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.
2. Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen. Coelho T; Waddington Cruz M; Chao CC; Parman Y; Wixner J; Weiler M; Barroso FA; Dasgupta NR; Jung SW; Schneider E; Viney NJ; Dyck PJB; Ando Y; Gillmore JD; Khella S; Gertz MA; Obici L; Berk JL Neurol Ther; 2023 Feb; 12(1):267-287. PubMed ID: 36525140 [TBL] [Abstract][Full Text] [Related]
3. Management Targeted Genetic Evaluation of an Idiopathic Neuropathy Cohort Through ATTRv Amyloidosis Screening. Fisher KA; Diaz S; Gelblum J; Brock C; Suresh N; Towne M HCA Healthc J Med; 2024; 5(4):405-413. PubMed ID: 39290488 [TBL] [Abstract][Full Text] [Related]
4. Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology. Skrahina V; Grittner U; Beetz C; Skripuletz T; Juenemann M; Krämer HH; Hahn K; Rieth A; Schaechinger V; Patten M; Tanislav C; Achenbach S; Assmus B; Knebel F; Gingele S; Skrahin A; Hartkamp J; Förster TM; Roesner S; Pereira C; Rolfs A Ann Med; 2021 Dec; 53(1):1787-1796. PubMed ID: 34658264 [TBL] [Abstract][Full Text] [Related]
5. Extracellular Vesicles Contribute to the Metabolism of Transthyretin Amyloid in Hereditary Transthyretin Amyloidosis. Yamaguchi H; Kawahara H; Kodera N; Kumaki A; Tada Y; Tang Z; Sakai K; Ono K; Yamada M; Hanayama R Front Mol Biosci; 2022; 9():839917. PubMed ID: 35402512 [TBL] [Abstract][Full Text] [Related]
6. [A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report]. Chumakova OS; Nasonova SN; Frolova YV; Stepanova EA; Mershina EA; Sinitsyn VE; Zateyshchikov DA; Zhirov IV Ter Arkh; 2023 May; 95(4):335-340. PubMed ID: 38158982 [TBL] [Abstract][Full Text] [Related]
8. Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records. Carry BJ; Young K; Fielden S; Kelly MA; Sturm AC; Avila JD; Martin CL; Kirchner HL; Fornwalt BK; Haggerty CM; JACC CardioOncol; 2021 Oct; 3(4):550-561. PubMed ID: 34746851 [TBL] [Abstract][Full Text] [Related]
9. Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant. Ikura H; Kitakata H; Endo J; Moriyama H; Sano M; Tsujikawa H; Sawano M; Masuda T; Ohki T; Ueda M; Kosaki K; Fukuda K Eur J Med Genet; 2022 Mar; 65(3):104451. PubMed ID: 35149236 [TBL] [Abstract][Full Text] [Related]
10. Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria. Pavlova Z; Sarafov S; Todorov T; Kirov A; Chamova T; Gospodinova M; Tournev I; Mitev V; Todorova A Amyloid; 2021 Dec; 28(4):219-225. PubMed ID: 34076545 [TBL] [Abstract][Full Text] [Related]
12. Variant classification changes over time in the clinical molecular diagnostic laboratory setting. Hahn E; Mighton C; Fisher Y; Wong A; Di Gioacchino V; Watkins N; Mayers J; Bombard Y; Charames GS; Lerner-Ellis J J Med Genet; 2024 Jul; 61(8):788-793. PubMed ID: 38806232 [TBL] [Abstract][Full Text] [Related]
13. Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines. So MK; Jeong TD; Lim W; Moon BI; Paik NS; Kim SC; Huh J Breast Cancer; 2019 Jul; 26(4):510-519. PubMed ID: 30725392 [TBL] [Abstract][Full Text] [Related]
14. Prevalence of Lopes LR; Futema M; Akhtar MM; Lorenzini M; Pittman A; Syrris P; Elliott PM Amyloid; 2019 Dec; 26(4):243-247. PubMed ID: 31554435 [No Abstract] [Full Text] [Related]
15. Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy. Falcão de Campos C; Conceição I Drug Healthc Patient Saf; 2023; 15():51-62. PubMed ID: 36824481 [TBL] [Abstract][Full Text] [Related]
16. A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis. Casasnovas C; Lladó L; Borrachero C; Pérez-Santamaría PV; Muñoz-Beamud F; Losada-López IA; Baliellas-Comellas MC; González-Moreno J Ther Adv Neurol Disord; 2023; 16():17562864231191590. PubMed ID: 37655225 [TBL] [Abstract][Full Text] [Related]
17. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay. Hu C; Susswein LR; Roberts ME; Yang H; Marshall ML; Hiraki S; Berkofsky-Fessler W; Gupta S; Shen W; Dunn CA; Huang H; Na J; Domchek SM; Yadav S; Monteiro ANA; Polley EC; Hart SN; Hruska KS; Couch FJ Clin Cancer Res; 2022 Sep; 28(17):3742-3751. PubMed ID: 35736817 [TBL] [Abstract][Full Text] [Related]
18. Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant. Treviño-Herrera AB; Bustamante-Vargas AP; Lisker-Cervantes A; Ríos Y Valles Valles D; Villanueva-Mendoza C; González-Duarte A; Concha-Del-Río LE Ophthalmic Genet; 2022 Jun; 43(3):413-419. PubMed ID: 35038954 [TBL] [Abstract][Full Text] [Related]
19. Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis. Alves-Ferreira M; Azevedo A; Coelho T; Santos D; Sequeiros J; Alonso I; Sousa A; Lemos C Amyloid; 2021 Jun; 28(2):100-106. PubMed ID: 33461327 [TBL] [Abstract][Full Text] [Related]
20. Drug and Gene Therapy for Treating Variant Transthyretin Amyloidosis (ATTRv) Neuropathy. Dardiotis E; Kyriakides T Curr Neuropharmacol; 2023; 21(3):471-481. PubMed ID: 36366846 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]