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Select item 70107671.

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy

Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu

Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7

PMCID:: PMC7010767

Abstract Article PDF–1.5M

Select item 63652682.

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Peng Fan, Chao-Xia Lu, Xue-Qi Dong, Di Zhu, Kun-Qi Yang, Ke-Qiang Liu, Di Zhang, Ying Zhang, Xu Meng, Hui-Qiong Tan, Li-Tian Yu, Ke-Fei Dou, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou

Chin Med J (Engl) 2019 Jan 20; 132(2): 127–134. Published online 2019 Jan 7. doi: 10.1097/CM9.0000000000000001

PMCID:: PMC6365268

Abstract Article PDF–912K

Select item 61883513.

Human amniotic fluid stem cell differentiation along smooth muscle lineage

Marco Ghionzoli, Andrea Repele, Laura Sartiani, Giulia Costanzi, Astrid Parenti, Valentina Spinelli, Anna L. David, Massimo Garriboli, Giorgia Totonelli, Jun Tian, Stelios T. Andreadis, Elisabetta Cerbai, Alessandro Mugelli, Antonio Messineo, Agostino Pierro, Simon Eaton, Paolo De Coppi

FASEB J. 2013 Dec; 27(12): 4853–4865. doi: 10.1096/fj.12-218578

PMCID:: PMC6188351

Abstract Article

Select item 60286084.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek A. Yousry

Front Neurol. 2018; 9: 456. Published online 2018 Jun 26. doi: 10.3389/fneur.2018.00456

PMCID:: PMC6028608

Abstract Article PDF–1.8M

Select item 59246105.

CONGENITAL MYASTHENIC SYNDROMES IN TURKEY: CLINICAL CLUES AND PROGNOSIS WITH LONG TERM FOLLOW-UP

Hacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, Bulent Kara, Yesim Gulsen-Parman, Coskun Ozdemir, Joan Brengman, Feza Deymeer, Andrew G. Engel

Neuromuscul Disord. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Neuromuscul Disord. 2018 Apr; 28(4): 315–322. Published online 2017 Nov 28. doi: 10.1016/j.nmd.2017.11.013

Correction in:: Neuromuscul Disord. 2018 Oct; 28(10): 896.

PMCID:: PMC5924610

Abstract Article PDF–453K

Select item 58475176.

Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy

Patrícia B. S. Celestino-Soper, Ty C. Lynnes, Lili Zhang, Karen Ouyang, Samuel Wann, Victoria L. Clyde, Matteo Vatta

Sci Rep. 2018; 8: 4350. Published online 2018 Mar 12. doi: 10.1038/s41598-018-22334-5

PMCID:: PMC5847517

Abstract Article PDF–1.7M

Select item 54152297.

Retraction: Pid1 Induces Insulin Resistance in Both Human and Mouse Skeletal Muscle during Obesity

Sabeera Bonala, Craig McFarlane, Jackie Ang, Radiance Lim, Marcus Lee, Hillary Chua, Sudarsanareddy Lokireddy, Patnam Sreekanth, Melvin Khee Shing Leow, Khoo Chin Meng, TAI E Shyong, Yung Seng Lee, Peter D. Gluckman, Mridula Sharma, Ravi Kambadur

Mol Endocrinol. September 1, 2013; 27(9): 1518–1535. Published online 2013 Aug 8. doi: 10.1210/me.2013-1048

Correction in:: Mol Endocrinol. 2015 Jan; 29(1): 153.

Retraction in:: Mol Endocrinol. 2016 Aug; 30(8): 949.

PMCID:: PMC5415229

Abstract Article

Select item 53993168.

Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome

Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu

J Transl Med. 2017; 15: 78. Published online 2017 Apr 20. doi: 10.1186/s12967-017-1180-1

Correction in:: J Transl Med. 2017; 15: 101.

PMCID:: PMC5399316

Abstract Article PDF–3.2M

Select item 53243289.

Gene expression regional differences in human subcutaneous adipose tissue

Angelina Passaro, Maria Agata Miselli, Juana Maria Sanz, Edoardo Dalla Nora, Mario Luca Morieri, Rossella Colonna, Rado Pišot, Giovanni Zuliani

BMC Genomics. 2017; 18: 202. Published online 2017 Feb 23. doi: 10.1186/s12864-017-3564-2

PMCID:: PMC5324328

Abstract Article PDF–826K

Select item 512719510.

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Montse Olivé, Judith Armstrong, Francesc Miralles, Adolf Pou, Michel Fardeau, Laura Gonzalez, Francesca Martínez, Dirk Fischer, Juan Antonio Martínez Matos, Alexey Shatunov, Lev Goldfarb, Isidre Ferrer

Neuromuscul Disord. Author manuscript; available in PMC 2016 Nov 29.

Published in final edited form as: Neuromuscul Disord. 2007 Jun; 17(6): 443–450. Published online 2007 Apr 5. doi: 10.1016/j.nmd.2007.02.009

PMCID:: PMC5127195

Abstract Article PDF–1.4M

Select item 506637011.

