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Journal Abstract Search

290 related items for PubMed ID: 18460047

  • 1. On the origin of the transthyretin Val30Met familial amyloid polyneuropathy.
    Zaros C, Genin E, Hellman U, Saporta MA, Languille L, Wadington-Cruz M, Suhr O, Misrahi M, Planté-Bordeneuve V.
    Ann Hum Genet; 2008 Jul; 72(Pt 4):478-84. PubMed ID: 18460047
    [Abstract] [Full Text] [Related]

  • 2. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.
    Soares ML, Coelho T, Sousa A, Holmgren G, Saraiva MJ, Kastner DL, Buxbaum JN.
    Eur J Hum Genet; 2004 Mar; 12(3):225-37. PubMed ID: 14673473
    [Abstract] [Full Text] [Related]

  • 3. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
    Dardiotis E, Koutsou P, Zamba-Papanicolaou E, Vonta I, Hadjivassiliou M, Hadjigeorgiou G, Cariolou M, Christodoulou K, Kyriakides T.
    J Neurol Sci; 2009 Sep 15; 284(1-2):158-62. PubMed ID: 19493541
    [Abstract] [Full Text] [Related]

  • 4. [Diagnosis of familial amyloid polyneuropathy type I in Argentina].
    Pérez G, Romero MC, Trigo P, Lendoire J, Imventarza O, Nesse A.
    Medicina (B Aires); 2008 Sep 15; 68(4):273-81. PubMed ID: 18786882
    [Abstract] [Full Text] [Related]

  • 5. TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?
    Bonaïti B, Olsson M, Hellman U, Suhr O, Bonaïti-Pellié C, Planté-Bordeneuve V.
    Eur J Hum Genet; 2010 Aug 15; 18(8):948-52. PubMed ID: 20234390
    [Abstract] [Full Text] [Related]

  • 6. Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy.
    Tojo K, Tsuchiya-Suzuki A, Sekijima Y, Morita H, Sumita N, Ikeda S.
    Amyloid; 2010 Mar 15; 17(1):32-5. PubMed ID: 20132088
    [Abstract] [Full Text] [Related]

  • 7. Wild-type transthyretin significantly contributes to the formation of amyloid fibrils in familial amyloid polyneuropathy patients with amyloidogenic transthyretin Val30Met.
    Tsuchiya-Suzuki A, Yazaki M, Kametani F, Sekijima Y, Ikeda S.
    Hum Pathol; 2011 Feb 15; 42(2):236-43. PubMed ID: 21056899
    [Abstract] [Full Text] [Related]

  • 8. Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy.
    Tojo K, Sekijima Y, Machida K, Tsuchiya A, Yazaki M, Ikeda S.
    Muscle Nerve; 2008 Jun 15; 37(6):796-803. PubMed ID: 18506713
    [Abstract] [Full Text] [Related]

  • 9. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.
    Hellman U, Alarcon F, Lundgren HE, Suhr OB, Bonaiti-Pellié C, Planté-Bordeneuve V.
    Amyloid; 2008 Sep 15; 15(3):181-6. PubMed ID: 18925456
    [Abstract] [Full Text] [Related]

  • 10. Transthyretin familial amyloid polyneuropathy.
    Planté-Bordeneuve V, Kerschen P.
    Handb Clin Neurol; 2013 Sep 15; 115():643-58. PubMed ID: 23931808
    [Abstract] [Full Text] [Related]

  • 11. A Swedish family with the rare Phe33Leu transthyretin mutation.
    Holmgren G, Hellman U, Jonasson J, Lundgren HE, Westermark P, Suhr OB.
    Amyloid; 2005 Sep 15; 12(3):189-92. PubMed ID: 16194875
    [Abstract] [Full Text] [Related]

  • 12. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).
    Planté-Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D, Said G.
    Neurology; 2007 Aug 14; 69(7):693-8. PubMed ID: 17698792
    [Abstract] [Full Text] [Related]

  • 13. Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.
    Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto L, Mauro A, Manfellotto D, Fuciarelli M, Polimanti R.
    Amyloid; 2015 Aug 14; 22(2):73-8. PubMed ID: 25510352
    [Abstract] [Full Text] [Related]

  • 14. Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus.
    Kato-Motozaki Y, Ono K, Shima K, Morinaga A, Machiya T, Nozaki I, Shibata-Hamaguchi A, Furukawa Y, Yanase D, Ishida C, Sakajiri K, Yamada M.
    J Neurol Sci; 2008 Jul 15; 270(1-2):133-40. PubMed ID: 18410945
    [Abstract] [Full Text] [Related]

  • 15. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis.
    Koike H, Hashimoto R, Tomita M, Kawagashira Y, Iijima M, Tanaka F, Sobue G.
    Amyloid; 2011 Jun 15; 18(2):53-62. PubMed ID: 21463231
    [Abstract] [Full Text] [Related]

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  • 17. Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy.
    Ohmori H, Ando Y, Makita Y, Onouchi Y, Nakajima T, Saraiva MJ, Terazaki H, Suhr O, Sobue G, Nakamura M, Yamaizumi M, Munar-Ques M, Inoue I, Uchino M, Hata A.
    J Med Genet; 2004 Apr 15; 41(4):e51. PubMed ID: 15060127
    [No Abstract] [Full Text] [Related]

  • 18. [Application to transthyretin analysis].
    Ueda M, Ando Y.
    Rinsho Byori; 2006 Jun 15; 54(6):601-8. PubMed ID: 16872010
    [Abstract] [Full Text] [Related]

  • 19. [Familial amyloidotic polyneuropathies].
    Vallat JM, Funalot B, Faugeras F, Magy L.
    Bull Acad Natl Med; 2012 Oct 15; 196(7):1321-9; discussion 1329-31. PubMed ID: 23815017
    [Abstract] [Full Text] [Related]

  • 20. Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan.
    Ikeda S, Takei Y, Tokuda T, Nakazato M, Ando Y.
    Amyloid; 2003 Aug 15; 10 Suppl 1():39-47. PubMed ID: 14640041
    [Abstract] [Full Text] [Related]

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