المؤلفون: Klockgether, T, Synofzik, M, Alhusaini, S, Anheim, M, Antonijevic, I, Ashizawa, T, Bataller, L, Berard, M, Bertini, E, Boesch, S, Braga-Neto, P, Cassou, E, Chan, E, Chuang, R, Collins, A, Damásio, J, Donis, K, Duquette, A, Durães, J, Durr, A, Evans, R, Faber, J, Farmer, J, Gennarino, V, Graessner, H, Grobe-Einsler, M, Hanagasie, H, Heidari, M, Houlden, H, Indelicato, E, Ishikawa, K, Jacobi, H, Jardim, L, Kisanuki, Y, Kopishinskaia, S, L´Italien, G, Maas, R, Mancuso, M, Mariotti, C, Ibrahim, NM, Nachbauer, W, Nemeth, A, Ng, YS, Obieglo, K, Onodera, O, Opal, P, de Almeida, LP, Perlman, S, Primiano, G, Renaud, M, Rosenthal, L, Saccà, F, Sattar, Z, Schmitz-Hübsch, T, Schöls, L, Schüle, R, Seeberger, L, Silvestri, G, Sobanska, A, Soong, BW, Srivastava, AK, Stoyas, C, du Montcel, ST, Thieme, A, Timmann, D, Tocoian, A, Traschütz, A, van de Warrenburg, B, Ziegler, W

المصدر: The Cerebellum (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10168899/1/s12311-023-01547-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10168899Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10168899/1/s12311-023-01547-z.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10168899Test/

المؤلفون: Coutelier, M, Hammer, MB, Stevanin, G, Monin, ML, Davoine, CS, Mochel, F, Labauge, P, Ewenczyk, C, Ding, J, Gibbs, JR, Hannequin, D, Melki, J, Toutain, A, Laugel, V, Forlani, S, Charles, P, Broussolle, E, Thobois, S, Afenjar, A, Anheim, M, Calvas, P, Castelnovo, G, De Broucker, T, Vidailhet, M, Moulignier, A, Ghnassia, RT, Tallaksen, C, Mignot, C, Goizet, C, Le Ber, I, Ollagnon-Roman, E, Pouget, J, Brice, A, Singleton, A, Durr, A, Belarabi, S, Hamri, A, Tazir, M, Boesch, S, Pandolfo, M, Ullmann, U, Jardim, L, Guergueltcheva, V, Tournev, I, Soong, BW

المصدر: JAMA Neurology , 75 (5) pp. 591-599. (2018)

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10051193Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10051193Test/

المؤلفون: (Tsai PC), (Chen CH), (Liu AB), (Chen YC), (Soong BW), (Lin KP), 林秀芳(Shaw-Fang Yet), (Lee YC)*

المساهمون: 醫學院基礎醫學研究所, 中國附醫醫研部代謝體中心

مصطلحات موضوعية: Charcot–Marie–Tooth disease, CMT, HMSN, GJB1, CX32, 5′ non-coding region, Promoter

العلاقة: JOURNAL OF THE NEUROLOGICAL SCIENCES 332(-):51-55; http://ir.cmu.edu.tw/ir/handle/310903500/50662Test

الإتاحة: http://ir.cmu.edu.tw/ir/handle/310903500/50662Test

المؤلفون: Sasaki, H, Martins, S, Giunti, P, Soong, BW, Riess, O, Tsuji, S, Countinho, P, Nicholson, GA, Sequeiros, J, Amorim, A, Ranum, LPW, Stevanin, G, Wong, VCN

مصطلحات موضوعية: Nuclear Proteins - genetics, Nerve Tissue Proteins - genetics, Mutation - genetics, Machado-Joseph Disease - ethnology - genetics, Genetic Predisposition to Disease

العلاقة: Archives of neurology; Archives of neurology, 2012, v. 69 n. 6, p. 746-751; 751; 200479; WOS:000305139900011; 746; http://hdl.handle.net/10722/152780Test; 69

