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Select item 48912121.

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

Jean-François Desaphy, Roberta Carbonara, Adele D'Amico, Anna Modoni, Julien Roussel, Paola Imbrici, Serena Pagliarani, Sabrina Lucchiari, Mauro Lo Monaco, Diana Conte Camerino

Neurology. 2016 May 31; 86(22): 2100–2108. doi: 10.1212/WNL.0000000000002721

PMCID:: PMC4891212

Abstract Article PDF–989K

Select item 31103622.

Molecular Identification of Trichinella papuae from a Thai Patient with Imported Trichinellosis

Pewpan M. Intapan, Verajit Chotmongkol, Chairat Tantrawatpan, Oranuch Sanpool, Nimit Morakote, Wanchai Maleewong

Am J Trop Med Hyg. 2011 Jun 1; 84(6): 994–997. doi: 10.4269/ajtmh.2011.10-0675

PMCID:: PMC3110362

Abstract Article PDF–776K

Select item 12880953.

Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

Martin Brockington, Caroline A. Sewry, Ralf Herrmann, Isam Naom, Andrew Dearlove, Michael Rhodes, Haluk Topaloglu, Victor Dubowitz, Thomas Voit, Francesco Muntoni

Am J Hum Genet. 2000 Feb; 66(2): 428–435. Published online 2000 Jan 27. doi: 10.1086/302775

PMCID:: PMC1288095

Abstract Article PDF–613K

Select item 61510444.

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

Jing Miao, Xiao-jing Wei, Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao, Xue-fan Yu

BMC Neurol. 2018; 18: 154. Published online 2018 Sep 22. doi: 10.1186/s12883-018-1153-x

PMCID:: PMC6151044

Abstract Article PDF–554K

Select item 40908545.

Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases

Atchayaram Nalini, C. Govindaraju, Pramila Kalra, Prashanth Kadukar

Ann Indian Acad Neurol. 2014 Apr-Jun; 17(2): 217–221. doi: 10.4103/0972-2327.132643

PMCID:: PMC4090854

Abstract Article PDF–704K

Select item 24264156.

Kocher-Debré-Sémélaigne syndrome and congenital nystagmus

K. Radhakrishnan, B. N. S. Walia, K. Venkateswarlu, S. B. S. Mann

Postgrad Med J. 1982 May; 58(679): 307–310. doi: 10.1136/pgmj.58.679.307

PMCID:: PMC2426415

Summary Page Browse PDF–1.1M

Select item 112135167.

Mitochondria regulate proliferation in adult cardiac myocytes

Gregory B. Waypa, Kimberly A. Smith, Paul T. Mungai, Vincent J. Dudley, Kathryn A. Helmin, Benjamin D. Singer, Clara Bien Peek, Joseph Bass, Lauren Nelson, Sanjiv J. Shah, Gaston Ofman, J. Andrew Wasserstrom, William A. Muller, Alexander V. Misharin, G.R. Scott Budinger, Hiam Abdala-Valencia, Navdeep S. Chandel, Danijela Dokic, Elizabeth Bartom, Shuang Zhang, Yuki Tatekoshi, Amir Mahmoodzadeh, Hossein Ardehali, Edward B. Thorp, Paul T. Schumacker

J Clin Invest. 2024 Jul 1; 134(13): e165482. Published online 2024 May 9. doi: 10.1172/JCI165482

PMCID:: PMC11213516

Abstract Article PDF–5.5M

Select item 112134658.

The long noncoding RNA CARDINAL attenuates cardiac hypertrophy by modulating protein translation

Xin He, Tiqun Yang, Yao Wei Lu, Gengze Wu, Gang Dai, Qing Ma, Mingming Zhang, Huimin Zhou, Tianxin Long, Youchen Yan, Zhuomin Liang, Chen Liu, William T. Pu, Yugang Dong, Jingsong Ou, Hong Chen, John D. Mably, Jiangui He, Da-Zhi Wang, Zhan-Peng Huang

J Clin Invest. 2024 Jul 1; 134(13): e169112. Published online 2024 May 14. doi: 10.1172/JCI169112

PMCID:: PMC11213465

Abstract Article PDF–13M

Select item 112000179.

