-
1دورية أكاديمية
المؤلفون: Indelicato, E, Reetz, K, Maier, S, Nachbauer, W, Amprosi, M, Giunti, P, Mariotti, C, Durr, A, de Rivera Garrido, FJR, Klopstock, T, Schöls, L, Klockgether, T, Bürk, K, Pandolfo, M, Didszun, C, Grobe-Einsler, M, Nanetti, L, Nenning, L, Kiechl, S, Dichtl, W, Ulmer, H, Schulz, JB, Boesch, S
المصدر: Movement Disorders (2023) (In press).
مصطلحات موضوعية: Friedreich's ataxia, cardiomyopathy, diabetes mellitus, disability stage, survival
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10184905/1/Predictors%20of%20Survival%20in%20Friedreich%20s%20Ataxia.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10184905Test/
-
2دورية أكاديمية
المؤلفون: Greten, S, Wegner, F, Jensen, I, Krey, L, Rogozinski, S, Fehring, M, Heine, J, Doll-Lee, J, Pötter-Nerger, M, Zeitzschel, M, Hagena, K, Pedrosa, DJ, Eggers, C, Bürk, K, Trenkwalder, C, Claus, I, Warnecke, T, Süß, P, Winkler, J, Gruber, D, Gandor, F, Berg, D, Paschen, S, Classen, J, Pinkhardt, EH, Kassubek, J, Jost, WH, Tönges, L, Kühn, AA, Schwarz, J, Peters, O, Dashti, E, Priller, J, Spruth, EJ, Krause, P, Spottke, A, Schneider, A, Beyle, A, Kimmich, O, Donix, M, Haussmann, R, Brandt, M, Dinter, E, Wiltfang, J, Schott, BH, Zerr, I, Bähr, M, Buerger, K, Janowitz, D, Perneczky, R, Rauchmann, BS, Weidinger, E, Levin, J, Katzdobler, S, Düzel, E, Glanz, W, Teipel, S, Kilimann, I, Prudlo, J, Gasser, T, Brockmann, K, Hoffmann, DC, Klockgether, T, Krause, O, Heck, J, Höglinger, GU, Klietz, M
المصدر: Journal of Neurology (2023) (In press).
مصطلحات موضوعية: Comorbidities, Drug–drug interactions, Polypharmacy, Progressive supranuclear palsy
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179818/1/s00415-023-12006-4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10179818Test/
-
3دورية أكاديمية
المؤلفون: Greten, S., Wegner, F., Jensen, I., Krey, L., Rogozinski, S., Fehring, M., Heine, J., Doll-Lee, J., Pötter-Nerger, M., Zeitzschel, M., Hagena, K., Pedrosa, D.J., Eggers, C., Bürk, K., Trenkwalder, C., Claus, I., Warnecke, T., Süß, P., Winkler, J., Gruber, D., Gandor, F., Berg, D., Paschen, S., Classen, J., Pinkhardt, E.H., Kassubek, J., Jost, W.H., Tönges, L., Kühn, A.A., Schwarz, J., Peters, O., Dashti, E., Priller, J., Spruth, E.J., Krause, P., Spottke, A., Schneider, A., Beyle, A., Kimmich, O., Donix, M., Haussmann, R., Brandt, M., Dinter, E., Wiltfang, J., Schott, B.H., Zerr, I., Bähr, M., Buerger, K., Janowitz, D., Perneczky, R., Rauchmann, B.-S., Weidinger, E., Levin, J., Katzdobler, S., Düzel, E., Glanz, W., Teipel, S., Kilimann, I., Prudlo, J., Gasser, T., Brockmann, K., Hoffmann, D.C., Klockgether, T., Krause, O., Heck, J., Höglinger, G.U., Klietz, M.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/207845/1/s00415-023-12006-4.pdfTest; Greten, S. orcid.org/0000-0003-0638-8571 , Wegner, F., Jensen, I. et al. (64 more authors) (2023) The comorbidity and co-medication profile of patients with progressive supranuclear palsy. Journal of Neurology. ISSN 0340-5354
الإتاحة: https://doi.org/10.1007/s00415-023-12006-4Test
https://eprints.whiterose.ac.uk/207845Test/
https://eprints.whiterose.ac.uk/207845/1/s00415-023-12006-4.pdfTest -
4دورية أكاديمية
المؤلفون: Indelicato, E, Nachbauer, W, Eigentler, A, Amprosi, M, Matteucci Gothe, R, Giunti, P, Mariotti, C, Arpa, J, Durr, A, Klopstock, T, Schöls, L, Giordano, I, Bürk, K, Pandolfo, M, Didszdun, C, Schulz, JB, Boesch, S, EFACTS (European Friedreich’s Ataxia Consortium for Translationa
المصدر: Orphanet Journal of Rare Diseases , 15 , Article 198. (2020)
مصطلحات موضوعية: Age at onset, Diagnostic delay, Friedreich’s Ataxia, Genetic testing, Natural history study
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10108048/1/s13023-020-01475-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10108048Test/
-
5دورية أكاديمية
المؤلفون: Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, Brouwer, O. F., Buerk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E., Sival, D. A.