الإتاحة: https://doi.org/10.1001/archneurol.2011.2504Test
http://hdl.handle.net/10722/152780Test

المؤلفون: Martins, S, Jardim, LB, Calafell, F, Gaspar, C, Silveira, I, Ranum P, LPW, Brice, A, Coutinho, P, Riess, O, Nicholson, GA, Brunt, ER, Tsuji, S, Dürr, A, Tranebjaerg, L, Stevanin, G, Hsieh, M, Soong, BW, Watanabe, M, Amorim, A, Sequeiros, J, Loureiro, L, Rouleau, GA, Giunti, P, Wong, VCN

مصطلحات موضوعية: Machado-Joseph Disease/*epidemiology/*genetics, Tandem Repeat Sequences/genetics, Portugal/epidemiology, Population, Polymorphism, Single Nucleotide/genetics, Mutation/*physiology, Japan/epidemiology, Humans, Haplotypes, Founder Effect, Europe/epidemiology, Emigration and Immigration, Asia/epidemiology

العلاقة: Archives of Neurology; http://www.scopus.com/mlt/select.url?eid=2-s2.0-35348877394&selection=ref&src=s&origin=recordpageTest; Archives Of Neurology, 2007, v. 64 n. 10, p. 1502-1508; 1508; 138416; WOS:000249998400015; 10; eid_2-s2.0-35348877394; 1502; http://hdl.handle.net/10722/143515Test; 64

الإتاحة: https://doi.org/10.1001/archneur.64.10.1502Test
http://hdl.handle.net/10722/143515Test

المؤلفون: Swoboda, KJ, Soong, BW, McKenna, C, Brunt, ERP, Litt, M, Bale, JF, Ashizawa, T, Bennett, LB, Bowcock, AM, Roach, ES, Gerson, D, Matsuura, T, Heydemann, PT, Nespeca, MP, Jankovic, J, Leppert, M, Ptacek, LJ

المصدر: Swoboda , KJ , Soong , BW , McKenna , C , Brunt , ERP , Litt , M , Bale , JF , Ashizawa , T , Bennett , LB , Bowcock , AM , Roach , ES , Gerson , D , Matsuura , T , Heydemann , PT , Nespeca , MP , Jankovic , J , Leppert , M & Ptacek , LJ 2001 , ' Paroxysmal kinesigenic dyskinesia and infantile convulsions - Clinical and linkage studies ' , Neurology , vol. 57 , no. 11 , pp. S42-S48 .

مصطلحات موضوعية: POTASSIUM CHANNEL GENE, CHROMOSOME 2Q, CHOREOATHETOSIS, DYSTONIA, SEIZURES, EPILEPSY, MAPS, HUMAN-CHROMOSOME-16, CLASSIFICATION, EXERCISE

العلاقة: https://research.rug.nl/en/publications/a39b2e48-a195-4603-a544-c6b101b10f2bTest

الإتاحة: https://hdl.handle.net/11370/a39b2e48-a195-4603-a544-c6b101b10f2bTest
https://research.rug.nl/en/publications/a39b2e48-a195-4603-a544-c6b101b10f2bTest

المؤلفون: Gaspar, C, Lopes-Cendes, I, Hayes, S, Goto, J, Arvidsson, K, Dias, A, Silveira, I, Maciel, P, Coutinho, P, Lima, M, Zhou, YX, Soong, BW, Watanabe, M, Giunti, P, Stevanin, G, Riess, O, Sasaki, H, Hsieh, M, Nicholson, GA, Brunt, E, Higgins, JJ, Lauritzen, M, Tranebjaerg, L, Volpini, V, Wood, N, Ranum, L, Tsuji, S, Brice, A, Sequeiros, J, Rouleau, GA

المصدر: Gaspar , C , Lopes-Cendes , I , Hayes , S , Goto , J , Arvidsson , K , Dias , A , Silveira , I , Maciel , P , Coutinho , P , Lima , M , Zhou , YX , Soong , BW , Watanabe , M , Giunti , P , Stevanin , G , Riess , O , Sasaki , H , Hsieh , M , Nicholson , GA , Brunt , E , Higgins , JJ , Lauritzen , M , Tranebjaerg , L , Volpini , V , Wood , N ....

