| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| João M Beirão, Luciana M Moreira, João C Oliveira, Maria J Menéres, Bernardete B Pessoa, Maria E Matos, Paulo P Costa, Paulo A Torres, Idalina B Beirã. Aqueous humor erythropoietin levels in open-angle glaucoma patients with and without TTR V30M familial amyloid polyneuropathy. Molecular vision. vol 20. 2014-09-30. PMID:25018619. |
aqueous humor erythropoietin levels in open-angle glaucoma patients with and without ttr v30m familial amyloid polyneuropathy. |
2014-09-30 |
2023-08-13 |
Not clear |
| Mitsuharu Ueda, Yukio And. Recent advances in transthyretin amyloidosis therapy. Translational neurodegeneration. vol 3. 2014-09-17. PMID:25228988. |
mutant (mt) forms of transthyretin (ttr) cause the most common type of autosomal-dominant hereditary systemic amyloidosis-familial amyloidotic polyneuropathy (fap). |
2014-09-17 |
2023-08-13 |
Not clear |
| Mitsuharu Ueda, Yukio And. Recent advances in transthyretin amyloidosis therapy. Translational neurodegeneration. vol 3. 2014-09-17. PMID:25228988. |
studies of patients with fap amyloidogenic ttr (attr) val30met documented sensorimotor polyneuropathy, autonomic dysfunction, heart and kidney failure, gastrointestinal tract (gi) disorders, and other symptoms leading to death, usually within 10 years of the onset of disease. |
2014-09-17 |
2023-08-13 |
Not clear |
| P Lozeron, M Théaudin, Z Mincheva, B Ducot, C Lacroix, D Adam. Effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy. European journal of neurology. vol 20. issue 12. 2014-09-03. PMID:23834402. |
the aim of this study was to assess the effect of tafamidis, which slows the progression of early stages of met30 transthyretin (ttr) familial amyloidosis polyneuropathy (fap) in more advanced cases. |
2014-09-03 |
2023-08-12 |
Not clear |
| Miguel Oliveira Santos, Dulce Brit. Severe heart disease in an unusual case of familial amyloid polyneuropathy type I. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology. vol 32. issue 9. 2014-08-25. PMID:23993291. |
severe heart disease in an unusual case of familial amyloid polyneuropathy type i. familial amyloid polyneuropathy type i (fap type i) is a rare hereditary systemic amyloidosis caused by the val30met mutation in the transthyretin (ttr) gene. |
2014-08-25 |
2023-08-12 |
Not clear |
| Masayoshi Tasaki, Mitsuharu Ueda, Konen Obayashi, Haruki Koike, Keisuke Kitagawa, Yasuhiro Ogi, Hirofumi Jono, Yu Su, Genki Suenaga, Toshinori Oshima, Yohei Misumi, Mari Yoshida, Taro Yamashita, Gen Sobue, Yukio And. Effect of age and sex differences on wild-type transthyretin amyloid formation in familial amyloidotic polyneuropathy: a proteomic approach. International journal of cardiology. vol 170. issue 1. 2014-08-12. PMID:24182678. |
however, the effects of these differences on the amyloid formation mechanism in familial amyloid polyneuropathy (fap) caused by variant ttr, have remained unclear. |
2014-08-12 |
2023-08-12 |
Not clear |
| Maike F Dohrn, Christoph Röcken, Jan L De Bleecker, Jean-Jacques Martin, Matthias Vorgerd, Peter Y Van den Bergh, Andreas Ferbert, Katrin Hinderhofer, J Michael Schröder, Joachim Weis, Jörg B Schulz, Kristl G Claey. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. Journal of neurology. vol 260. issue 12. 2014-08-06. PMID:24101130. |
familial amyloid polyneuropathy (fap) is a progressive systemic autosomal dominant disease caused by pathogenic mutations in the transthyretin (ttr) gene. |
2014-08-06 |
2023-08-12 |
Not clear |
| Maike F Dohrn, Christoph Röcken, Jan L De Bleecker, Jean-Jacques Martin, Matthias Vorgerd, Peter Y Van den Bergh, Andreas Ferbert, Katrin Hinderhofer, J Michael Schröder, Joachim Weis, Jörg B Schulz, Kristl G Claey. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. Journal of neurology. vol 260. issue 12. 2014-08-06. PMID:24101130. |
we studied clinical, electrophysiological, histopathological, and genetic characteristics in 15 (13 late-onset and two early-onset) patients belonging to 14 families with polyneuropathy and mutations in ttr. |
2014-08-06 |
2023-08-12 |
Not clear |
| Maike F Dohrn, Christoph Röcken, Jan L De Bleecker, Jean-Jacques Martin, Matthias Vorgerd, Peter Y Van den Bergh, Andreas Ferbert, Katrin Hinderhofer, J Michael Schröder, Joachim Weis, Jörg B Schulz, Kristl G Claey. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. Journal of neurology. vol 260. issue 12. 2014-08-06. PMID:24101130. |
in comparison, we analysed the features of nine unrelated patients with an idiopathic polyneuropathy, in whom ttr mutations have been excluded. |
2014-08-06 |
2023-08-12 |
Not clear |
| T Liu, B Zhang, X Jin, W Wang, J Lee, J Li, H Yuan, X Chen. Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation. Eye (London, England). vol 28. issue 1. 2014-07-23. PMID:24113303. |
ophthalmic manifestations in a chinese family with familial amyloid polyneuropathy due to a ttr gly83arg mutation. |
2014-07-23 |
2023-08-12 |
Not clear |
| T Liu, B Zhang, X Jin, W Wang, J Lee, J Li, H Yuan, X Chen. Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation. Eye (London, England). vol 28. issue 1. 2014-07-23. PMID:24113303. |