المصدر: Brandsma , R , Verschuuren-Bemelmans , C C , Amrom , D , Barisic , N , Baxter , P , Bertini , E , Blumkin , L , Brankovic-Sreckovic , , Brouwer , O F , Buerk , K , Catsman-Berrevoets , C E , Craiu , D , de Coo , I F M , Gburek , J , Kennedy , C , de Koning , T J , Kremer , H P H , Kumar , R , Macaya , A , Micalizzi , A , Mirabelli-Badenier , M , Nemeth , A , Nuovo , ....
مصطلحات موضوعية: Early Onset Ataxia, Child, Algorithm, NGS techniques, Cerebellum, Diagnosis, VITAMIN-E-DEFICIENCY, OCULOMOTOR APRAXIA TYPE-2, FOLLOW-UP, RATING-SCALE, CEREBROTENDINOUS XANTHOMATOSIS, DIFFERENTIAL-DIAGNOSIS, SPASTIC PARAPLEGIA, CHILDREN, GENE, MUTATIONS
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ejpn.2019.08.004Test
https://hdl.handle.net/11370/2a948692-2a39-454b-91a4-45a7d9017467Test
https://research.rug.nl/en/publications/2a948692-2a39-454b-91a4-45a7d9017467Test
https://pure.rug.nl/ws/files/122115431/A_clinical_diagnostic_algorithm_for_early_onset.pdfTest -
6دورية أكاديمية
المؤلفون: Tanguy Melac, A, Mariotti, C, Filipovic Pierucci, A, Giunti, P, Arpa, J, Boesch, S, Klopstock, T, Müller Vom Hagen, J, Klockgether, T, Bürk, K, Schulz, JB, Reetz, K, Pandolfo, M, Durr, A, Tezenas du Montcel, S, EFACTS group
المصدر: Journal of Neurology Neurosurgery & Psychiatry (2017) (In press).
مصطلحات موضوعية: CCFS, SARA, SCA1,2,3,7, clinical score, friedreich ataxia
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10042841/1/Giunti_Text.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10042841Test/
-
7دورية أكاديمية
المؤلفون: Reetz, K, Dogan, I, Hilgers, R-D, Giunti, P, Mariotti, C, Durr, A, Boesch, S, Klopstock, T, Javier Rodriguez de Rivera, F, Schols, L, Klockgether, T, Buerk, K, Rai, M, Pandolfo, M, Schulz, JB
المصدر: The Lancet Neurology , 15 (13) pp. 1346-1354. (2016)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1540601/1/Giunti_THELANCETNEUROLOGY-D-16-00653%20FINAL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1540601Test/
-
8دورية أكاديمية
المؤلفون: Bürk K
مصطلحات موضوعية: idiopathische Ataxie, Multisystematrophie, Neurologie, Sporadische Ataxie, Zerebellum
-
9دورية أكاديمية
المؤلفون: Tezenas du Montcel, S, Durr, A, Rakowicz, M, Nanetti, L, Charles, P, Sulek, A, Mariotti, C, Rola, R, Schols, L, Bauer, P, Dufaure-Garé, I, Jacobi, H, Forlani, S, Schmitz-Hübsch, T, Filla, A, Timmann, D, van de Warrenburg, BP, Marelli, C, Kang, JS, Giunti, P, Cook, A, Baliko, L, Bela, M, Boesch, S, Szymanski, S, Berciano, J, Infante, J, Buerk, K, Masciullo, M, Di Fabio, R, Depondt, C, Ratka, S, Stevanin, G, Klockgether, T, Brice, A, Golmard, JL
المصدر: J Med Genet , 51 (7) pp. 479-486. (2014)
مصطلحات موضوعية: Movement disorders (other than Parkinsons)
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1429786/1/J_Med_Genet-2014-Tezenas_du_Montcel-479-86.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1429786Test/
-
10دورية أكاديمية
المؤلفون: Bürk, K, Farecki, M L, Lamprecht, G, Roth, G, Decker, P, Weller, M, Rammensee, H G, Oertel, W
المصدر: Bürk, K; Farecki, M L; Lamprecht, G; Roth, G; Decker, P; Weller, M; Rammensee, H G; Oertel, W (2009). Neurological symptoms in patients with biopsy proven celiac disease. Movement Disorders, 24(16):2358-2362.
مصطلحات موضوعية: Clinic for Neurology, 610 Medicine & health, Neurology, Clinical Neurology
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/24064/1/Buerk_V.pdfTest; https://www.zora.uzh.ch/id/eprint/24064/32/Buerk_Carl84_CD_Clinicb.pdfTest; info:pmid/19845007; urn:issn:0885-3185
الإتاحة: https://doi.org/10.5167/uzh-2406410.1002/mds.22821Test
https://www.zora.uzh.ch/id/eprint/24064Test/
https://www.zora.uzh.ch/id/eprint/24064/1/Buerk_V.pdfTest
https://www.zora.uzh.ch/id/eprint/24064/32/Buerk_Carl84_CD_Clinicb.pdfTest
