المؤلفون: Yu. A. Shpilyukova, A. O. Protopopova, N. Yu. Abramycheva, E. Yu. Fedotova, S. N. Illarioshkin, Ю. А. Шпилюкова, А. О. Протопопова, Н. Ю. Абрамычева, Е. Ю. Федотова, С. Н. Иллариошкин

المصدر: Neurology, Neuropsychiatry, Psychosomatics; Vol 15, No 2 (2023); 63-67 ; Неврология, нейропсихиатрия, психосоматика; Vol 15, No 2 (2023); 63-67 ; 2310-1342 ; 2074-2711 ; 10.14412/2074-2711-2023-2

مصطلحات موضوعية: болезнь Крейтцфельдта–Якоба, Alzheimer's disease, PSEN1, Creutzfeldt–Jakob disease, болезнь Альцгеймера

وصف الملف: application/pdf

العلاقة: https://nnp.ima-press.net/nnp/article/view/1996/1514Test; Day GS. Rapidly Progressive Dementia. Continuum (Minneap Minn). 2022 Jun 1;28(3): 901-36. doi:10.1212/CON.0000000000001089; Day GS, Tang-Wai DF. When dementia progresses quickly: a practical approach to the diagnosis and management of rapidly progressive dementia. Neurodegener Dis Manag. 2014;4(1):41-56. doi:10.2217/nmt.13.75; Zerr I, Kallenberg K, Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009 Oct;132(Pt 10):2659-68. doi:10.1093/brain/awp191. Epub 2009 Sep 22. Erratum in: Brain. 2012 Apr;135(Pt 4):1335.; Hermann P, Laux M, Glatzel M, et al. Validation and utilization of amended diagnostic criteria in Creutzfeldt-Jakob disease surveillance. Neurology. 2018 Jul 24;91(4):e331-e338. doi:10.1212/WNL.0000000000005860. Epub 2018 Jun 22.; Karch CM, Goate AM. Alzheimer's disease risk genes and mechanisms of disease pathogenesis. Biol Psychiatry. 2015 Jan 1;77(1):43-51. doi:10.1016/j.biopsych.2014.05.006. Epub 2014 May 17.; Pilotto A, Padovani A, Borroni B. Clinical, biological, and imaging features of monogenic Alzheimer’s Disease. Biomed Res Int. 2013;2013:689591. doi:10.1155/2013/689591. Epub 2013 Nov 27.; Keller L, Welander H, Chiang HH, et al. The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions. Eur J Hum Genet. 2010 Nov;18(11):1202-8. doi:10.1038/ejhg.2010.107. Epub 2010 Jul 14.; Heckmann JM, Low WC, de Villiers C, et al. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer’s disease. Brain. 2004 Jan;127(Pt 1):133-42. doi:10.1093/brain/awh009. Epub 2003 Oct 21.; Cruts M, Backhovens H, Wang SY, et al. Molecular genetic analysis of familial earlyonset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet. 1995 Dec;4(12):2363-71. doi:10.1093/hmg/4.12.2363; Cruts M, Van Broeckhoven C. Molecular genetics of Alzheimer’s disease. Ann Med. 1998 Dec;30(6):560-5. doi:10.3109/07853899809002605; Blauwendraat C, Pletnikova O, Geiger JT, et al. Genetic analysis of neurodegenerative diseases in a pathology cohort. Neurobiol Aging. 2019 Apr;76:214.e1-214.e9. doi:10.1016/j.neurobiolaging.2018.11.007. Epub 2018 Nov 17.; Martin JJ, Gheuens J, Bruyland M, et al. Early-onset Alzheimer‘s disease in 2 large Belgian families. Neurology. 1991 Jan;41(1):62-8. doi:10.1212/wnl.41.1.62; Arango D, Cruts M, Torres O, et al. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet. 2001 Oct 1;103(2):138-43. doi:10.1002/1096-8628(20011001)103:23.0.co;2-8; Rogaeva EA, Fafel KC, Song YQ, et al. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. doi:10.1212/wnl.57.4.621; Arai N, Kishino A, Takahashi Y, et al. Familial cases presenting very early onset autosomal dominant Alzheimer’s disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation. Neurogenetics. 2008 Feb;9(1):65-7. doi:10.1007/s10048-007-0104-2. Epub 2007 Oct 30.; Sun X, Chen WD, Wang YD. β-Amyloid: the key peptide in the pathogenesis of Alzheimer’s disease. Front Pharmacol. 2015 Sep 30;6:221. doi:10.3389/fphar.2015.00221; Li N, Liu K, Qiu Y, et al. Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. Front Aging Neurosci. 2016 Mar 11;8:51. doi:10.3389/fnagi.2016.00051; Fernandez MA, Klutkowski JA, Freret T, Wolfe MS. Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid β-peptides (Aβ) by γ-secretase to increase 42-to-40-residue Aβ. J Biol Chem. 2014 Nov 7;289(45):31043-52. doi:10.1074/jbc.M114.581165. Epub 2014 Sep 19.; Chow VW, Mattson MP, Wong PC, Gleichmann M. An overview of APP processing enzymes and products. Neuromolecular Med. 2010 Mar;12(1):1-12. doi:10.1007/s12017-009-8104-z; Kretner B, Fukumori A, Gutsmiedl A, et al. Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds. J Biol Chem. 2011 Apr 29;286(17):15240-51. doi:10.1074/jbc.M110.213587. Epub 2011 Feb 25.; Lanoiselee HM, Nicolas G, Wallon D, et al; collaborators of the CNR-MAJ project. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PLoS Med. 2017 Mar 28;14(3):e1002270. doi:10.1371/journal.pmed.1002270; Reiman EM, Quiroz YT, Fleisher AS, et al. Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study. Lancet Neurol. 2012 Dec;11(12):1048-56. doi:10.1016/S1474-4422(12)70228-4. Epub 2012 Nov 6.; Jack CR Jr, Bennett DA, Blennow K, et al; Contributors. NIA-AA Research Framework: Toward a biological definition of Alzheimer‘s disease. Alzheimers Dement. 2018 Apr;14(4):535-62. doi:10.1016/j.jalz.2018.02.018; Dubois B, Villain N, Frisoni GB, et al. Clinical diagnosis of Alzheimer's disease: recommendations of the International Working Group. Lancet Neurol. 2021 Jun;20(6):484-96. doi:10.1016/S1474-4422(21)00066-1. Epub 2021 Apr 29.; https://nnp.ima-press.net/nnp/article/view/1996Test

