المؤلفون: Theuns, J, Verstraeten, A, Sleegers, K, Wauters, E, Gijselinck, I, Smolders, S, Crosiers, D, Corsmit, E, Elinck, E, Sharma, M, Kruger, R, Lesage, S, Brice, A, Chung, SJ, Kim, MJ, Kim, YJ, Ross, OA, Wszolek, ZK, Rogaeva, E, Xi, Z, Lang, AE, Klein, C, Weissbach, A, Mellick, GD, Silburn, PA, Hadjigeorgiou, GM, Dardiotis, E, Hattori, N, Ogaki, K, Tan, EK, Zhao, Y, Aasly, J, Valente, EM, Petrucci, S, Annesi, G, Quattrone, A, Ferrarese, C, Brighina, L, Deutschlander, A, Puschmann, A, Nilsson, C, Garraux, G, LeDoux, MS, Pfeiffer, RF, Boczarska-Jedynak, M, Maraganore, GODM, Engelborghs, S, De Deyn, PP, Cras, P, Cruts, M, Van Broeckhoven, C

المصدر: Neurology. 83(21):1906-1913

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:130165997Test

المؤلفون: Prudencio, M, Garcia-Moreno, H, Jansen-West, KR, Al-Shaikh, RH, Gendron, TF, Heckman, MG, Spiegel, MR, Carlomagno, Y, Daughrity, LM, Song, Y, Dunmore, JA, Byron, N, Oskarsson, B, Nicholson, KA, Staff, NP, Gorcenco, S, Puschmann, A, Lemos, J, Januário, C, LeDoux, MS, Friedman, JH, Polke, J, Labrum, R, Shakkottai, V, McLoughlin, HS, Paulson, HL, Konno, T, Onodera, O, Ikeuchi, T, Tada, M, Kakita, A, Fryer, JD, Karremo, C, Gomes, I, Caviness, JN, Pittelkow, MR, Aasly, J, Pfeiffer, RF, Veerappan, V, Eggenberger, ER, Freeman, WD, Huang, JF, Uitti, RJ, Wierenga, KJ, Marin Collazo, IV, Tipton, PW, van Gerpen, JA, van Blitterswijk, M, Bu, G, Wszolek, ZK, Giunti, P, Petrucelli, L

المصدر: Science Translational Medicine , 12 (566) , Article eabb7086. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10113896/1/abb7086_CombinedPDF_v3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10113896Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10113896/1/abb7086_CombinedPDF_v3.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10113896Test/

المؤلفون: ian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS.

المساهمون: Ian, J, Vemula, Sr, Xiao, J, Valente, Em, Defazio, G, Petrucci, S, Gigante, Af, Rudzińska-Bar, M, Wszolek, Zk, Kennelly, Kd, Uitti, Rj, van Gerpen, Ja, Hedera, P, Trimble, Ej, Ledoux, Ms.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29770609; info:eu-repo/semantics/altIdentifier/wos/WOS:000441004000014; volume:6; issue:4; firstpage:601; lastpage:626; numberofpages:26; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11584/247996Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047660709

الإتاحة: https://doi.org/10.1002/mgg3.411Test
http://hdl.handle.net/11584/247996Test

المؤلفون: Shakkottai, VG, Batla, A, Bhatia, K, Dauer, WT, Dresel, C, Niethammer, M, Eidelberg, D, Raike, RS, Smith, Y, Jinnah, HA, Hess, EJ, Meunier, S, Hallett, M, Fremont, R, Khodakhah, K, LeDoux, MS, Popa, T, Gallea, C, Lehericy, S, Bostan, AC, Strick, PL

المصدر: The Cerebellum , 16 (2) pp. 577-594. (2017)

مصطلحات موضوعية: Cerebellum, Dystonia, Ataxia, DYT1, Networks, Circuits

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10060630/3/Shakkottai_Consensus%20paper%20version%20Revision%20final%20clean%20copy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10060630Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10060630/3/Shakkottai_Consensus%20paper%20version%20Revision%20final%20clean%20copy.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10060630Test/

المؤلفون: Wang, M, Sajobi, T, Morgante, F, Adler, C, Agarwal, P, Bäumer, T, Berardelli, A, Berman, BD, Blumin, J, Borsche, M, Brashear, A, Deik, A, Duque, K, Espay, AJ, Ferrazzano, G, Feuerstein, J, Fox, S, Frank, S, Hallett, M, Jankovic, J, LeDoux, MS, Leegwater-Kim, J, Mahajan, A, Malaty, IA, Ondo, W, Pantelyat, A, Pirio-Richardson, S, Roze, E, Saunders-Pullman, R, Suchowersky, O, Truong, D, Vidailhet, M, Wagle Shukla, A, Perlmutter, JS, Jinnah, HA, Martino, D