Building Haplotype‐Resolved 3D Genome Maps of Chicken Skeletal Muscle

Jing Li, Yu Lin, Diyan Li, Mengnan He, Hua Kui, Jingyi Bai, Ziyu Chen, Yuwei Gou, Jiaman Zhang, Tao Wang, Qianzi Tang, Fanli Kong, Long Jin, Mingzhou Li

Adv Sci (Weinh) 2024 Jun; 11(24): 2305706. Published online 2024 Apr 6. doi: 10.1002/advs.202305706

PMCID:: PMC11200017

Abstract Article PDF–6.6M

Select item 1118863410.

Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopathy

Edgar E. Nollet, Maike Schuldt, Vasco Sequeira, Aleksandra Binek, Thang V. Pham, Stephan A.C. Schoonvelde, Mark Jansen, Bauke V. Schomakers, Michel van Weeghel, Fred M. Vaz, Riekelt H. Houtkooper, Jennifer E. Van Eyk, Connie R. Jimenez, Michelle Michels, Kenneth C. Bedi, Jr, Kenneth B. Margulies, Cristobal G. dos Remedios, Diederik W.D. Kuster, Jolanda van der Velden

Circ Genom Precis Med. 2024 Jun; 17(3): e004369. Published online 2024 Jun 10. doi: 10.1161/CIRCGEN.123.004369

PMCID:: PMC11188634

Abstract Article PDF–4.0M

Select item 1116575511.

Combinatorial metabolomic and transcriptomic analysis of muscle growth in hybrid striped bass (female white bass Morone chrysops x male striped bass M. saxatilis)

Sarah A. S. Rajab, Linnea K. Andersen, Linas W. Kenter, David L. Berlinsky, Russell J. Borski, Andrew S. McGinty, Christopher M. Ashwell, Peter R. Ferket, Harry V. Daniels, Benjamin J. Reading

BMC Genomics. 2024; 25: 580. Published online 2024 Jun 10. doi: 10.1186/s12864-024-10325-y

PMCID:: PMC11165755

Abstract Article PDF–2.9M

Select item 1115467012.

Inositol 1,4,5-trisphosphate-mediated sarcoplasmic reticulum–mitochondrial crosstalk influences adenosine triphosphate production via mitochondrial Ca ²⁺ uptake through the mitochondrial ryanodine receptor in cardiac myocytes

Lea K. Seidlmayer, Johannes Kuhn, Annette Berbner, Paula-Anahi Arias-Loza, Tatjana Williams, Mathias Kaspar, Martin Czolbe, Jennifer Q. Kwong, Jeffery D. Molkentin, Katrin Gertrud Heinze, Elena N. Dedkova, Oliver Ritter

Cardiovasc Res. 2016 Oct; 112(1): 491–501. Published online 2016 Aug 5. doi: 10.1093/cvr/cvw185

PMCID:: PMC11154670

Abstract Article PDF–902K

Select item 1113988113.

Low to moderate dose ¹³⁷Cs (γ) radiation promotes M2 type macrophage skewing and reduces atherosclerotic plaque CD68+ cell content in ApoE^(−/−) mice

N. Rey, T. Ebrahimian, C. Gloaguen, D. Kereselidze, E. Christelle, C. Brizais, F. Bachelot, G. Riazi, V. Monceau, C. Demarquay, I. Garali Zineddine, D. Klokov, S. Lehoux, Teni G. Ebrahimian

Sci Rep. 2024; 14: 12450. Published online 2024 May 30. doi: 10.1038/s41598-024-63084-x

PMCID:: PMC11139881

Abstract Article PDF–2.5M

Select item 1110786114.

Genetics of myocardial interstitial fibrosis in the human heart and association with disease

Victor Nauffal, Paolo Di Achille, Marcus D. R. Klarqvist, Jonathan W. Cunningham, Matthew C. Hill, James P. Pirruccello, Lu-Chen Weng, Valerie N. Morrill, Seung Hoan Choi, Shaan Khurshid, Samuel F. Friedman, Mahan Nekoui, Carolina Roselli, Kenney Ng, Anthony A. Philippakis, Puneet Batra, Patrick T. Ellinor, Steven A. Lubitz

Nat Genet. Author manuscript; available in PMC 2024 May 21.

