المؤلفون: Arun Swaminathan

المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Epilepsy, SCA8, Neurodegenerative disease, Status epilepticus, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13256-019-2270-x; https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/f887c955f92d42d0b2bd3d3dd6b725db

المؤلفون: Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T. Epplen, Larissa Arning

المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Spinocerebellar ataxia, Repeat expansions, SCA8, Fxtas, C9orf72, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-017-1009-9; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/671fe22d04b64773ab04352ed88225c3

المؤلفون: Akiko Yoshimura, Hiroshi Takashima, Jun Sawada, Kae Takahashi, Kohei Kano, Naoyuki Hasebe, Shiori Kikuchi, Takashi Tokashiki, Takayuki Katayama, Tsukasa Saito, Yoshiki Adachi, Yuji Okamoto

المصدر: Internal Medicine. 2020, 59(2):277

المؤلفون: MANDRILE, Giorgia, DI GREGORIO, ELEONORA, GIACHINO, Daniela Francesca, DE MERCANTI, STEFANIA FEDERICA, DE MARCHI, Mario, BRUSCO, Alfredo, Goel, Himanshu, Iudicello, Marco, Rolando, Marco, Losa, Sabrina

المساهمون: Mandrile, Giorgia, Di Gregorio, Eleonora, Goel, Himanshu, Giachino, Daniela, De Mercanti, Stefania, Iudicello, Marco, Rolando, Marco, Losa, Sabrina, De Marchi, Mario, Brusco, Alfredo

مصطلحات موضوعية: sca8, spinocerebellar ataxia, atxn80s, KLHL1

Relation: info:eu-repo/semantics/altIdentifier/pmid/25998497; info:eu-repo/semantics/altIdentifier/wos/WOS:000371813300014; volume:15; issue:2; firstpage:208; lastpage:212; numberofpages:5; journal:CEREBELLUM; http://hdl.handle.net/2318/1521986; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84959457895; http://link.springer.com/article/10.1007%2Fs12311-015-0679-3

الاتاحة: http://hdl.handle.net/2318/1521986
https://doi.org/10.1007/s12311-015-0679-3
http://link.springer.com/article/10.1007%2Fs12311-015-0679-3

المؤلفون: Paula Patricia Perissinotti, Elizabeth G. Ethington, Erik eAlmazan, Elizabeth eMartínez-Hernández, Jennifer eKalil, Michael D. Koob, Erika S. Piedras-Renteria

المصدر: Frontiers in Cellular Neuroscience, Vol 8 (2015)

مصطلحات موضوعية: actin-binding proteins, HVA, SCA8, Synapsin I, Kelch-like 1 protein, T-type voltage-gated calcium channels, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fncel.2014.00444/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/1f4d51d0bbea480d847d13029f7caa38

المؤلفون: Vincent, John B., Neves-Pereira, Maria L., Paterson, Andrew D., Yamamoto, Etsuko, Parikh, Sagar V., Macciardi, Fabio, Gurling, Hugh M. D., Potkin, Steve G., Pato, Carlos N., Macedo, António, Kovacs, Maria, Davies, Marilyn, Lieberman, Jeffrey A., Meltzer, Herbert Y., Petronis, Arturas, Kennedy, James L.

مصطلحات موضوعية: Trinucleotide-repeat expansion, Bipolar disorder, DNA, unstable, Schizophrenia, Spinocerebellar ataxia 8 (SCA8)

وصف الملف: aplication/PDF

Relation: The American Journal of Human Genetics. 66:3 (2000) 819-829; https://hdl.handle.net/10316/4842

الاتاحة: https://hdl.handle.net/10316/4842
https://doi.org/10.1086/302803

المؤلفون: Gray, Madelyn M, Carter, Russell E, Liu, Chao J, Akkin, T, Ebner, Timothy J

مصطلحات موضوعية: SCA8, SOCS, Label-Free, Cerebellum

Relation: http://hdl.handle.net/11299/184250

الاتاحة: http://hdl.handle.net/11299/184250

المؤلفون: Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T. Epplen, Larissa Arning

المصدر: BMC Neurology
BMC Neurology, Vol 18, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repeat Expansion, C9orf72 Protein, SCA8, Nerve Tissue Proteins, Middle Aged, Fxtas, lcsh:RC346-429, Cohort Studies, Young Adult, Fragile X Syndrome, Tremor, C9orf72, Repeat expansions, Humans, Spinocerebellar Ataxias, Ataxia, Female, Spinocerebellar ataxia, lcsh:Neurology. Diseases of the nervous system, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::89264c138d2be4556e4b55b186838004
https://pubmed.ncbi.nlm.nih.gov/29316893

المؤلفون: M. Rolando, Stefania Federica De Mercanti, Giorgia Mandrile, Marco Iudicello, Alfredo Brusco, Mario De Marchi, Daniela Giachino, Sabrina Losa, Eleonora Di Gregorio, Himanshu Goel

المصدر: Cerebellum (London, England). 15(2)

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellum, Heterozygote, Ataxia, atxn80s, Locus (genetics), Biology, sca8, spinocerebellar ataxia, atxn80s, KLHL1, 03 medical and health sciences, Dysarthria, spinocerebellar ataxia, medicine, sca8, Humans, Spinocerebellar Ataxias, Genetic Predisposition to Disease, Allele, Child, Gene, Genetics, Microfilament Proteins, medicine.disease, Penetrance, Pedigree, KLHL1, 030104 developmental biology, medicine.anatomical_structure, Neurology, Genetic Loci, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51f769aec89d425d7371a71a19f29416
https://pubmed.ncbi.nlm.nih.gov/25998497

المؤلفون: Tanaka, Eiji, Maruyama, Hirofumi, Morino, Hiroyuki, Kawakami, Hideshi

المصدر: Hiroshima Journal of Medical Sciences. 60(3):63-66

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, SCA8, Repeat-Primed PCR

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::13eda7743c9db50fb6a78bfecbdae184
http://ir.lib.hiroshima-u.ac.jp/00034997

المؤلفون: Topisirovic, I., Dragaševic, N., Savic, D., Ristic, A., Keckarevic, M., Keckarevic, D., Culjkovic, B., Petrovic, I., Romac, S., Kostic, V. S.

