Similar articles for PMID: 30454682

Year	Number of Results
1965	1
2000	1
2002	1
2003	5
2004	7
2005	7
2006	9
2007	6
2008	10
2009	4
2010	6
2011	8
2012	7
2013	9
2014	7
2015	2
2016	5
2017	7
2018	4
2019	5
2020	5
2021	10
2022	6
2023	4
2024	0

1

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.

Hu P, Yuan L, Deng H. Hu P, et al. Mutat Res Rev Mutat Res. 2018 Oct-Dec;778:45-50. doi: 10.1016/j.mrrev.2018.09.002. Epub 2018 Sep 12. Mutat Res Rev Mutat Res. 2018. PMID: 30454682 Review.

2

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Geis T, et al. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. Orphanet J Rare Dis. 2019. PMID: 31311558 Free PMC article.

3

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr. Wallace SE, et al. Neuromuscul Disord. 2014 Apr;24(4):312-20. doi: 10.1016/j.nmd.2014.01.001. Epub 2014 Jan 11. Neuromuscul Disord. 2014. PMID: 24491487 Free PMC article.

4

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H. Hu P, et al. J Cell Mol Med. 2017 Jul;21(7):1388-1393. doi: 10.1111/jcmm.13068. Epub 2017 Feb 3. J Cell Mol Med. 2017. PMID: 28157257 Free PMC article.

5

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H. van Reeuwijk J, et al. Hum Mutat. 2006 May;27(5):453-9. doi: 10.1002/humu.20313. Hum Mutat. 2006. PMID: 16575835

6

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.

Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D. Hafner P, et al. Neuromuscul Disord. 2014 Apr;24(4):321-4. doi: 10.1016/j.nmd.2014.01.009. Epub 2014 Jan 28. Neuromuscul Disord. 2014. PMID: 24556424

7

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S. Lommel M, et al. Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6. Neurology. 2010. PMID: 20065251

8

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Godfrey C, et al. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18. Brain. 2007. PMID: 17878207

9

Expanding the clinical spectrum of POMT1 phenotype.

D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220

10

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL. Martinez HR, et al. Eur J Hum Genet. 2014 Apr;22(4):486-91. doi: 10.1038/ejhg.2013.165. Epub 2013 Sep 4. Eur J Hum Genet. 2014. PMID: 24002165 Free PMC article.

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