PubMed (GeneRIF) for id: 6442

Year	Number of Results
2004	1
2006	1
2007	1
2008	2
2009	1
2010	2
2011	5
2013	1
2014	2
2016	2
2017	1
2018	1
2021	1
2024	0

1

Base editing repairs an SGCA mutation in human primary muscle stem cells.

Escobar H, Krause A, Keiper S, Kieshauer J, Müthel S, de Paredes MG, Metzler E, Kühn R, Heyd F, Spuler S. Escobar H, et al. JCI Insight. 2021 May 24;6(10):e145994. doi: 10.1172/jci.insight.145994. JCI Insight. 2021. PMID: 33848270 Free PMC article.

2

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.

Cantero D, Hernández-Laín A, Martínez JFG, Pérez MR, Ruano Y, Lleixà C, Gallardo E, Domínguez-González C. Cantero D, et al. J Neurol Sci. 2018 Nov 15;394:63-67. doi: 10.1016/j.jns.2018.08.026. Epub 2018 Sep 5. J Neurol Sci. 2018. PMID: 30218921

3

GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.

Sanders AE, Jain D, Sofer T, Kerr KF, Laurie CC, Shaffer JR, Marazita ML, Kaste LM, Slade GD, Fillingim RB, Ohrbach R, Maixner W, Kocher T, Bernhardt O, Teumer A, Schwahn C, Sipilä K, Lähdesmäki R, Männikkö M, Pesonen P, Järvelin M, Rizzatti-Barbosa CM, Meloto CB, Ribeiro-Dasilva M, Diatchenko L, Serrano P, Smith SB. Sanders AE, et al. J Dent Res. 2017 Mar;96(3):277-284. doi: 10.1177/0022034516686562. Epub 2017 Jan 12. J Dent Res. 2017. PMID: 28081371 Free PMC article.

4

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.

Liang WC, Chou PC, Hung CC, Su YN, Kan TM, Chen WZ, Hayashi YK, Nishino I, Jong YJ. Liang WC, et al. J Neurol Sci. 2016 Mar 15;362:304-8. doi: 10.1016/j.jns.2016.02.002. Epub 2016 Feb 2. J Neurol Sci. 2016. PMID: 26944168

5

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB. Reddy HM, et al. Muscle Nerve. 2016 Oct;54(4):690-5. doi: 10.1002/mus.25094. Epub 2016 Aug 24. Muscle Nerve. 2016. PMID: 26934379 Free PMC article.

6

B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.

Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L. Praissman JL, et al. Elife. 2014 Oct 3;3:e03943. doi: 10.7554/eLife.03943. Elife. 2014. PMID: 25279697 Free PMC article.

7

Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.

Bianchini E, Fanin M, Mamchaoui K, Betto R, Sandonà D. Bianchini E, et al. Hum Mol Genet. 2014 Jul 15;23(14):3746-58. doi: 10.1093/hmg/ddu088. Epub 2014 Feb 23. Hum Mol Genet. 2014. PMID: 24565866 Free PMC article.

8

[A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy].

Pinel-González A, Montero-Escribano P, Aladro Y, Gil-Fournier B, Ramiro-León S. Pinel-González A, et al. Rev Neurol. 2013 Jun 1;56(11):590-1. Rev Neurol. 2013. PMID: 23703062 Free article. Spanish.

9

The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.

Babameto-Laku A, Tabaku M, Tashko V, Cikuli M, Mokini V. Babameto-Laku A, et al. Genet Couns. 2011;22(4):377-83. Genet Couns. 2011. PMID: 22303798

10

Loss of dystroglycan function in oesophageal cancer.

Parberry-Clark C, Bury JP, Cross SS, Winder SJ. Parberry-Clark C, et al. Histopathology. 2011 Aug;59(2):180-7. doi: 10.1111/j.1365-2559.2011.03930.x. Histopathology. 2011. PMID: 21884196

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