الإتاحة: https://doi.org/10.14412/2074-2711-2023-2-63-67Test
https://doi.org/10.14412/2074-2711-2023-2Test
https://doi.org/10.1212/CON.0000000000001089Test
https://doi.org/10.2217/nmt.13.75Test
https://doi.org/10.1093/brain/awp191Test
https://doi.org/10.1212/WNL.0000000000005860Test
https://doi.org/10.1016/j.biopsych.2014.05.006Test
https://doi.org/10.1155/2013/689591Test
https://doi.org/10.1038/ejhg.2010.107Test
https://doi.org/10.1093/brain/awh009Test

المؤلفون: Yuliya A. Shpilyukova, Ekaterina Yu. Fedotova, Sergey N. Illarioshkin

المصدر: Анналы клинической и экспериментальной неврологии, Vol 16, Iss 1, Pp 64-70 (2022)

مصطلحات موضوعية: corticobasal syndrome, corticobasal degeneration, creutzfeldt-jakob disease, alzheimer's disease, four-repeat tauopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://annaly-nevrologii.com/journal/pathID/article/viewFile/836/625Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test

الوصول الحر: https://doaj.org/article/04d90e0321e54213837168d530e8629fTest

المؤلفون: D. S. Kan’shina, I. V. Okuneva, A. V. Vakhlyaev, O. Yu. Bronov

المصدر: Эпилепсия и пароксизмальные состояния, Vol 13, Iss 2, Pp 124-131 (2021)

مصطلحات موضوعية: periodic discharges of three-phase morphology, antiepileptic drugs, electroencephalography in critically ill patients, creutzfeldt–jakob disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.epilepsia.su/jour/article/view/691Test; https://doaj.org/toc/2077-8333Test; https://doaj.org/toc/2311-4088Test

الوصول الحر: https://doaj.org/article/8850c7c56aa54238a9e7c509fe3e0605Test

المؤلفون: T. E. Popova, A. A. Tappakhov, T. K. Davydova, T. Ya. Nikolaeva, Yu. I. Khabarova, M. A. Varlamova, L. T. Okoneshinova

المصدر: Неврология, нейропсихиатрия, психосоматика, Vol 12, Iss 2, Pp 86-91 (2020)

