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Journal Abstract Search

303 related items for PubMed ID: 23317988

  • 1. Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene.
    Dekmezian MS, Tschen JA, Cho-Vega JH.
    J Am Acad Dermatol; 2013 Feb; 68(2):e49-51. PubMed ID: 23317988
    [No Abstract] [Full Text] [Related]

  • 2. Vitreal deposits in Val71Ala transthyretin amyloidosis.
    Suan D, Booth DR, Kennedy IH, Downie J, Earls P, Gottlieb D, Stewart GJ, Lin MW.
    Intern Med J; 2012 Jan; 42(1):106-8. PubMed ID: 22276564
    [No Abstract] [Full Text] [Related]

  • 3. Clinical variant of familial amyloid polyneuropathy.
    Quan D, Cohen JA.
    Muscle Nerve; 2002 Sep; 26(3):417-20. PubMed ID: 12210373
    [Abstract] [Full Text] [Related]

  • 4. Oculoleptomeningeal amyloidosis in a patient with a TTR Val30Gly mutation in the transthyretin gene.
    Roe RH, Fisher Y, Eagle RC, Fine HF, Cunningham ET.
    Ophthalmology; 2007 Nov; 114(11):e33-7. PubMed ID: 17980738
    [Abstract] [Full Text] [Related]

  • 5. Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review.
    Yin J, Xia X, Shi Y, Lu Y, Zhao C, Huang Z, Tian N.
    Amyloid; 2014 Jun; 21(2):140-2. PubMed ID: 24601824
    [No Abstract] [Full Text] [Related]

  • 6. Myopathic phenotype of familial amyloid polyneuropathy with a rare transthyretin variant: ATTR Ala45Asp.
    Misumi Y, Doki T, Ueda M, Obayashi K, Tasaki M, Tamura A, Ando Y.
    Amyloid; 2014 Sep; 21(3):216-7. PubMed ID: 24953234
    [No Abstract] [Full Text] [Related]

  • 7. Rapid detection of wild-type and mutated transthyretins.
    Tasaki M, Ueda M, Obayashi K, Motokawa H, Kinoshita Y, Suenaga G, Yanagisawa A, Toyoshima R, Misumi Y, Masuda T, Yamashita T, Ando Y.
    Ann Clin Biochem; 2016 Jul; 53(Pt 4):508-10. PubMed ID: 26342004
    [Abstract] [Full Text] [Related]

  • 8. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).
    Ikeda K, Kano O, Ito H, Kawase Y, Iwamoto K, Sato R, Sekine T, Nagata R, Nakamura Y, Hirayama T, Iwasaki Y.
    Neurology; 2008 Apr 22; 70(17):1576; author reply 1576-7. PubMed ID: 18427077
    [No Abstract] [Full Text] [Related]

  • 9. First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis.
    Hagenacker T, Brenck J, Kastrup O.
    J Neurol Sci; 2014 Nov 15; 346(1-2):331-2. PubMed ID: 25130926
    [No Abstract] [Full Text] [Related]

  • 10. [A sporadic case of late-onset familial amyloid polyneuropathy type I (transthyretin Met 30-associated familial amyloid polyneuropathy) inborn habitant of Ehime prefecture].
    Harada T, Ishizaki F, Togo M, Yamashita H, Nitta K, Date Y, Nakazato M, Yamamura Y, Nakamura S.
    No To Shinkei; 2002 Jul 15; 54(7):615-9. PubMed ID: 12187722
    [Abstract] [Full Text] [Related]

  • 11. TTR-familial amyloid polyneuropathy--neurological aspects.
    Said G, Planté-Bordeneuve V.
    Amyloid; 2012 Jun 15; 19 Suppl 1():25-7. PubMed ID: 22620963
    [Abstract] [Full Text] [Related]

  • 12. Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay.
    Coelho T, Dispenzieri A, Grogan M, Conceição I, Waddington-Cruz M, Kristen AV, Wixner J, Diemberger I, Gonzalez-Moreno J, Maurer MS, Planté-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Cariou E, González-Duarte A, Glass O, Chapman D, Amass L, THAOS investigators.
    Amyloid; 2023 Dec 15; 30(4):445-448. PubMed ID: 37459334
    [No Abstract] [Full Text] [Related]

  • 13. Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutation.
    Koyama S, Kawanami T, Kurokawa K, Tanji H, Iseki C, Arawaka S, Wada M, Kato T.
    Clin Neurol Neurosurg; 2012 Jul 15; 114(6):707-9. PubMed ID: 22209138
    [No Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. From hypertrophic cardiomyopathy to transthyretin amyloidosis: an unusual case and challenging diagnosis.
    Petkow-Dimitrow P, Rajtar-Salwa R, Holcman K, Kostkiewicz M, Rubiś P.
    Pol Arch Intern Med; 2020 Feb 27; 130(2):153-154. PubMed ID: 31933485
    [No Abstract] [Full Text] [Related]

  • 16. Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.
    Muller KR, Padbury R, Jeffrey GP, Poplawski NK, Thompson P, Tonkin A, Harley HA.
    Liver Transpl; 2010 Apr 27; 16(4):470-3. PubMed ID: 20373457
    [Abstract] [Full Text] [Related]

  • 17. Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis.
    Briani C, Cavallaro T, Ferrari S, Taioli F, Calamelli S, Verga L, Adami F, Fabrizi GM.
    J Neurol; 2012 Oct 27; 259(10):2226-8. PubMed ID: 22580845
    [No Abstract] [Full Text] [Related]

  • 18. Transthyretin-related familial amyloidotic polyneuropathy.
    Ando Y, Nakamura M, Araki S.
    Arch Neurol; 2005 Jul 27; 62(7):1057-62. PubMed ID: 16009758
    [Abstract] [Full Text] [Related]

  • 19. Gene therapy: lessons learned from liver transplantation for transthyretin-amyloidosis.
    Suhr OB, Holmgren G, Lundgren E.
    Liver Transpl; 2004 Dec 27; 10(12):1551-3. PubMed ID: 15558840
    [No Abstract] [Full Text] [Related]

  • 20. Dominant cardiac type of familial amyloidotic polyneuropathy associated with a novel transthyretin variant Thr59Arg.
    Obayashi K, Misumi Y, Watanabe T, Ando T, Akagami T, Tasaki M, Shinriki S, Ueda M, Yamashita T, Hirotani S, Ando Y.
    Muscle Nerve; 2013 Nov 27; 48(5):839-41. PubMed ID: 23836350
    [No Abstract] [Full Text] [Related]

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