مصطلحات موضوعية: LINKAGE DISEQUILIBRIUM, INTRAGENIC POLYMORPHISMS, GENETIC DISORDER, CAG EXPANSIONS, FAMILIES, DEGENERATION, DOMINANT, ATAXIA, INSTABILITY, MJD1

العلاقة: https://research.rug.nl/en/publications/fd585447-5abb-42b9-bc95-76543dc9d791Test

الإتاحة: https://doi.org/10.1086/318184Test
https://hdl.handle.net/11370/fd585447-5abb-42b9-bc95-76543dc9d791Test
https://research.rug.nl/en/publications/fd585447-5abb-42b9-bc95-76543dc9d791Test

المؤلفون: Swoboda, KJ, Soong, BW, McKenna, C, Brunt, ERP, Litt, M, Bale, JF, Ashizawa, T, Bennett, LB, Bowcock, AM, Roach, ES, Gerson, D, Matsuura, T, Heydemann, PT, Nespeca, MP, Jankovic, J, Leppert, M, Ptacek, LJ

المصدر: Swoboda , KJ , Soong , BW , McKenna , C , Brunt , ERP , Litt , M , Bale , JF , Ashizawa , T , Bennett , LB , Bowcock , AM , Roach , ES , Gerson , D , Matsuura , T , Heydemann , PT , Nespeca , MP , Jankovic , J , Leppert , M & Ptacek , LJ 2000 , ' Paroxysmal kinesigenic dyskinesia and infantile convulsions - Clinical and linkage studies ' , Neurology , vol. 55 , no. 2 , pp. 224-230 .

مصطلحات موضوعية: POTASSIUM CHANNEL GENE, CHROMOSOME 2Q, CHOREOATHETOSIS, DYSTONIA, SEIZURES, EPILEPSY, CLASSIFICATION, EXERCISE, FEATURES, ATTACKS

العلاقة: https://research.rug.nl/en/publications/6a52a9bd-42c4-4e81-ae6e-150b573e148fTest

الإتاحة: https://hdl.handle.net/11370/6a52a9bd-42c4-4e81-ae6e-150b573e148fTest
https://research.rug.nl/en/publications/6a52a9bd-42c4-4e81-ae6e-150b573e148fTest

المؤلفون: Cheng HL, Lin CJ, Soong BW, Wang PN, Chang FC, Wu YT, Chou KH, Lin CP, Tu PC, Lee IH, Cheng, Hsien-Lin, Lin, Chun-Jen, Soong, Bing-Wen, Wang, Pei-Ning, Chang, Feng-Chi, Wu, Yu-Te, Chou, Kun-Hsien, Lin, Ching-Po, Tu, Pei-Chi, Lee, I-Hui

المصدر: Stroke (00392499); Oct2012, Vol. 43 Issue 10, p2567-2573, 7p

المؤلفون: Wang V, Chuang, Tzu-Chao, Kao MC, Shan DE, Soong BW, Shieh TM

المساهمون: 淡江大學化學學系

مصطلحات موضوعية: Parkinson's disease, Polymorphism, Ala carrier, HER2

العلاقة: Journal of the Neurological Sciences 325(1), p.115-119; 1878-5883; 0022-510X; https://tkuir.lib.tku.edu.tw/dspace/handle/987654321/98561Test; https://tkuir.lib.tku.edu.tw/dspace/bitstream/987654321/98561/2/index.htmlTest

الإتاحة: https://doi.org/10.1016/j.jns.2012.12.017Test
https://tkuir.lib.tku.edu.tw/dspace/handle/987654321/98561Test
https://tkuir.lib.tku.edu.tw/dspace/bitstream/987654321/98561/2/index.htmlTest