225 related articles for article (PubMed ID: 27980005)
1. Characterization of
Cruz-Aguilar M; Guerrero-de Ferran C; Tovilla-Canales JL; Nava-Castañeda A; Zenteno JC
J Investig Med; 2017 Mar; 65(3):705-708. PubMed ID: 27980005
[TBL] [Abstract][Full Text] [Related]
2. Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.
Rivera D; Mejia-Lopez H; Pompa-Mera EN; Villanueva-Mendoza C; Nava-Castañeda A; Garnica-Hayashi L; Cuevas-Covarrubias S; Zenteno JC
Br J Ophthalmol; 2008 Jul; 92(7):998-1002. PubMed ID: 18577654
[TBL] [Abstract][Full Text] [Related]
3. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
Richard P; Trollet C; Stojkovic T; de Becdelievre A; Perie S; Pouget J; Eymard B;
Neurology; 2017 Jan; 88(4):359-365. PubMed ID: 28011929
[TBL] [Abstract][Full Text] [Related]
4. A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.
Gürtler N; Plasilova M; Podvinec M; Boesch N; Müller H; Heinimann K
Laryngoscope; 2006 Jan; 116(1):111-4. PubMed ID: 16481821
[TBL] [Abstract][Full Text] [Related]
5. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
van der Sluijs BM; van Engelen BG; Hoefsloot LH
Hum Mutat; 2003 May; 21(5):553. PubMed ID: 12673802
[TBL] [Abstract][Full Text] [Related]
6. Study of a Taiwanese family with oculopharyngeal muscular dystrophy.
Kuo HC; Chen CM; Lee-Chen GJ; Hu FJ; Chu CC; Liou CW; Huang CC
J Neurol Sci; 2009 Mar; 278(1-2):21-4. PubMed ID: 19101703
[TBL] [Abstract][Full Text] [Related]
7. Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1.
García-Castañeda M; Vega AV; Rodríguez R; Montiel-Jaen MG; Cisneros B; Zarain-Herzberg A; Avila G
J Physiol; 2017 Jul; 595(13):4167-4187. PubMed ID: 28303574
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.
Alonso-Pérez J; de León Hernández JC; Pérez-Pérez H; Mendoza-Grimón MD; Gutierrez-Martinez AJ; Hadjigeorgiou I; Montón-Álvarez F; González-Quereda L; Alonso-Jimenez A; Suárez-Calvet X; Díaz-Manera J
Eur J Neurol; 2022 May; 29(5):1488-1495. PubMed ID: 35112761
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy.
Doki T; Yamashita S; Wei FY; Hara K; Yamamoto T; Zhang Z; Zhang X; Tawara N; Hino H; Uyama E; Kurashige T; Maruyama H; Tomizawa K; Ando Y
Lab Invest; 2019 Nov; 99(11):1728-1740. PubMed ID: 30894671
[TBL] [Abstract][Full Text] [Related]
10. Proteomic analysis reveals that wildtype and alanine-expanded nuclear poly(A)-binding protein exhibit differential interactions in skeletal muscle.
Banerjee A; Phillips BL; Deng Q; Seyfried NT; Pavlath GK; Vest KE; Corbett AH
J Biol Chem; 2019 May; 294(18):7360-7376. PubMed ID: 30837270
[TBL] [Abstract][Full Text] [Related]
11. 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
BMC Neurol; 2021 Jul; 21(1):265. PubMed ID: 34225694
[TBL] [Abstract][Full Text] [Related]
12. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.
Shan J; Chen B; Lin P; Li D; Luo Y; Ji K; Zheng J; Yuan Y; Yan C
Neuromolecular Med; 2014 Dec; 16(4):782-6. PubMed ID: 25283883
[TBL] [Abstract][Full Text] [Related]
13. Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.
van der Sluijs BM; Raz V; Lammens M; van den Heuvel LP; Voermans NC; van Engelen BG
J Neuromuscul Dis; 2016 Mar; 3(1):101-109. PubMed ID: 27854203
[TBL] [Abstract][Full Text] [Related]
14. 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
Hum Genet; 2005 Mar; 116(4):267-71. PubMed ID: 15645184
[TBL] [Abstract][Full Text] [Related]
15. Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
Braverman I; Blumen SC; Newman H; Rizel L; Khayat M; Hanna R; St Guily JL; Tiosano B; Ben-Yosef T
Genet Test Mol Biomarkers; 2017 Jul; 21(7):450-453. PubMed ID: 28590779
[TBL] [Abstract][Full Text] [Related]
16. Oculopharyngeal muscular dystrophy--a genetically verified taiwanese family.
Huang CL; Wu SL; Lai SC; Lu CS; Wu-Chou YH
Chang Gung Med J; 2010; 33(1):44-50. PubMed ID: 20184794
[TBL] [Abstract][Full Text] [Related]
17. 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
J Med Genet; 2006 May; 43(5):e23. PubMed ID: 16648376
[TBL] [Abstract][Full Text] [Related]
18. PABPN1 gene therapy for oculopharyngeal muscular dystrophy.
Malerba A; Klein P; Bachtarzi H; Jarmin SA; Cordova G; Ferry A; Strings V; Espinoza MP; Mamchaoui K; Blumen SC; St Guily JL; Mouly V; Graham M; Butler-Browne G; Suhy DA; Trollet C; Dickson G
Nat Commun; 2017 Mar; 8():14848. PubMed ID: 28361972
[TBL] [Abstract][Full Text] [Related]
19. A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging.
Anvar SY; Raz Y; Verway N; van der Sluijs B; Venema A; Goeman JJ; Vissing J; van der Maarel SM; 't Hoen PA; van Engelen BG; Raz V
Aging (Albany NY); 2013 Jun; 5(6):412-26. PubMed ID: 23793615
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
