المؤلفون: Ylikotila, P. (Pauli), Sipilä, J. (Jussi), Alapirtti, T. (Tiina), Ahmasalo, R. (Riitta), Koshimizu, E. (Eriko), Miyatake, S. (Satoko), Hurme-Niiranen, A. (Anri), Siitonen, A. (Ari), Doi, H. (Hiroshi), Tanaka, F. (Fumiaki), Matsumoto, N. (Naomichi), Majamaa, K. (Kari), Kytövuori, L. (Laura)

مصطلحات موضوعية: Parkinson’s disease, RFC1 disease, repeat expansion diseases

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe20230825107705Test

المؤلفون: Aoki, Y, Rocha, CSJ, Lehto, T, Miyatake, S, Johansson, H, Hashimoto, Y, Nordin, JZ, Mager, I, Aoki, M, Graham, M, Sathyaprakash, C, Roberts, TC, Wood, MJA, Behlke, MA, Andaloussi, SE

العلاقة: https://ora.ox.ac.uk/objects/uuid:700860e5-fcba-4f66-ab89-a4a8f25eee46Test; https://doi.org/10.3389/fphys.2021.689179Test

الإتاحة: https://doi.org/10.3389/fphys.2021.689179Test
https://ora.ox.ac.uk/objects/uuid:700860e5-fcba-4f66-ab89-a4a8f25eee46Test

المؤلفون: Saida, K, Maroofian, R, Sengoku, T, Mitani, T, Pagnamenta, AT, Marafi, D, Zaki, MS, O'Brien, TJ, Karimiani, EG, Kaiyrzhanov, R, Takizawa, M, Ohori, S, Leong, HY, Akay, G, Galehdari, H, Zamani, M, Romy, R, Carroll, CJ, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Malek, H, Ahangari, N, Tomoum, H, Gowda, VK, Srinivasan, VM, Murphy, D, Dominik, N, Elbendary, HM, Rafat, K, Yilmaz, S, Kanmaz, S, Serin, M, Krishnakumar, D, Gardham, A, Maw, A, Rao, TS, Alsubhi, S, Srour, M, Buhas, D, Jewett, T, Goldberg, RE, Shamseldin, H, Frengen, E, Misceo, D, Strømme, P, Magliocco Ceroni, JR, Kim, CA, Yesil, G, Sengenc, E, Guler, S, Hull, M, Parnes, M, Aktas, D, Anlar, B, Bayram, Y, Pehlivan, D, Posey, JE, Alavi, S, Madani Manshadi, SA, Alzaidan, H, Al-Owain, M, Alabdi, L, Abdulwahab, F, Sekiguchi, F, Hamanaka, K, Fujita, A, Uchiyama, Y, Mizuguchi, T, Miyatake, S, Miyake, N, Elshafie, RM, Salayev, K, Guliyeva, U, Alkuraya, FS, Gleeson, JG, Monaghan, KG, Langley, KG, Yang, H, Motavaf, M, Safari, S, Alipour, M, Ogata, K, Brown, AEX, Lupski, JR, Houlden, H, Matsumoto, N

المصدر: Genetics in Medicine , 25 (1) pp. 90-102. (2023)

مصطلحات موضوعية: Brain monoamine vesicular transport disease, Dopamine agonist, Dystonia, SLC18A2, VMAT2, Humans, Animals, Rats, Caenorhabditis elegans, Vesicular Monoamine Transport Proteins, Brain Diseases, Movement Disorders, Amines, Brain

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10184407Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10184407Test/

المؤلفون: Aoki, Y, Rocha, CSJ, Lehto, T, Miyatake, S, Johansson, H, Hashimoto, Y, Nordin, JZ, Mager, I, Aoki, M, Graham, M, Sathyaprakash, C, Roberts, TC, Wood, MJA, Behlke, MA, El Andaloussi, S

