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Items: 1 to 20 of 500

1.
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
ArticlePDF–989K
2.
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
ArticlePDF–776K
3.
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
ArticlePDF–613K
4.
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
ArticlePDF–554K
5.
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
ArticlePDF–704K
6.
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
SummaryPage BrowsePDF–1.1M
7.
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
ArticlePDF–15M
8.
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
ArticlePDF–949K
9.
Remodelling of cAMP dynamics within the SERCA2a microdomain in heart failure with preserved ejection fraction caused by obesity and type 2 diabetes
Ping Lai, Susanne S Hille, Hariharan Subramanian, Robert Wiegmann, Pia Roser, Oliver J Müller, Viacheslav O Nikolaev, Kirstie A De Jong
Cardiovasc Res. 2024 Feb; 120(3): 273–285. Published online 2023 Dec 14. doi: 10.1093/cvr/cvad178
PMCID:
PMC10939460
ArticlePDF–3.2M
10.
Ubiquitin specific protease 38 aggravates pathological cardiac remodeling by stabilizing phospho-TBK1
Zheng Xiao, Chang Dai, Tingting Yu, Jun Zhu, Yucheng Pan, Wei Shuai, Bin Kong, He Huang
Int J Biol Sci. 2024; 20(5): 1815–1832. Published online 2024 Feb 25. doi: 10.7150/ijbs.85562
PMCID:
PMC10929191
ArticlePDF–16M
11.
Anserine, a Histidine-Containing Dipeptide, Suppresses Pressure Overload-Induced Systolic Dysfunction by Inhibiting Histone Acetyltransferase Activity of p300 in Mice
Yoichi Sunagawa, Ryosuke Tsukabe, Yudai Irokawa, Masafumi Funamoto, Yuto Suzuki, Miho Yamada, Satoshi Shimizu, Yasufumi Katanasaka, Toshihide Hamabe-Horiike, Yuto Kawase, Ryuya Naruta, Kana Shimizu, Kiyoshi Mori, Ryota Hosomi, Maki Komiyama, Koji Hasegawa, Tatsuya Morimoto
Int J Mol Sci. 2024 Feb; 25(4): 2344. Published online 2024 Feb 16. doi: 10.3390/ijms25042344
PMCID:
PMC10889817
ArticlePDF–2.8M
12.
Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy
Sergio Muñoz, Joan Bertolin, Veronica Jimenez, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Laia Vilà, Victor Sacristan, Elena Barbon, Giuseppe Ronzitti, Jihad El Andari, Warut Tulalamba, Quang Hong Pham, Jesus Ruberte, Thierry VandenDriessche, Marinee K. Chuah, Dirk Grimm, Federico Mingozzi, Fatima Bosch
Mol Metab. 2024 Mar; 81: 101899. Published online 2024 Feb 10. doi: 10.1016/j.molmet.2024.101899
PMCID:
PMC10877955
ArticlePDF–6.4M
13.
Engineered bone marrow mesenchymal stem cell-derived exosomes loaded with miR302 through the cardiomyocyte specific peptide can reduce myocardial ischemia and reperfusion (I/R) injury
Jianjun Gu, Jia You, Hao Liang, Jiacai Zhan, Xiang Gu, Ye Zhu
J Transl Med. 2024; 22: 168. Published online 2024 Feb 17. doi: 10.1186/s12967-024-04981-7
PMCID:
PMC10874538
ArticlePDF–11M
14.
The MYPT2-regulated striated muscle-specific myosin light chain phosphatase limits cardiac myosin phosphorylation in vivo
Eunyoung Lee, Herman May, Katarzyna Kazmierczak, Jingsheng Liang, Nhu Nguyen, Joseph A. Hill, Thomas G. Gillette, Danuta Szczesna-Cordary, Audrey N. Chang
J Biol Chem. 2024 Feb; 300(2): 105652. Published online 2024 Jan 13. doi: 10.1016/j.jbc.2024.105652
PMCID:
PMC10851227
ArticlePDF–2.7M
15.
A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju, Yan-Shan Liu
BMC Med Genomics. 2024; 17: 46. Published online 2024 Feb 1. doi: 10.1186/s12920-024-01794-x
PMCID:
PMC10832127
ArticlePDF–1.0M
16.
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy
Constantin-Cristian Topriceanu, Alexandre C. Pereira, James C. Moon, Gabriella Captur, Carolyn Y. Ho
Circulation. 2024 Jan 9; 149(2): 107–123. Published online 2023 Nov 6. doi: 10.1161/CIRCULATIONAHA.123.065987
PMCID:
PMC10775968
ArticlePDF–1.5M
17.
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation
Yeranuhi Hovhannisyan, Zhenlin Li, Domitille Callon, Rodolphe Suspène, Vivien Batoumeni, Alexis Canette, Jocelyne Blanc, Hakim Hocini, Cécile Lefebvre, Nora El-Jahrani, Maria Kitsara, Aurore L’honoré, Ekaterini Kordeli, Paul Fornes, Jean-Paul Concordet, Gérard Tachdjian, Anne-Marie Rodriguez, Jean-Pierre Vartanian, Anthony Béhin, Karim Wahbi, Pierre Joanne, Onnik Agbulut
Stem Cell Res Ther. 2024; 15: 10. Published online 2024 Jan 2. doi: 10.1186/s13287-023-03619-7
PMCID:
PMC10763022
ArticlePDF–13M
18.
Impact of diffused versus vasculature targeted DNA damage on the heart of mice depleted of telomeric factor Ft1
Mattia La Torre, Eleonora Centofante, Carmine Nicoletti, Romina Burla, Alessandro Giampietro, Federica Cannistrà, Leonardo Schirone, Valentina Valenti, Sebastiano Sciarretta, Antonio Musarò, Isabella Saggio
Aging Cell. 2023 Dec; 22(12): e14022. Published online 2023 Nov 13. doi: 10.1111/acel.14022
PMCID:
PMC10726857
ArticlePDF–26M
19.
Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease
Anna B. Meier, Dorota Zawada, Maria Teresa De Angelis, Laura D. Martens, Gianluca Santamaria, Sophie Zengerle, Monika Nowak-Imialek, Jessica Kornherr, Fangfang Zhang, Qinghai Tian, Cordula M. Wolf, Christian Kupatt, Makoto Sahara, Peter Lipp, Fabian J. Theis, Julien Gagneur, Alexander Goedel, Karl-Ludwig Laugwitz, Tatjana Dorn, Alessandra Moretti
Nat Biotechnol. 2023; 41(12): 1787–1800. Published online 2023 Apr 3. doi: 10.1038/s41587-023-01718-7
PMCID:
PMC10713454
ArticlePDF–15M
20.
ERRγ agonist under mechanical stretching manifests hypertrophic cardiomyopathy phenotypes of engineered cardiac tissue through maturation
Yuya Fujiwara, Kenji Miki, Kohei Deguchi, Yuki Naka, Masako Sasaki, Ayaka Sakoda, Megumi Narita, Sachiko Imaichi, Tsukasa Sugo, Shunsuke Funakoshi, Tomoyuki Nishimoto, Kenichi Imahashi, Yoshinori Yoshida
Stem Cell Reports. 2023 Nov 14; 18(11): 2108–2122. Published online 2023 Oct 5. doi: 10.1016/j.stemcr.2023.09.003
PMCID:
PMC10679535
ArticlePDF–3.5M

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