Published in final edited form as: Nat Genet. 2023 May; 55(5): 777–786. Published online 2023 Apr 20. doi: 10.1038/s41588-023-01371-5

PMCID:: PMC11107861

Abstract Article PDF–1.9M

Select item 1109155915.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-François Desaphy

J Neuromuscul Dis. 2024; 11(3): 725–734. Prepublished online 2024 Mar 1. Published online 2024 Apr 30. doi: 10.3233/JND-230134

PMCID:: PMC11091559

Abstract Article PDF–1.2M

Select item 1108830716.

Cardiomyocyte-specific deletion of the mitochondrial transporter Abcb10 causes cardiac dysfunction via lysosomal-mediated ferroptosis

Yura Do, Mikako Yagi, Haruka Hirai, Kenji Miki, Yukina Fukahori, Daiki Setoyama, Masatatsu Yamamoto, Tatsuhiko Furukawa, Yuya Kunisaki, Dongchon Kang, Takeshi Uchiumi

Biosci Rep. 2024 May 29; 44(5): BSR20231992. Published online 2024 May 10. doi: 10.1042/BSR20231992

PMCID:: PMC11088307

Abstract Article PDF–9.7M

Select item 1105801817.

Clonal Hematopoiesis of Indeterminate Potential With Loss of Tet2 Enhances Risk for Atrial Fibrillation Through Nlrp3 Inflammasome Activation

Amy Erica Lin, Aneesh C. Bapat, Ling Xiao, Abhishek Niroula, Jiangchuan Ye, Waihay J. Wong, Mridul Agrawal, Christopher J. Farady, Andreas Boettcher, Christopher B. Hergott, Marie McConkey, Patricio Flores-Bringas, Veronica Shkolnik, Alexander G. Bick, David Milan, Pradeep Natarajan, Peter Libby, Patrick T. Ellinor, Benjamin L. Ebert

Circulation. 2024 Apr 30; 149(18): 1419–1434. Published online 2024 Feb 15. doi: 10.1161/CIRCULATIONAHA.123.065597

PMCID:: PMC11058018

Abstract Article PDF–1.6M

Select item 1104992718.

The Effects of Chronic Immunosuppressive Treatment on Morphological Changes in Cardiac Tissue and the Balance between Matrix Metalloproteinases (MMP-2 and MMP-9) and Their Inhibitors in the Rat Heart

Anna Surówka, Michał Żołnierczuk, Piotr Prowans, Marta Grabowska, Patrycja Kupnicka, Marta Markowska, Joanna Olejnik-Wojciechowska, Zbigniew Szlosser, Aleksandra Wilk, Kamila Szumilas, Karolina Kędzierska-Kapuza

Int J Mol Sci. 2024 Apr; 25(8): 4468. Published online 2024 Apr 18. doi: 10.3390/ijms25084468

PMCID:: PMC11049927

Abstract Article PDF–4.2M

Select item 1095516219.

Deficiency of heme oxygenase 1a causes detrimental effects on cardiac function

Hong Wang, Juuso Siren, Sanni Perttunen, Katariina Immonen, Yu‐Chia Chen, Suneeta Narumanchi, Riikka Kosonen, Jere Paavola, Mika Laine, Ilkka Tikkanen, Päivi Lakkisto

J Cell Mol Med. 2024 Apr; 28(7): e18243. Published online 2024 Mar 20. doi: 10.1111/jcmm.18243

PMCID:: PMC10955162

Abstract Article PDF–15M

Select item 1094997420.

Utilizing Human-Induced Pluripotent Stem Cells to Study Cardiac Electroporation Pulsed-Field Ablation

Leonid Maizels, Eyal Heller, Michal Landesberg, Shany Glatstein, Irit Huber, Gil Arbel, Amira Gepstein, Doron Aronson, Shirley Sharabi, Roy Beinart, Amit Segev, Elad Maor, Lior Gepstein

Circ Arrhythm Electrophysiol. 2024 Mar; 17(3): e012278. Published online 2024 Feb 12. doi: 10.1161/CIRCEP.123.012278

PMCID:: PMC10949974

Abstract Article PDF–949K

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