مصطلحات موضوعية: prion diseases, creutzfeldt–jakob disease, dementia, myoclonus, spongiform encephalopathies, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://nnp.ima-press.net/nnp/article/view/1310Test; https://doaj.org/toc/2074-2711Test; https://doaj.org/toc/2310-1342Test

الوصول الحر: https://doaj.org/article/801316aa23d948f58cbc0c19c0cf3cc8Test

المؤلفون: Natalya V. Shuleshova, Aleksey V. Sizov, Irina V. Kupriianova, Victoria V. Zvereva

المصدر: Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, Vol 26, Iss 1, Pp 61-67 (2019)

مصطلحات موضوعية: primary progressive aphasia, creutzfeldt-jakob disease, mri changes, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.sci-notes.ru/jour/article/view/546Test; https://doaj.org/toc/1607-4181Test

الوصول الحر: https://doaj.org/article/244109fdb4f04dd68ddfc23d51985f1cTest

المؤلفون: A. V. Peresedova, I. A. Zavalishin

المصدر: Анналы клинической и экспериментальной неврологии, Vol 6, Iss 1, Pp 57-63 (2017)

مصطلحات موضوعية: creutzfeldt-jakob disease, prion, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://annaly-nevrologii.com/journal/pathID/article/viewFile/278/344Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test

الوصول الحر: https://doaj.org/article/b9548b2fc2d9481b911bebb94777c3efTest

المؤلفون: A. V. Peresedova, N. I. Stoida, V. V. Gnezdizky, R. N. Konоvаlоv, O. S. Kоrеpina, I. A. Zavalishin

المصدر: Анналы клинической и экспериментальной неврологии, Vol 5, Iss 4, Pp 52-56 (2017)

مصطلحات موضوعية: sporadic creutzfeldt-jakob disease, diagnostic criteria, prion, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://annaly-nevrologii.com/journal/pathID/article/viewFile/288/196Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test

الوصول الحر: https://doaj.org/article/f787db629b1f45c68349ff2ae05b906aTest

مصطلحات موضوعية: CJD encephalopathy, прионы, transmissible spongiform, prionlar, Kreytsfeld-Yakob xəstəliyi, болезнь Крейтцфельдта-Якоба, prions, süngərşəkilli ensefalopatiya xəstəliyi, БКЯ, Creutzfeldt-Jakob disease, губчатая энцефалопатия

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31300b30e87fb44a998cfebc10f5fde8Test

المؤلفون: Bagaeva, Yu. S., Toporkova, M. G., Volkova, L. I., Багаева, Ю. С., Топоркова, М. Г., Волкова, Л. И.

مصطلحات موضوعية: SPORADIC CREUTZFELDT-JAKOB DISEASE, DIAGNOSTIC CRITERIA, PRION, СПОРАДИЧЕСКАЯ БОЛЕЗНЬ КРЕЙТЦФЕЛЬДТА-ЯКОБА, ДИАГНОСТИЧЕСКИЕ КРИТЕРИИ, ПРИОН

وصف الملف: application/pdf

العلاقة: Уральский медицинский журнал. 2018. Т. 166, № 11.; Багаева, Ю. С. Болезнь Крейтцфельдта-Якоба. Случай из клинической практики / Ю. С. Багаева, М. Г. Топоркова, Л. И. Волкова. – Текст: электронный // Уральский медицинский журнал. - 2018. – T. 166, № 11. – С. 5-9.; http://elib.usma.ru/handle/usma/12924Test

الإتاحة: http://elib.usma.ru/handle/usma/12924Test

المؤلفون: Berdyshev, Gennady, Radchenko, A.

المصدر: Physics of Consciousness and Life, Cosmology and Astrophysics; Vol 2, No 3 (2002); 12-24 ; Физика сознания и жизни, космология и астрофизика; Vol 2, No 3 (2002); 12-24 ; 2413-9653 ; 1680-6921

مصطلحات موضوعية: Physics of Consciousness and Life, prion, prion protein, bovini spongiform encephalopathy, scrapie, Creutzfeldt-Jakob disease, Gerstmann-Straussler syndrome, Физика сознания и жизни, прион, прионный белок, острые трансмиссивные губкоподобные заболевания, энцефалопатия крупного рогатого скота, синдром Крейцфельдта-Якоба, синдром Герстмана-Штрауслера-Шенклера

العلاقة: http://physics.socionic.info/index.php/physics/article/view/281Test

الإتاحة: http://physics.socionic.info/index.php/physics/article/view/281Test