Similar articles for PMID: 16648376

Year	Number of Results
1993	1
1998	1
2001	4
2002	1
2003	8
2004	3
2005	15
2006	11
2007	7
2008	10
2009	8
2010	5
2011	13
2012	11
2013	7
2014	4
2015	5
2016	4
2017	7
2018	2
2019	7
2020	2
2021	2
2022	7
2023	3
2024	0

1

Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.

Robinson DO, Wills AJ, Hammans SR, Read SP, Sillibourne J. Robinson DO, et al. J Med Genet. 2006 May;43(5):e23. doi: 10.1136/jmg.2005.037598. J Med Genet. 2006. PMID: 16648376 Free PMC article.

2

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.

Robinson DO, Hammans SR, Read SP, Sillibourne J. Robinson DO, et al. Hum Genet. 2005 Mar;116(4):267-71. doi: 10.1007/s00439-004-1235-2. Epub 2005 Jan 12. Hum Genet. 2005. PMID: 15645184

3

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.

van der Sluijs BM, van Engelen BG, Hoefsloot LH. van der Sluijs BM, et al. Hum Mutat. 2003 May;21(5):553. doi: 10.1002/humu.9138. Hum Mutat. 2003. PMID: 12673802

4

Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.

Robinson DO, Hilton-Jones D, Mansfield D, Hildebrand GD, Marks S, Mechan D, Ramsay J. Robinson DO, et al. Neuromuscul Disord. 2011 Nov;21(11):809-11. doi: 10.1016/j.nmd.2011.06.003. Epub 2011 Jul 13. Neuromuscul Disord. 2011. PMID: 21742497

5

Study of a Taiwanese family with oculopharyngeal muscular dystrophy.

Kuo HC, Chen CM, Lee-Chen GJ, Hu FJ, Chu CC, Liou CW, Huang CC. Kuo HC, et al. J Neurol Sci. 2009 Mar 15;278(1-2):21-4. doi: 10.1016/j.jns.2008.11.001. Epub 2008 Dec 20. J Neurol Sci. 2009. PMID: 19101703

6

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.

Bae JS, Ki CS, Kim JW, Kim BJ. Bae JS, et al. J Clin Neurosci. 2007 Jan;14(1):89-92. doi: 10.1016/j.jocn.2005.12.036. J Clin Neurosci. 2007. PMID: 17138075

7

Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients.

Pulkes T, Papsing C, Busabaratana M, Dejthevaporn C, Witoonpanich R. Pulkes T, et al. J Clin Neurosci. 2011 May;18(5):674-7. doi: 10.1016/j.jocn.2010.08.020. J Clin Neurosci. 2011. PMID: 21316245

8

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.

Nishii YS, Noto YI, Yasuda R, Kitaoji T, Ashida S, Tanaka E, Minami N, Nishino I, Mizuno T. Nishii YS, et al. BMC Neurol. 2021 Jul 5;21(1):265. doi: 10.1186/s12883-021-02300-x. BMC Neurol. 2021. PMID: 34225694 Free PMC article.

9

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.

Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I. Goh KJ, et al. Neuromuscul Disord. 2005 Mar;15(3):262-4. doi: 10.1016/j.nmd.2004.10.016. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725589

10

Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.

Mihaylova V, Müller T, Petrova I, Tournev I, Cherninkova S, Walter MC, Deschauer M. Mihaylova V, et al. J Neurol. 2008 Apr;255(4):609-11. doi: 10.1007/s00415-008-0769-y. Epub 2008 Feb 19. J Neurol. 2008. PMID: 18274805 No abstract available.

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