المصدر: Frontiers in physiology. 12:689179

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:147972142Test

المؤلفون: Kytövuori, L. (Laura), Sipilä, J. (Jussi), Doi, H. (Hiroshi), Hurme-Niiranen, A. (Anri), Siitonen, A. (Ari), Koshimizu, E. (Eriko), Miyatake, S. (Satoko), Matsumoto, N. (Naomichi), Tanaka, F. (Fumiaki), Majamaa, K. (Kari)

مصطلحات موضوعية: Medical genetics, Parkinson's disease, Translational research

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2022050332237Test

المؤلفون: Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H., Chew, H., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E., Démurger, F., Denommé-Pichon, A., Depienne, C., Donnai, D., Dyment, D., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M., Miyatake, S., Mizuguchi, T., Moey, L., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R., Stegmann, A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J., Vergano, S., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D., Kleefstra, T., Reymond, A., Fisher, S., Vissers, L.

المساهمون: The DDD study

المصدر: The American Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0007-623A-ATest; http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
http://hdl.handle.net/21.11116/0000-0007-623A-ATest
http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

المؤلفون: Miyatake S, Shimizu-Motohashi Y, Takeda S, Aoki Y

المصدر: Drug Design, Development and Therapy, Vol Volume 10, Pp 2745-2758 (2016)

مصطلحات موضوعية: calcium channels, Duchenne muscular dystrophy, exon skipping, NF-κB, myokine, ROS, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/anti-inflammatory-drugs-for-duchenne-muscular-dystrophy-focus-on-skele-peer-reviewed-article-DDDTTest; https://doaj.org/toc/1177-8881Test

الوصول الحر: https://doaj.org/article/06f92d02aa514c2e9619f68bbb243a21Test

المؤلفون: Miyatake, S, Mizobe, Y, Tsoumpra, MK, Lim, KRQ, Hara, Y, Shabanpoor, F, Yokota, T, Takeda, S, Aoki, Y

العلاقة: pii: S2162-2531(19)30012-5; Miyatake, S., Mizobe, Y., Tsoumpra, M. K., Lim, K. R. Q., Hara, Y., Shabanpoor, F., Yokota, T., Takeda, S. & Aoki, Y. (2019). Scavenger Receptor Class A1 Mediates Uptake of Morpholino Antisense Oligonucleotide into Dystrophic Skeletal Muscle. MOLECULAR THERAPY-NUCLEIC ACIDS, 14, pp.520-535. https://doi.org/10.1016/j.omtn.2019.01.008Test.; http://hdl.handle.net/11343/304291Test

الإتاحة: https://doi.org/10.1016/j.omtn.2019.01.008Test
http://hdl.handle.net/11343/304291Test

المؤلفون: Tsuchida, N., Nakashima, M., Kato, M., Heyman, E., Inui, T., Haginoya, K., Watanabe, S., Chiyonobu, T., Morimoto, M., Ohta, M., Kumakura, A., Kubota, M., Kumagai, Y., Hamano, S.‐I., Lourenco, C.M., Yahaya, N.A., Ch'ng, G.‐S., Ngu, L.‐H., Fattal‐Valevski, A., Weisz Hubshman, M., Orenstein, N., Marom, D., Cohen, L., Goldberg‐Stern, H., Uchiyama, Y., Imagawa, E., Mizuguchi, T., Takata, A., Miyake, N., Nakajima, H., Saitsu, H., Miyatake, S., Matsumoto, N.

المساهمون: Takeda Science Foundation, Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development

المصدر: Clinical Genetics ; volume 93, issue 3, page 577-587 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13144Test

المؤلفون: Imagawa, E., Yamamoto, Y., Mitsuhashi, S., Isidor, B., Fukuyama, T., Kato, M., Sasaki, M., Tanabe, S., Miyatake, S., Mizuguchi, T., Takata, A., Miyake, N., Matsumoto, N.

المساهمون: Japan Agency for Medical Research and Development, Japan Science and Technology Agency, Ministry of Education, Culture, Sports, Science and Technology, Ministry of Health, Labour and Welfare, Takeda Science Foundation

المصدر: Clinical Genetics ; volume 94, issue 3-4, page 362-367 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13385Test