These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 21602480)

  • 1. Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland.
    Agarwal PK; Mansfield DC; Mechan D; Al-Shahi Salman R; Davenport RJ; Connor M; Metcalfe R; Petty R
    Br J Ophthalmol; 2012 Feb; 96(2):281-3. PubMed ID: 21602480
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.
    Bae JS; Ki CS; Kim JW; Kim BJ
    J Clin Neurosci; 2007 Jan; 14(1):89-92. PubMed ID: 17138075
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.
    Van Der Sluijs BM; Hoefsloot LH; Padberg GW; Van Der Maarel SM; Van Engelen BG
    J Neurol; 2003 Nov; 250(11):1307-12. PubMed ID: 14648146
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.
    Luk HM; Lo IF; Fu KH; Lui CH; Tong TM; Chan DH; Lam ST
    Hong Kong Med J; 2013 Dec; 19(6):556-9. PubMed ID: 24310666
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene].
    Pou Serradell A; Lloreta Trull J; Corominas Torres JM; Hammouda EH; Urtizberea JA; Richard P; Brais B
    Neurologia; 2004 Jun; 19(5):239-47. PubMed ID: 15150706
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design.
    Youssof S; Schrader R; Bear D; Morrison L
    Neuromuscul Disord; 2015 Mar; 25(3):238-46. PubMed ID: 25500011
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.
    Lin F; Yang K; Lin MT; Zheng FZ; Chen L; Ding YL; Ye ZX; Lin X; Wang N; Wang ZQ
    Ann Clin Transl Neurol; 2023 Mar; 10(3):426-439. PubMed ID: 36691350
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A study of impairments in oculopharyngeal muscular dystrophy.
    Brisson JD; Gagnon C; Brais B; Côté I; Mathieu J
    Muscle Nerve; 2020 Aug; 62(2):201-207. PubMed ID: 32270505
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.
    Nadaj-Pakleza A; Richard P; Lusakowska A; Gajewska J; Jamrozik Z; Kostera-Pruszczyk A; Kwieciński H; Kamińska A
    Neurol Neurochir Pol; 2009; 43(2):113-20. PubMed ID: 19484687
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].
    Nakashima D; Nakajima H; Ishida S; Sugino M; Kimura F; Hanafusa T
    Rinsho Shinkeigaku; 2003 Sep; 43(9):560-3. PubMed ID: 14727564
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy.
    de Swart BJ; van der Sluijs BM; Vos AM; Kalf JG; Knuijt S; Cruysberg JR; van Engelen BG
    J Neurol Neurosurg Psychiatry; 2006 Feb; 77(2):266-8. PubMed ID: 16421137
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
    Goh KJ; Wong KT; Nishino I; Minami N; Nonaka I
    Neuromuscul Disord; 2005 Mar; 15(3):262-4. PubMed ID: 15725589
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Oculopharyngeal Muscular Dystrophy, an Often Misdiagnosed Neuromuscular Disorder: A Southern California Experience.
    Goyal NA; Mozaffar T; Chui LA
    J Clin Neuromuscul Dis; 2019 Dec; 21(2):61-68. PubMed ID: 31743248
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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
    J Neurol; 2008 Apr; 255(4):609-11. PubMed ID: 18274805
    [No Abstract]   [Full Text] [Related]  

  • 20. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.
    Davies JE; Wang L; Garcia-Oroz L; Cook LJ; Vacher C; O'Donovan DG; Rubinsztein DC
    Nat Med; 2005 Jun; 11(6):672-7. PubMed ID: 15864313
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.