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113503/1/ene.15031.pdfTest; Wang, M; Sajobi, T; Morgante, F; Adler, C; Agarwal, P; Bäumer, T; Berardelli, A; Berman, BD; Blumin, J; Borsche, M; et al. Wang, M; Sajobi, T; Morgante, F; Adler, C; Agarwal, P; Bäumer, T; Berardelli, A; Berman, BD; Blumin, J; Borsche, M; Brashear, A; Deik, A; Duque, K; Espay, AJ; Ferrazzano, G; Feuerstein, J; Fox, S; Frank, S; Hallett, M; Jankovic, J; LeDoux, MS; Leegwater-Kim, J; Mahajan, A; Malaty, IA; Ondo, W; Pantelyat, A; Pirio-Richardson, S; Roze, E; Saunders-Pullman, R; Suchowersky, O; Truong, D; Vidailhet, M; Wagle Shukla, A; Perlmutter, JS; Jinnah, HA; Martino, D (2021) Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion. EUROPEAN JOURNAL OF NEUROLOGY, 28 (12). pp. 3999-4009. ISSN 1351-5101 https://doi.org/10.1111/ene.15031Test SGUL Authors: Morgante, Francesca

الإتاحة: https://doi.org/10.1111/ene.15031Test
https://openaccess.sgul.ac.uk/id/eprint/113503Test/
https://openaccess.sgul.ac.uk/id/eprint/113503/1/ene.15031.pdfTest

المؤلفون: LeDoux, MS, Xiao, J, Rudzińska, M, Bastian, RW, Wszolek, ZK, Van Gerpen, JA, Puschmann, Andreas, Momčilović, D, Vemula, S, Zhao, Y

المصدر: Parkinsonism & Related Disorders MultiPark: Multidisciplinary research focused on Parkinson´s disease. 18(5):414-425

مصطلحات موضوعية: Dystonia, THAP1, DYT6, Spasmodic dysphonia, Tremor, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology

الوصول الحر: https://lup.lub.lu.se/record/2430516Test
http://dx.doi.org/10.1016/j.parkreldis.2012.02.001Test

المؤلفون: Smolders, S, Gijselinck, I, Wauters, E, Pfeiffer, Rf, Sleegers, K, Verstraeten, A, Theuns, J, Corsmit, E, Ledoux, Ms, Elinck, E, Boczarska-Jedynak, M, Sharma, M, Krüger, R, Lesage, S, Brice, A, Opala, G, Maraganore, Dm, Engelborghs, S, De, Deyn, Cras, P, Cruts, M, Garraux, G, Chung, Sj, Van, Broeckhoven, Kim, Mj, Kim, Yj, Ross, Oa, Wszolek, Zk, Nilsson, C, Rogaeva, E, Puschmann, A, Deutschländer, A, Brighina, L, Xi, Z, Lang, Ae, Klein, C, Ferrarese, C, Quattrone, A, Annesi, G, Weissbach, A, Petrucci, S, Mellick, Gd, Valente, Em, Silburn, Pa, Aasly, J, Zhao, Y, Tan, Ek, Hadjigeorgiou, Gm, Dardiotis, E, Hattori, N, Ogaki, K, Geo-Pd, Consortium., Crosiers, D

العلاقة: c860029e-7f60-4a45-921a-18dbd3f430d9; https://avesis.kocaeli.edu.tr/publication/details/c860029e-7f60-4a45-921a-18dbd3f430d9/oaiTest

الإتاحة: https://doi.org/10.1212/wnl.0000000000001012Test
https://avesis.kocaeli.edu.tr/publication/details/c860029e-7f60-4a45-921a-18dbd3f430d9/oaiTest

المؤلفون: Xiao, J., Nance, Ma, Ledoux, Ms

المصدر: Faculty Publications

مصطلحات موضوعية: Breakpoint, Deletion mutation, Myoclonus-dystonia syndrome, Nonsense-mediated decay, SGCE, Psychology

العلاقة: https://digitalcommons.memphis.edu/facpubs/8058Test; https://doi.org/10.1111/cge.12059Test

الإتاحة: https://doi.org/10.1111/cge.12059Test
https://digitalcommons.memphis.edu/facpubs/8058Test

المؤلفون: Xiao, J, Nance, MA, LeDoux, MS

المصدر: Clinical Genetics ; volume 84, issue 3, page 276-280 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12059Test

المؤلفون: Xiao, J, Nance, MA, LeDoux, MS

المصدر: Clinical Genetics; Sep2013, Vol. 84 Issue 3, p276-280, 5p, 1 Diagram, 1 Chart

مصطلحات موضوعية: DYSTONIA, DELETION mutation, MUSCLE diseases, LEUCOCYTES, REVERSE transcriptase