BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

341 related articles for article (PubMed ID: 18358598)

  • 1. A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP).
    Marsh EA; Robinson DO
    Clin Neurol Neurosurg; 2008 May; 110(5):525-8. PubMed ID: 18358598
    [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. Variability of the recessive oculopharyngeal muscular dystrophy phenotype.
    Semmler A; Kress W; Vielhaber S; Schröder R; Kornblum C
    Muscle Nerve; 2007 May; 35(5):681-4. PubMed ID: 17206657
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. [Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
    Pou Serradell A; Monells J; Téllez MJ; Fossas P; Löfgren A; Meuleman J; Timmerman V; De Jonghe P; Ceuterick C; Martin JJ
    Rev Neurol (Paris); 2002 May; 158(5 Pt 1):579-88. PubMed ID: 12072826
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Siblings with recessive oculopharyngeal muscular dystrophy.
    Hebbar S; Webberley MJ; Lunt P; Robinson DO
    Neuromuscul Disord; 2007 Mar; 17(3):254-7. PubMed ID: 17296297
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. [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]  

  • 10. [Hereditary neuropathy with liability to pressure palsies].
    Smith TA; Rasmussen K; Hertz JM
    Ugeskr Laeger; 1999 Jun; 161(23):3463-5. PubMed ID: 10388355
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [A case of hereditary neuropathy with liability to pressure palsies (HNPP) with diabetes mellitus].
    Yasuda T; Hakusui S; Ando T; Yanagi T; Yamamoto M; Sobue G
    No To Shinkei; 1996 Aug; 48(8):747-51. PubMed ID: 8797209
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: lack of evidence for an associated peripheral neuropathy.
    Jones LK; Harper CM
    Clin Neurophysiol; 2010 Jun; 121(6):870-3. PubMed ID: 20181517
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder.
    Davies JE; Berger Z; Rubinsztein DC
    Int J Biochem Cell Biol; 2006; 38(9):1457-62. PubMed ID: 16530457
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Oculopharyngeal muscular dystrophy.
    Brais B; Rouleau GA; Bouchard JP; Fardeau M; Tomé FM
    Semin Neurol; 1999; 19(1):59-66. PubMed ID: 10711989
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
    Muglia M; Patitucci A; Rizzi R; Ungaro C; Conforti FL; Gabriele AL; Magariello A; Mazzei R; Motti L; Sabadini R; Sprovieri T; Marcello N; Quattrone A
    J Neurol Sci; 2007 Dec; 263(1-2):194-7. PubMed ID: 17707409
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies.
    Koc F; Güzel R; Benlidayi IC; Yerdelen D; Güzel I; Sarica Y
    J Clin Rheumatol; 2006 Apr; 12(2):78-82. PubMed ID: 16601541
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy.
    Lane JE; Foulkes GD; Hope TD; Mayorov VI; Adkison L
    J Hand Surg Am; 2001 Jul; 26(4):670-4. PubMed ID: 11466642
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.