Similar articles for PMID: 31526942

Year	Number of Results
1995	3
1999	2
2000	3
2001	5
2002	4
2003	1
2005	1
2007	3
2008	4
2009	1
2012	3
2013	6
2014	3
2015	3
2016	25
2017	16
2018	6
2019	29
2020	36
2021	22
2022	47
2023	6
2024	0

1

Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene.

Ma Y, Zhang H, Yang X, Li Y, Guan J, Lv Y, Li H, Liu Y, Gai Z. Ma Y, et al. Stem Cell Res. 2019 Oct;40:101559. doi: 10.1016/j.scr.2019.101559. Epub 2019 Sep 10. Stem Cell Res. 2019. PMID: 31526942 Free article.

2

An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.

Ma Y, Zhang H, Li X, Yang X, Li Y, Guan J, Lv Y, Gai Z, Liu Y. Ma Y, et al. Stem Cell Res. 2020 Mar;43:101729. doi: 10.1016/j.scr.2020.101729. Epub 2020 Feb 4. Stem Cell Res. 2020. PMID: 32062132 Free article.

3

Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene.

Zhang H, Ma Y, Yan B, Yang X, Li Y, Guan J, Dong R, Liu Y, Gai Z. Zhang H, et al. Stem Cell Res. 2019 Oct;40:101565. doi: 10.1016/j.scr.2019.101565. Epub 2019 Sep 6. Stem Cell Res. 2019. PMID: 31522012 Free article.

4

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. Mokbel N, et al. Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31. Brain. 2013. PMID: 23378224 Free article.

5

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C. Donner K, et al. Neuromuscul Disord. 2002 Feb;12(2):151-8. doi: 10.1016/s0960-8966(01)00252-8. Neuromuscul Disord. 2002. PMID: 11738357

6

The molecular mechanism of muscle dysfunction associated with the R133W mutation in Tpm2.2.

Borovikov YS, Karpicheva OE, Avrova SV, Simonyan AO, Sirenko VV, Redwood CS. Borovikov YS, et al. Biochem Biophys Res Commun. 2020 Feb 26;523(1):258-262. doi: 10.1016/j.bbrc.2019.12.061. Epub 2019 Dec 19. Biochem Biophys Res Commun. 2020. PMID: 31864708

7

Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.

Clayton JS, Suleski I, Vo C, Smith R, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Houweling PJ, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Stem Cell Res. 2022 Aug;63:102829. doi: 10.1016/j.scr.2022.102829. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35728439 Free article.

8

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.

Suleski IS, Smith R, Vo C, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Houweling PJ, Nowak KJ, Laing NG, Taylor RL, Clayton JS. Suleski IS, et al. Stem Cell Res. 2022 Aug;63:102830. doi: 10.1016/j.scr.2022.102830. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35728440 Free article.

9

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.

Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS. Monnier N, et al. Neuromuscul Disord. 2009 Feb;19(2):118-23. doi: 10.1016/j.nmd.2008.11.009. Epub 2009 Jan 19. Neuromuscul Disord. 2009. PMID: 19155175

10

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.

Houweling PJ, Coles CA, Tiong CF, Nielsen B, Graham A, McDonald P, Suter A, Piers AT, Forbes R, Ryan MM, Howden SE, Lamandé SR, North KN. Houweling PJ, et al. Stem Cell Res. 2021 Jul;54:102429. doi: 10.1016/j.scr.2021.102429. Epub 2021 Jun 17. Stem Cell Res. 2021. PMID: 34157503 Free article.

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