مصطلحات موضوعية: Ataxia, SCA8, Trinucleotide repeat expansion

Relation: Clinical Genetics; https://biore.bio.bg.ac.rs/handle/123456789/2838; 2-s2.0-0036821819; https://api.elsevier.com/content/abstract/scopus_id/0036821819

الاتاحة: https://biore.bio.bg.ac.rs/handle/123456789/2838
https://doi.org/10.1034/j.1399-0004.2002.620412.x
https://api.elsevier.com/content/abstract/scopus_id/0036821819

المؤلفون: Tosar, L.J.M., Thomas, M.G., Baez, M.V., Ibanez, I., Chernomoretz, A., Boccaccio, G.L.

مصطلحات موضوعية: FMRP, FUS/TLS/hnRNP P2, HIV, Huntingtin, Influenza virus, Memory, Mrna transport, Neurodegeneration, Neuron, Oligodendrocyte, Review, SCA8, Staufen, Stress granules, TDP-43, apolipoprotein B messenger RNA editing enzyme catalytic polypeptide 3G, double stranded RNA, fragile X mental retardation protein, fused in sarcoma protein, messenger RNA, nucleic acid binding protein, protein kinase R, ribonucleoprotein, RNA binding protein, spinocerebellar ataxia 8 protein, staufen 1 protein, staufen 2 protein, TAR DNA binding protein, unclassified drug, virus protein

Relation: http://hdl.handle.net/20.500.12110/paper_19450516_v4S_n2_p432_Tosar

الاتاحة: https://hdl.handle.net/20.500.12110/paper_19450516_v4S_n2_p432_Tosar

المؤلفون: 楊修嘉, Siou-Jia Yang

المساهمون: 李桂楨, Guey-Jen Lee-Chen

مصطلحات موضوعية: 小腦萎縮, 神經退化, 遺傳, 帕金森氏症, 脊髓, SCA8, SNP, PD, AD, ATXN8

وصف الملف: application/pdf

Relation: GN0698430506; http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22GN0698430506%22.&%22.id.&; http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/104365

الاتاحة: http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/104365
https://hdl.handle.net/20.500.12235/104365
http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22GN0698430506%22.&%22.id.&

المؤلفون: 黃淑宜, Shu-Yi Huang

المساهمون: 李桂楨 博士, Dr. Guey-Jen Lee-Chen

مصطلحات موضوعية: 第八型脊髓小腦共濟失調症, 氧化壓力, 甲基化, Netherton徵候群, SCA8, KLHL1, epigenetic, oxidative stress, methylation, Netherton Syndrome

وصف الملف: application/pdf

Relation: G0069343018; http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G0069343018%22.&%22.id.&; http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/103826

الاتاحة: http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/103826
https://hdl.handle.net/20.500.12235/103826
http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G0069343018%22.&%22.id.&

المؤلفون: 項聖文, Sheng-Weng Hsiang

المساهمون: 蘇銘燦, Ming-Tsan Su

مصطلحات موضوعية: 脊髓小腦運動失調症, 三核酸重複, 聚白胺基酸蛋白, 熱休克蛋白, 核酸結合蛋白, 神經退化疾病, SCA8, KLHL1, HSP70, PKAAP, CTG, IRES, RNA foci, ORF3, rough eye, polyL

وصف الملف: application/pdf

Relation: G0069243010; http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G0069243010%22.&%22.id.&; http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/103814

الاتاحة: http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/103814
https://hdl.handle.net/20.500.12235/103814
http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G0069243010%22.&%22.id.&

المؤلفون: Thomas, María Gabriela, Baez, María Verónica, Chernomoretz, Ariel, Boccaccio, Graciela Lidia

مصطلحات موضوعية: FMRP, FUS/TLS/hnRNP P2, HIV, Huntingtin, Influenza virus, Memory, Mrna transport, Neurodegeneration, Neuron, Oligodendrocyte, Review, SCA8, Staufen, Stress granules, TDP-43, apolipoprotein B messenger RNA editing enzyme catalytic polypeptide 3G, double stranded RNA, fragile X mental retardation protein, fused in sarcoma protein, messenger RNA, nucleic acid binding protein, protein kinase R, ribonucleoprotein, RNA binding protein, spinocerebellar ataxia 8 protein, staufen 1 protein, staufen 2 protein, TAR DNA binding protein, unclassified drug, virus protein

Relation: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_19450516_v4S_n2_p432_Tosar; http://hdl.handle.net/20.500.12110/paper_19450516_v4S_n2_p432_Tosar

الاتاحة: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_19450516_v4S_n2_p432_Tosar
https://hdl.handle.net/20.500.12110/paper_19450516_v4S_n2_p432_Tosar

المؤلفون: Lulin Choubtum

Committee Members: Mahidol University. Faculty of Medicine, Ramathibodi Hospital. Division of Neurology

URL: https://repository.li.mahidol.ac.th/handle/123456789/2713

المؤلفون: Tanaka, Eiji, Maruyama, Hirofumi, Morino, Hiroyuki, Kawakami, Hideshi

مصطلحات الفهرس: SCA8, Repeat-Primed PCR, 490, departmental bulletin paper

URL: http://ir.lib.hiroshima-u.ac.jp/00034997