المؤلفون: Mohammad Amin Karimi, Fatemeh Esmaeilpour Moallem, Mohammad Sadra Gholami Chahkand, Eftekhar Azarm, Mohammad Javad Emami Kazemabad, Parisa Alsadat Dadkhah

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: hereditary amyloidosis, transthyretin-related amyloidosis, Patisiran, Vutrisiran, polyneuropathy, cardiomyopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1465747/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/1ac8b78d72f04c46bad177b6c13cd1c7

المؤلفون: Asuman ARGON, Deniz NART, Funda YILMAZ BARBET

المصدر: Türk Patoloji Dergisi, Vol 40, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: amyloid, cardiac amyloidosis, transthyretin, hereditary amyloidosis, senile amyloidosis, Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://turkjpath.org/pdf.php?id=2051; https://doaj.org/toc/1018-5615; https://doaj.org/toc/1309-5730

URL الوصول: https://doaj.org/article/517f2aad0a7945239c90fdf35a133cd2

المؤلفون: Nicholas S. Hendren, James A. De Lemos, Jarett D. Berry, Julia Kozlitina, Lorena Saelices, Alan X. Ji, Zhili Shao, Chia-Feng Liu, Sonia Garg, Maryjane A. Farr, Mark H. Drazner, W. H. Wilson Tang, Justin L. Grodin

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Pharmacology, Sociology, Science Policy, Biological Sciences not elsewhere classified, Retinol binding protein 4, hereditary amyloidosis, transthyretin amyloidosis, prealbumin, V122I carriers

Relation: https://figshare.com/articles/journal_contribution/Circulating_transthyretin_and_retinol_binding_protein_4_levels_among_middle-age_V122I_i_TTR_i_carriers_in_the_general_population/25351429

الاتاحة: https://doi.org/10.6084/m9.figshare.25351429.v1
https://figshare.com/articles/journal_contribution/Circulating_transthyretin_and_retinol_binding_protein_4_levels_among_middle-age_V122I_i_TTR_i_carriers_in_the_general_population/25351429

المؤلفون: E. I. Safiulina, O. E. Zinovieva, N. S. Shcheglova, V. V. Rameev, Z. V. Surnina, E. N. Nikitina, O. A. Vorobieva

المصدر: Неврология, нейропсихиатрия, психосоматика, Vol 14, Iss 6, Pp 67-72 (2022)

مصطلحات موضوعية: leptomeningeal amyloidosis, transthyretin hereditary amyloidosis, mutation in the transthyretin gene, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nnp.ima-press.net/nnp/article/view/1923; https://doaj.org/toc/2074-2711; https://doaj.org/toc/2310-1342

URL الوصول: https://doaj.org/article/7d08b9bd50d84effb6057a28fa24dce7

المؤلفون: Stefano Tozza, Marco Luigetti, Giovanni Antonini, Anna Mazzeo, Daniele Severi, Andrea Di Paolantonio, Luca Leonardi, Massimo Russo, Angela Romano, Francesca Forcina, Luca Gentile, Maria Nolano, Consalvo Mattia, Fiore Manganelli

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: ATTRv, hereditary amyloidosis, pain, quality of life, transthyretin, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1109782/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/fc9a2d01a08646199d7f8e3d575db67a

المؤلفون: Schmidt, Eeva-Kaisa, Mustonen, Tuuli, Kiuru-Enari, Sari, Kivelä, Tero T., Atula, Sari

المساهمون: Department of Neurosciences, Neurologian yksikkö, HUS Neurocenter, HUS Head and Neck Center, Silmäklinikka

مصطلحات موضوعية: Gelsolin, Amyloidosis, AGel, Hereditary amyloidosis, Meretoja syndrome, Natural history, Lifespan, Relative survival, LATTICE CORNEAL-DYSTROPHY, FAMILIAL AMYLOIDOSIS, RENAL AMYLOIDOSIS, NEPHROTIC SYNDROME, MUTATION, VARIANT, POLYNEUROPATHY, POPULATION, GENE, FAF, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: The study was supported by Helsinki University Hospital. The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.; Schmidt , E-K , Mustonen , T , Kiuru-Enari , S , Kivelä , T T & Atula , S 2020 , ' Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival : FIN-GAR phase II study ' , Orphanet journal of rare diseases , vol. 15 , no. 1 , 19 . https://doi.org/10.1186/s13023-020-1300-5; http://hdl.handle.net/10138/563569; aeaab7de-333a-4d12-be52-1a993d540e88; 000514644200002

