard J Worman, Brigitte Buendia, Sophie Zinn-Justin

ACS Chem Biol. Author manuscript; available in PMC 2016 Dec 18.

Published in final edited form as: ACS Chem Biol. 2015 Dec 18; 10(12): 2733–2742. Published online 2015 Oct 5. doi: 10.1021/acschembio.5b00648

PMCID:: PMC4869717

Abstract Article PDF–2.6M

Select item 425204110.

Identification of a Novel Human LAP1 Isoform That Is Regulated by Protein Phosphorylation

Mariana Santos, Sara C. Domingues, Patrícia Costa, Thorsten Muller, Sara Galozzi, Katrin Marcus, Edgar F. da Cruz e Silva, Odete A. da Cruz e Silva, Sandra Rebelo

PLoS One. 2014; 9(12): e113732. Published online 2014 Dec 2. doi: 10.1371/journal.pone.0113732

PMCID:: PMC4252041

Abstract Article PDF–2.2M

Select item 403849111.

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

Fiona L. M. Norwood, Chris Harling, Patrick F. Chinnery, Michelle Eagle, Kate Bushby, Volker Straub

Brain. Author manuscript; available in PMC 2014 May 29.

Published in final edited form as: Brain. 2009 Nov; 132(0 11): 3175–3186. Published online 2009 Sep 18. doi: 10.1093/brain/awp236

PMCID:: PMC4038491

Abstract Article PDF–448K

Select item 379805612.

Lamina-associated Polypeptide-1 Interacts with the Muscular Dystrophy Protein Emerin and is Essential for Skeletal Muscle Maintenance

Ji-Yeon Shin, Iván Méndez-López, Yuexia Wang, Arthur P. Hays, Kurenai Tanji, Jay H. Lefkowitch, P. Christian Schulze, Howard J. Worman, William T. Dauer

Dev Cell. Author manuscript; available in PMC 2014 Sep 30.

Published in final edited form as: Dev Cell. 2013 Sep 30; 26(6): 591–603. Published online 2013 Sep 19. doi: 10.1016/j.devcel.2013.08.012

PMCID:: PMC3798056

Abstract Article PDF–2.9M

Select item 296435513.

“Laminopathies:” a wide spectrum of human diseases

Howard J. Worman, Gisèle Bonne

Exp Cell Res. Author manuscript; available in PMC 2010 Oct 26.

Published in final edited form as: Exp Cell Res. 2007 Jun 10; 313(10): 2121–2133. Published online 2007 Mar 30. doi: 10.1016/j.yexcr.2007.03.028

PMCID:: PMC2964355

Abstract Article PDF–738K

Select item 255994214.

Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy

James M. Holaska, Katherine L. Wilson

Anat Rec A Discov Mol Cell Evol Biol. Author manuscript; available in PMC 2008 Oct 3.

Published in final edited form as: Anat Rec A Discov Mol Cell Evol Biol. 2006 Jul; 288(7): 676–680. doi: 10.1002/ar.a.20334

PMCID:: PMC2559942

Abstract Article PDF–158K

Select item 236715715.

X-Linked Nonsyndromic Sinus Node Dysfunction and Atrial Fibrillation Caused by Emerin Mutation

MARGARET L. KARST, KATHLEEN J. HERRON, TIMOTHY M. OLSON

J Cardiovasc Electrophysiol. Author manuscript; available in PMC 2009 May 1.

Published in final edited form as: J Cardiovasc Electrophysiol. 2008 May; 19(5): 510–515. Published online 2008 Feb 4. doi: 10.1111/j.1540-8167.2007.01081.x

PMCID:: PMC2367157

Abstract Article PDF–614K

Select item 101626416.

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

J R Yates, J P Warner, J A Smith, F Deymeer, J P Azulay, I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska, N A Affara, M A Ferguson-Smith

J Med Genet. 1993 Feb; 30(2): 108–111. doi: 10.1136/jmg.30.2.108

PMCID:: PMC1016264

Summary Page Browse PDF–709K

Select item 899509617.

Emerin self-assembly and nucleoskeletal coupling regulate nuclear envelope mechanics against stress

Anthony Fernandez, Markville Bautista, Liying Wu, Fabien Pinaud

J Cell Sci. 2022 Mar 15; 135(6): jcs258969. Published online 2022 Mar 30. doi: 10.1242/jcs.258969

PMCID:: PMC8995096

Abstract Article

Select item 954950318.

A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes

Zunhui Du, Tinfang Zhu, Menglu Lin, Yangyang Bao, Jing Qiao, Gang Lv, Yinyin Xie, Qihen Li, Jinwei Quan, Cathy Xu, Yuan Xie, Lingjie Wang, Wenjie Yang, Shengyue Wang, Liqun Wu, Tong Yin, Yucai Xie

J Cell Mol Med. 2022 Oct; 26(19): 5054–5066. Published online 2022 Sep 15. doi: 10.1111/jcmm.17532