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

Abstract Article

Select item 492431312.

Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody

Ian Holt, Nguyen Thuy Duong, Qiuping Zhang, Le Thanh Lam, Caroline A. Sewry, Kamel Mamchaoui, Catherine M. Shanahan, Glenn E. Morris

BMC Cell Biol. 2016; 17: 26. Published online 2016 Jun 27. doi: 10.1186/s12860-016-0105-9

PMCID:: PMC4924313

Abstract Article PDF–2.2M

Select item 481911613.

Genetic Comparison of Stemness of Human Umbilical Cord and Dental Pulp

Chung-Min Kang, Hyunok Kim, Je Seon Song, Byung-Jai Choi, Seong-Oh Kim, Han-Sung Jung, Seok-Jun Moon, Hyung-Jun Choi

Stem Cells Int. 2016; 2016: 3453890. Published online 2016 Mar 21. doi: 10.1155/2016/3453890

PMCID:: PMC4819116

Abstract Article PDF–3.1M

Select item 467815314.

Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy

YUE ZHAO, YUE FENG, YUN-MEI ZHANG, XIAO-XUE DING, YU-ZHU SONG, A-MEI ZHANG, LI LIU, HONG ZHANG, JIA-HUAN DING, XUE-SHAN XIA

Int J Mol Med. 2015 Dec; 36(6): 1479–1486. Published online 2015 Oct 7. doi: 10.3892/ijmm.2015.2361

PMCID:: PMC4678153

Abstract Article PDF–680K

Select item 437405915.

Abnormal Accumulation of Desmin in Gastrocnemius Myofibers of Patients with Peripheral Artery Disease: Associations with Altered Myofiber Morphology and Density, Mitochondrial Dysfunction and Impaired Limb Function

Panagiotis Koutakis, Dimitrios Miserlis, Sara A. Myers, Julian Kyung-Soo Kim, Zhen Zhu, Evlampia Papoutsi, Stanley A. Swanson, Gleb Haynatzki, Duy M. Ha, Lauren A. Carpenter, Rodney D. McComb, Jason M. Johanning, George P. Casale, Iraklis I. Pipinos

J Histochem Cytochem. 2015 Apr; 63(4): 256–269. doi: 10.1369/0022155415569348

PMCID:: PMC4374059

Abstract Article PDF–1.3M

Select item 417154116.

Podocyte Injury Caused by Indoxyl Sulfate, a Uremic Toxin and Aryl-Hydrocarbon Receptor Ligand

Osamu Ichii, Saori Otsuka-Kanazawa, Teppei Nakamura, Masaaki Ueno, Yasuhiro Kon, Weiping Chen, Avi Z. Rosenberg, Jeffrey B. Kopp

PLoS One. 2014; 9(9): e108448. Published online 2014 Sep 22. doi: 10.1371/journal.pone.0108448

PMCID:: PMC4171541

Abstract Article PDF–3.4M

Select item 405495117.

Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy

Vitali Alexeev, Machiko Arita, Adele Donahue, Paolo Bonaldo, Mon-Li Chu, Olga Igoucheva

Stem Cell Res Ther. 2014; 5(1): 21. Published online 2014 Feb 12. doi: 10.1186/scrt411

PMCID:: PMC4054951

Abstract Article PDF–3.1M

Select item 381881818.

Systems Approaches to Modeling Chronic Mucosal Inflammation

Mridul Kalita, Bing Tian, Boning Gao, Sanjeev Choudhary, Thomas G. Wood, Joseph R. Carmical, Istvan Boldogh, Sankar Mitra, John D. Minna, Allan R. Brasier

Biomed Res Int. 2013; 2013: 505864. Published online 2013 Oct 21. doi: 10.1155/2013/505864

PMCID:: PMC3818818

Abstract Article PDF–3.8M

Select item 367644219.

Platelet-Rich Plasma Promotes the Proliferation of Human Muscle Derived Progenitor Cells and Maintains Their Stemness

Hongshuai Li, Arvydas Usas, Minakshi Poddar, Chien-Wen Chen, Seth Thompson, Bahar Ahani, James Cummins, Mitra Lavasani, Johnny Huard

PLoS One. 2013; 8(6): e64923. Published online 2013 Jun 7. doi: 10.1371/journal.pone.0064923

PMCID:: PMC3676442

Abstract Article PDF–1.2M

Select item 355495720.

Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

Alessandra Lorenzon, Giorgia Beffagna, Barbara Bauce, Marzia De Bortoli, Ilena E.A. Li Mura, Martina Calore, Emanuela Dazzo, Cristina Basso, Andrea Nava, Gaetano Thiene, Alessandra Rampazzo

Am J Cardiol. 2013 Feb 1; 111(3): 400–405. doi: 10.1016/j.amjcard.2012.10.017