الاتاحة: http://hdl.handle.net/10138/563569

المؤلفون: Коробкова, Наталья Викторовна, Зуева, Светлана Алексеевна, Рохленко, Ольга Валерьевна, Мозес, Вадим Гельевич, Рудаева, Елена Владимировна, Елгина, Светлана Ивановна, Мозес, Кира Борисовна, Центер, Яэль, Черных, Наталья Степановна

المصدر: Medicine in Kuzbass; Том 22, № 3 (2023): сентябрь; 75-78 ; Медицина в Кузбассе; Том 22, № 3 (2023): сентябрь; 75-78 ; 2588-0411 ; 1819-0901

مصطلحات موضوعية: TTR gene, hereditary amyloidosis, polyneuropathy, TTR-SAP, transtiretin, ген TTR, наследственный амилоидоз, полинейропатия, ТТР-САП, транстиретин

وصف الملف: text/html; application/pdf

Relation: http://mednauki.ru/index.php/MK/article/view/955/1658; http://mednauki.ru/index.php/MK/article/view/955/1694; http://mednauki.ru/index.php/MK/article/view/955

الاتاحة: http://mednauki.ru/index.php/MK/article/view/955

المؤلفون: V.A. Feitosa, P.D.M.M. Neves, L.B. Jorge, I.L. Noronha, L.F. Onuchic

المصدر: Brazilian Journal of Medical and Biological Research, Vol 55 (2022)

مصطلحات موضوعية: Renal amyloidosis, Amyloid typing, Proteomics, Mass spectrometry, Hereditary amyloidosis, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2022000100307&lng=en&tlng=en; http://www.scielo.br/pdf/bjmbr/v55/1414-431X-bjmbr-55-e12284.pdf; https://doaj.org/toc/1414-431X

URL الوصول: https://doaj.org/article/21e186f0c6da4fe5ba166dcd9f272d75

المؤلفون: Kari Hemminki, Asta Försti

المصدر: Hemato, Vol 2, Iss 3, Pp 429-440 (2021)

مصطلحات موضوعية: incidence, hereditary amyloidosis, periodic fever syndrome, translocation (11, 14), cyclin D1, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2673-6357/2/3/27; https://doaj.org/toc/2673-6357

URL الوصول: https://doaj.org/article/7922cb0a6ce24b1fa8e7adf69e3d97a8

المؤلفون: Ivan Urits, Daniel Swanson, Michael C. Swett, Anjana Patel, Kevin Berardino, Ariunzaya Amgalan, Amnon A. Berger, Hisham Kassem, Alan D. Kaye, Omar Viswanath

المصدر: Neurology and Therapy, Vol 9, Iss 2, Pp 301-315 (2020)

مصطلحات موضوعية: Cardiac amyloidosis, Hereditary amyloidosis, Orphan drugs, Polyneuropathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2193-8253; https://doaj.org/toc/2193-6536

URL الوصول: https://doaj.org/article/d4411de9a7a947deab62328df510341a

المؤلفون: Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan, Daniel Coriu

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Hereditary amyloidosis, Transthyretin amyloidosis, Glu54Gln transthyretin variant, Romania, Cardiomyopathy, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c2b271c673c24582aaa937c8667f0036

المؤلفون: Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä, Sari Atula

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Gelsolin, Amyloidosis, AGel, Hereditary amyloidosis, Meretoja syndrome, Natural history, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1ec4b274c5604c4e8dc6475a521e6a85

المؤلفون: T. A. Adyan, A. V. Polyakov

المصدر: Нервно-мышечные болезни, Vol 9, Iss 4, Pp 12-25 (2020)

مصطلحات موضوعية: ttr gene, ttr-fap, hereditary amyloidosis, transthyretin, polyneuropathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/349; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/8abdfb29333d41d39d05b15bd1912963

