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References from PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1055/s-2008-1040826
10.1055/s-2008-1040826 · External reference
10.1136/bjo.2010.200378
10.1136/bjo.2010.200378 · External reference
Recent Progress in Oculopharyngeal Muscular Dystrophy
10.3390/jcm10071375 · 2021 · External reference
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
10.1212/wnl.0000000000003554 · 2017 · External reference
10.1159/000072861
10.1159/000072861 · External reference
10.1016/j.nmd.2006.11.009
10.1016/j.nmd.2006.11.009 · External reference
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling
10.3233/jnd-140060 · 2015 · External reference
10.1038/s41586-018-0579-z
10.1038/s41586-018-0579-z · External reference
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
10.1093/nar/gkq603 · 2010 · External reference
10.1093/bioinformatics/btq559
10.1093/bioinformatics/btq559 · External reference
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population
10.1007/s12017-014-8327-5 · 2014 · External reference
Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation
10.1136/jmg.2005.037598 · 2006 · External reference
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation
10.1016/j.nmd.2011.06.003 · 2011 · External reference
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
10.1111/ene.14131 · 2020 · External reference
A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation
10.1186/s12883-021-02300-x · 2021 · External reference
PABPN1 gene therapy for oculopharyngeal muscular dystrophy
10.1038/ncomms14848 · 2017 · External reference
BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy
10.1016/j.omtn.2021.02.017 · 2021 · External reference
