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Items: 1 to 20 of 104

1.

Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan.

Chao HC, Liao YC, Liu YT, Guo YC, Chang FP, Lee YC, Lin KP.

Ann Clin Transl Neurol. 2019 Apr 9;6(5):913-922. doi: 10.1002/acn3.778. eCollection 2019 May.

2.

Hereditary Transthyretin Amyloidosis.

Sekijima Y.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Nov 5 [updated 2018 Dec 20].

3.

Phenotypic expressions of hereditary Transthyretin Ala97Ser related Amyloidosis (ATTR) in Taiwanese.

Hsu HC, Liao MF, Hsu JL, Lo AL, Kuo HC, Lyu RK, Wu VC, Wang CW, Ro LS.

BMC Neurol. 2017 Sep 7;17(1):178. doi: 10.1186/s12883-017-0957-4.

4.

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis.

Hsu HC, Liao MF, Hsu JL, Lee YL, Ro LS.

J Vis Exp. 2018 Jun 9;(136). doi: 10.3791/57743.

PMID:
29939164
5.

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.

Carr AS, Pelayo-Negro AL, Evans MR, Laurà M, Blake J, Stancanelli C, Iodice V, Wechalekar AD, Whelan CJ, Gillmore JD, Hawkins PN, Reilly MM.

J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):620-7. doi: 10.1136/jnnp-2015-310907. Epub 2015 Aug 4.

PMID:
26243339
6.

Identification of Transthyretin Cardiac Amyloidosis Using Serum Retinol-Binding Protein 4 and a Clinical Prediction Model.

Arvanitis M, Koch CM, Chan GG, Torres-Arancivia C, LaValley MP, Jacobson DR, Berk JL, Connors LH, Ruberg FL.

JAMA Cardiol. 2017 Mar 1;2(3):305-313. doi: 10.1001/jamacardio.2016.5864.

7.

Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.

Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S.

Amyloid. 1999 Dec;6(4):282-8.

PMID:
10611950
8.

Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles.

Norgren N, Hellman U, Ericzon BG, Olsson M, Suhr OB.

PLoS One. 2012;7(11):e49981. doi: 10.1371/journal.pone.0049981. Epub 2012 Nov 19.

9.

Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.

Sekijima Y.

J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):1036-43. doi: 10.1136/jnnp-2014-308724. Epub 2015 Jan 20. Review.

PMID:
25604431
10.

Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.

Jang MA, Lee GY, Kim K, Kim SJ, Kim JS, Lee SY, Kim HJ, Jeon ES.

Ann Hum Genet. 2015 Mar;79(2):99-107. doi: 10.1111/ahg.12101. Epub 2015 Jan 23.

11.

A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient.

Wong CW, Ng WY, So KL, Chan YH, Yip SF, Mak CM.

J Cardiol Cases. 2018 Oct 22;18(6):185-188. doi: 10.1016/j.jccase.2018.07.011. eCollection 2018 Dec.

12.

Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.

Yamashita T, Ueda M, Misumi Y, Masuda T, Nomura T, Tasaki M, Takamatsu K, Sasada K, Obayashi K, Matsui H, Ando Y.

J Neurol. 2018 Jan;265(1):134-140. doi: 10.1007/s00415-017-8640-7. Epub 2017 Nov 24.

PMID:
29177547
13.

Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis.

Connors LH, Prokaeva T, Lim A, Théberge R, Falk RH, Doros G, Berg A, Costello CE, O'Hara C, Seldin DC, Skinner M.

Am Heart J. 2009 Oct;158(4):607-14. doi: 10.1016/j.ahj.2009.08.006.

PMID:
19781421
14.

Recent advances in transthyretin amyloidosis therapy.

Ueda M, Ando Y.

Transl Neurodegener. 2014 Sep 13;3:19. doi: 10.1186/2047-9158-3-19. eCollection 2014. Review.

15.

Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y.

Orphanet J Rare Dis. 2018 Jan 17;13(1):6. doi: 10.1186/s13023-017-0726-x. Review. Erratum in: Orphanet J Rare Dis. 2019 May 21;14(1):111.

16.

Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).

Klaassen SHC, Lemmink HH, Bijzet J, Glaudemans AWJM, Bos R, Plattel W, van den Berg MP, Slart RHJA, Nienhuis HLA, van Veldhuisen DJ, Hazenberg BPC.

Cardiovasc Pathol. 2017 Jul - Aug;29:19-22. doi: 10.1016/j.carpath.2017.04.002. Epub 2017 Apr 18.

17.

Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.

Liu YT, Lee YC, Yang CC, Chen ML, Lin KP.

J Neurol Sci. 2008 Apr 15;267(1-2):91-9. Epub 2007 Nov 26.

PMID:
18022643
18.

Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan.

Hsieh ST.

Acta Neurol Taiwan. 2011 Jun;20(2):155-60. Review.

PMID:
21739396
19.

Diagnostic and Treatment Approaches Involving Transthyretin in Amyloidogenic Diseases.

Park GY, Jamerlan A, Shim KH, An SSA.

Int J Mol Sci. 2019 Jun 18;20(12). pii: E2982. doi: 10.3390/ijms20122982. Review.

20.

(99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis.

Pilebro B, Suhr OB, Näslund U, Westermark P, Lindqvist P, Sundström T.

Ups J Med Sci. 2016;121(1):17-24. doi: 10.3109/03009734.2015.1122687. Epub 2016 Feb 5.

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