PubMed for id: 393713

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Results by year

Year	Number of Results
2012	23
2013	50
2014	52
2015	54
2016	44
2017	51
2018	50
2019	50
2020	47
2021	71
2022	67
2023	34

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Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB, Thuma J, Davis JP. Tikunova SB, et al. Int J Mol Sci. 2023 Aug 2;24(15):12349. doi: 10.3390/ijms241512349. Int J Mol Sci. 2023. PMID: 37569724 Free PMC article. Review.

Clinical manifestations and MRI features of Danon disease: a case series.

Zhang Y, Zhao R, Yuan Y, Yu Y, Liu B, Li X. Zhang Y, et al. BMC Cardiovasc Disord. 2023 Aug 11;23(1):397. doi: 10.1186/s12872-023-03356-y. BMC Cardiovasc Disord. 2023. PMID: 37568080 Free PMC article.

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH. Chan MY, et al. Orphanet J Rare Dis. 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. Orphanet J Rare Dis. 2023. PMID: 37542277 Free PMC article.

A novel mutation in the TTN gene resulted in left ventricular noncompaction: a case report and literature review.

Tian S, Liang H, Li X, Cao B, Feng L, Wang L. Tian S, et al. BMC Cardiovasc Disord. 2023 Jul 17;23(1):352. doi: 10.1186/s12872-023-03382-w. BMC Cardiovasc Disord. 2023. PMID: 37460987 Free PMC article. Review.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37457373 Free PMC article.

Clinical features of pediatric Danon disease and the importance of early diagnosis.

Gandaeva L, Sonicheva-Paterson N, McKenna WJ, Savostyanov K, Myasnikov R, Pushkov A, Zhanin I, Barskiy V, Zharova O, Silnova I, Kaverina V, Sdvigova N, Fisenko A, Arad M, Basargina E. Gandaeva L, et al. Int J Cardiol. 2023 Oct 15;389:131189. doi: 10.1016/j.ijcard.2023.131189. Epub 2023 Jul 14. Int J Cardiol. 2023. PMID: 37454822

ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case.

Grosyeux C, Jourdan L, Jellimann JM, Grandmougin A, Bronner M, Lambert L, Bonnet C. Grosyeux C, et al. Eur J Med Genet. 2023 Aug;66(8):104803. doi: 10.1016/j.ejmg.2023.104803. Epub 2023 Jun 26. Eur J Med Genet. 2023. PMID: 37379879

Impaired Cardiomyocyte Maturation Leading to DCM: A Case Report and Literature Review.

Zhou L, Huang J, Li H, Duan H, Hua Y, Guo Y, Zhou K, Li Y. Zhou L, et al. Medicina (Kaunas). 2023 Jun 16;59(6):1158. doi: 10.3390/medicina59061158. Medicina (Kaunas). 2023. PMID: 37374362 Free PMC article. Review.

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.

Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.

Korover N, Etzion S, Cherniak A, Rabinski T, Levitas A, Etzion Y, Ofir R, Parvari R, Cohen S. Korover N, et al. Biol Res. 2023 Jun 23;56(1):34. doi: 10.1186/s40659-023-00442-5. Biol Res. 2023. PMID: 37349842 Free PMC article.

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