to describe the characteristic ophthalmic phenotypes of a large chinese family with familial amyloid polyneuropathy due to a missense mutation in transthyretin (ttr) (c.307 c>g). |
2014-07-23 |
2023-08-12 |
Not clear |
| A Rousseau, G Kaswin, D Adams, C Cauquil, M Théaudin, Z Mincheva, M M'garrech, M Labetoulle, E Barrea. [Ocular involvement in familial amyloid polyneuropathy]. Journal francais d'ophtalmologie. vol 36. issue 9. 2014-07-01. PMID:24144522. |
familial amyloid polyneuropathy (fap) or transthyretin (ttr) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adult onset, which is transmitted as an autosomal dominant trait. |
2014-07-01 |
2023-08-12 |
Not clear |
| Teresa Coelho, Luis F Maia, Ana Martins da Silva, Márcia W Cruz, Violaine Planté-Bordeneuve, Ole B Suhr, Isabel Conceiçao, Hartmut H-J Schmidt, Pedro Trigo, Jeffery W Kelly, Richard Labaudinière, Jason Chan, Jeff Packman, Donna R Groga. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. Journal of neurology. vol 260. issue 11. 2014-06-18. PMID:23974642. |
tafamidis, a transthyretin (ttr) kinetic stabilizer, delayed neuropathic progression in patients with val30met ttr familial amyloid polyneuropathy (ttr-fap) in an 18-month randomized controlled trial (study fx-005). |
2014-06-18 |
2023-08-12 |
Not clear |
| Irit Rappley, Cecília Monteiro, Marta Novais, Aleksandra Baranczak, Gregory Solis, R Luke Wiseman, Stephen Helmke, Mathew S Maurer, Teresa Coelho, Evan T Powers, Jeffery W Kell. Quantification of transthyretin kinetic stability in human plasma using subunit exchange. Biochemistry. vol 53. issue 12. 2014-05-20. PMID:24661308. |
kinetic stabilization of ttr, by preferential binding of a drug to the native tetramer over the dissociative transition state, dramatically slows the progression of familial amyloid polyneuropathy. |
2014-05-20 |
2023-08-12 |
human |
| Mariana Seca, Natália Ferreira, Teresa Coelh. Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient. Case reports in ophthalmology. vol 5. issue 1. 2014-04-21. PMID:24748873. |
vitreous amyloidosis as the presenting symptom of familial amyloid polyneuropathy ttr val30met in a portuguese patient. |
2014-04-21 |
2023-08-13 |
Not clear |
| Marco Luigetti, Amelia Conte, Alessandra Del Grande, Giulia Bisogni, Francesca Madia, Mauro Lo Monaco, Luca Laurenti, Laura Obici, Giampaolo Merlini, Mario Sabatell. TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 34. issue 7. 2014-03-17. PMID:22592564. |
familial amyloid polyneuropathy (fap) is a rare condition caused by mutations of the transthyretin (ttr) gene and it is generally characterized by a length-dependent polyneuropathy affecting prevalently the small fibers. |
2014-03-17 |
2023-08-12 |
Not clear |
| Marco Luigetti, Amelia Conte, Alessandra Del Grande, Giulia Bisogni, Francesca Madia, Mauro Lo Monaco, Luca Laurenti, Laura Obici, Giampaolo Merlini, Mario Sabatell. TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 34. issue 7. 2014-03-17. PMID:22592564. |
clinicians should consider, to avoid misdiagnosis, the screening for ttr mutations in patients presenting with progressive axonal polyneuropathy of undetermined etiology, including apparently sporadic cases with pathological examinations negative for amyloid deposition. |
2014-03-17 |
2023-08-12 |
Not clear |
| Ioannis Petrakis, Vasiliki Mavroeidi, Kostas Stylianou, Eva Andronikidi, Eirini Lioudaki, Kostas Perakis, Spyridon Stratigis, Eleftheria Vardaki, Maria Zafeiri, Kostantinos Giannakakis, Andreas Plaitakis, George Amoiridis, Maria Joao Saraiva, Eugene Daphni. Hsf-1 affects podocyte markers NPHS1, NPHS2 and WT1 in a transgenic mouse model of TTRVal30Met-related amyloidosis. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. vol 20. issue 3. 2014-02-28. PMID:23829269. |
familial amyloid polyneuropathy is characterized by transthyretin (ttr) deposition in various tissues, including the kidneys. |
2014-02-28 |
2023-08-12 |
mouse |
| Konen Obayashi, Mitsuharu Ueda, Toshinori Oshima, Satomi Kawahara, Yohei Misumi, Taro Yamashita, Hirofumi Jono, Masahide Yazaki, Fuyuki Kametani, Shu-ichi Ikeda, Yuki Ohya, Katsuhiro Asonuma, Yukihiro Inomata, Yukio And. Pathological changes long after liver transplantation in a familial amyloidotic polyneuropathy patient. BMJ case reports. vol 2012. 2014-02-21. PMID:22907857. |
liver transplantation (lt) reportedly prolongs the survival of patients with familial amyloidotic polyneuropathy (fap), a fatal hereditary systemic amyloidosis caused by mutant transthyretin (ttr). |
2014-02-21 |
2023-08-12 |
Not clear |
| Takamura Nagasak. Familial amyloidotic polyneuropathy and transthyretin. Sub-cellular biochemistry. vol 65. 2014-02-21. PMID:23225017. |
there has been much progress in our understanding of transthyretin (ttr)-related amyloidosis including familial amyloidotic polyneuropathy (fap), senile systemic amyloidosis and its related disorders from many clinical and experimental aspects. |
2014-02-21 |
2023-08-12 |
Not clear |