المؤلفون: Danyang Li, Dan Liu, Hui Xu, Xiao-juan Yu, Fu-de Zhou, Ming-hui Zhao, Su-xia Wang

المصدر: BMC Nephrology, Vol 20, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Hereditary amyloidosis, Kidney, Mass spectrometry, Gene mutation, Immunohistochemistry, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/1770c9de680a461599d9eaf933b20a94

المؤلفون: A. S. Draganova, A. V. Soboleva, A. E. Ertman, T. A. Galanskaya, E. I. Nikolaychuk, D. V. Ryzhkova, E. A. Polyakova, E. V. Shlyakhto

المصدر: Российский кардиологический журнал, Vol 0, Iss 6, Pp 136-142 (2019)

مصطلحات موضوعية: transthyretin amyloidosis, hereditary amyloidosis, systemic amyloidosis, heart failure, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://russjcardiol.elpub.ru/jour/article/view/3224; https://doaj.org/toc/1560-4071; https://doaj.org/toc/2618-7620

URL الوصول: https://doaj.org/article/0b90a5f80a8b4b649ac598e04b3a83e0

المؤلفون: Alejandra González-Duarte

المصدر: Revista de Investigación Clínica, Vol 73, Iss 5 (2021)

مصطلحات موضوعية: Transthyretin amyloidosis. Hereditary amyloidosis. siRNA. Lipid nanoparticles., Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://www.clinicalandtranslationalinvestigation.com/frame_esp.php?id=400; https://doaj.org/toc/0034-8376; https://doaj.org/toc/2564-8896

URL الوصول: https://doaj.org/article/7c14845efc204c6cb4357703126d3ee4

المؤلفون: Conceição, isabel, González-Duarte, Alejandra, Obici, Laura, Schmidt, Hartmut H-J, Simoneau, Damien, Ong, Moh-Lim, Amass, Leslie

مصطلحات موضوعية: Diagnosis, Hereditary amyloidosis, Transthyretin, Transthyretin familial amyloid neuropathy

Relation: https://onlinelibrary.wiley.com/journal/15298027; J Peripher Nerv Syst. 2016 Mar;21(1):5-9; http://hdl.handle.net/10451/48431

الاتاحة: http://hdl.handle.net/10451/48431
https://doi.org/10.1111/jns.12153

المؤلفون: González-Duarte,Alejandra

المصدر: Revista de investigación clínica v.73 n.5 2021

مصطلحات موضوعية: Transthyretin amyloidosis, Hereditary amyloidosis, siRNA, Lipid nanoparticles

وصف الملف: text/html

الاتاحة: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0034-83762021000500310

المؤلفون: Galan, Lucia, Gonzalez-Moreno, Juan, Martínez-Sesmero, José Manuel, Muñoz-Beamud, Francisco, Santos-Rubio, Maria Dolores, Tran, Diana, Lebeau, Paul, Stewart, Michelle, Mallaina, Pablo, Tarilonte, Patricia, Peral, Carmen, Rozenbaum, Mark H

مصطلحات موضوعية: Hereditary amyloidosis, onpattro, rare disease, tegsedi, treatment cost analysis, vyndaqel, Amyloid Neuropathies, Familial, Benzoxazoles, Cost of Illness, Drug Costs, Health Care Costs, Hospitalization, Humans, Oligonucleotides, RNA, Small Interfering, Spain

Relation: http://hdl.handle.net/10668/17355

الاتاحة: http://hdl.handle.net/10668/17355
https://doi.org/10.1080/14737167.2021.1900738
https://www.tandfonline.com/doi/pdf/10.1080/14737167.2021.1900738?needAccess=true

المؤلفون: Alejandra Gonzalez-Duarte, Alfredo Ulloa-Aguirre

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 23; Pages: 13158

مصطلحات موضوعية: TTR amyloidosis, hereditary amyloidosis, protein misfolding, oligomer toxicity, ATTR variants, wild-type amyloidosis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms222313158

الاتاحة: https://doi.org/10.3390/ijms222313158