المؤلفون: Ostrozovicova, M, Dusek, P, Grofik, M, Han, V, Holly, P, Jech, R, Klivenyi, P, Kovacs, N, Kulcsarova, K, Kurca, E, Lackova, A, Magocova, V, Necpal, J, Pinter, D, Ruzicka, E, Serranova, T, Smilowska, K, Straka, I, Svorenova, T, Tamas, G, Valkovic, P, Zarubova, K, Houlden, H, Rizig, M, Skorvanek, M

المصدر: European Journal of Neurology (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10184246/1/Central%20European%20Group%20on%20Genetics%20of%20Movement%20Disorders.pdf; https://discovery.ucl.ac.uk/id/eprint/10184246/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10184246/1/Central%20European%20Group%20on%20Genetics%20of%20Movement%20Disorders.pdf
https://discovery.ucl.ac.uk/id/eprint/10184246/

المؤلفون: Skorvanek, M, Rektorova, I, Mandemakers, W, Wagner, M, Steinfeld, R, Orec, L, Han, V, Pavelekova, P, Lackova, A, Kulcsarova, K, Ostrozovicova, M, Gdovinova, Z, Plecko, B, Brunet, T, Berutti, R, Kuipers, DJS, Boumeester, V, Havrankova, P, Tijssen, MAJ, Kaiyrzhanov, R, Rizig, M, Houlden, H, Winkelmann, J, Bonifati, V, Zech, M, Jech, R

المصدر: Parkinsonism & Related Disorders , 94 pp. 54-61. (2022)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10177995/3/Rizig_WARS2%20mutations%20cause%20dopa-responsive%20early-onset%20parkinsonism%20and%20progressive%20myoclonus%20ataxia_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10177995/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10177995/3/Rizig_WARS2%20mutations%20cause%20dopa-responsive%20early-onset%20parkinsonism%20and%20progressive%20myoclonus%20ataxia_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10177995/

المؤلفون: Zech, M., Jech, R., Boesch, S., Škorvánek, M., Necpál, J., Švantnerová, J., Wagner, M., Sadr-Nabavi, A., Distelmaier, F., Krenn, M., Serranová, T., Rektorová, I., Havránková, P., Mosejová, A., Příhodová, I., Šarláková, J., Kulcsarová, K., Ulmanová, O., Bechyně, K., Ostrozovičová, M., Haň, V., Ventosa, J.R., Brunet, T., Berutti, R., Shariati, M., Shoeibi, A., Schneider, S.A., Kuster, A., Baumann, M., Weise, D., Wilbert, F., Janzarik, W.G., Eckenweiler, M., Mall, V., Haslinger, B., Berweck, S., Winkelmann, J., Oexle, K.

المصدر: Mov. Disord. 36, 959-1964 (2021)

مصطلحات موضوعية: Diagnostic Yield, Dystonia, Exome Sequencing, Prediction, Rare Disease, Scoring Algorithm

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/33949708; info:eu-repo/semantics/altIdentifier/wos/WOS:000647023100001; info:eu-repo/semantics/altIdentifier/isbn/0885-3185; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61940; urn:isbn:0885-3185; urn:issn:0885-3185; urn:issn:1531-8257

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61940
https://doi.org/10.1002/mds.28614

المؤلفون: Harrer, P., Škorvánek, M., Kittke, V., Dzinovic, I., Borngräber, F., Thomsen, M., Mandel, V., Svorenova, T., Ostrozovičová, M., Kulcsarová, K., Berutti, R., Busch, H., Ott, F., Kopajtich, R., Prokisch, H., Kumar, K.R., Mencacci, N.E., Kurian, M.A., Di Fonzo, A., Boesch, S., Kühn, A.A., Blümlein, U., Lohmann, K., Haslinger, B., Weise, D., Jech, R., Winkelmann, J., Zech, M.

المصدر: Mov. Disord. 38, 1914-1924 (2023)

مصطلحات موضوعية: Eif4a2, Dystonia, Loss-of-function Variants, Translational Dysfunction, Tremor

Relation: info:eu-repo/semantics/altIdentifier/pmid/37485550; info:eu-repo/semantics/altIdentifier/wos/001033731000001; info:eu-repo/semantics/altIdentifier/isbn/0885-3185; info:eu-repo/semantics/altIdentifie

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68072
https://doi.org/10.1002/mds.29562

المؤلفون: Arnaldi, D., Mattioli, P., Perissinotti, A., Liguori, C., Dušek, P., Miyagawa, T., Miyamoto, M., Puligheddu, M., Hu, M., Kunz, D., Cochen De Cock, V., Antelmi, E., Terzaghi, M., Kulcsárová, K., Martino, Alessio, Giuliani, A., Morbelli, S.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3704::e48eae20975fbad623da9c6398edae55
https://hdl.handle.net/11385/229598

المؤلفون: Škorvánek, M., Baloghova, J., Kulcsarová, K., Winkelmann, J., Jech, R., Ostrozovičová, M., Zech, M.

المصدر: Mov. Disord. 37, 2323-2324 (2022)

Relation: info:eu-repo/semantics/altIdentifier/pmid/36221194; info:eu-repo/semantics/altIdentifier/wos/WOS:000866084800001; info:eu-repo/semantics/altIdentifier/isbn/0885-3185; info:eu-repo/semantics/altIdent

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66432
https://doi.org/10.1002/mds.29245

المؤلفون: Škorvánek, M., Rektorová, I., Mandemakers, W., Wagner, M., Steinfeld, R., Orec, L., Han, V., Pavelekova, P., Lackova, A., Kulcsarová, K., Ostrozovičová, M., Gdovinova, Z., Plecko, B., Brunet, T., Berutti, R., Kuipers, D.J.S., Boumeester, V., Havránková, P., Tijssen, M.A.J., Kaiyrzhanov, R., Rizig, M., Houlden, H., Winkelmann, J., Bonifati, V., Zech, M., Jech, R.

المصدر: Parkinsonism Relat. Disord. 94, 54-61 (2022)

مصطلحات موضوعية: Early Onset Parkinsonism, Progressive Myoclonus Ataxia, Wars2, Whole Exome Sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/34890876; info:eu-repo/semantics/altIdentifier/wos/WOS:000748987300009; info:eu-repo/semantics/altIdentifier/isbn/1353-8020; info:eu-repo/sem

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63780
https://doi.org/10.1016/j.parkreldis.2021.11.030

المؤلفون: Zech, M., Boesch, S., Škorvánek, M., Necpál, J., Švantnerová, J., Wagner, M., Dincer, Y., Sadr-Nabavi, A., Serranová, T., Rektorová, I., Havránková, P., Ganai, S., Mosejová, A., Příhodová, I., Šarláková, J., Kulcsarová, K., Ulmanová, O., Bechyně, K., Ostrozovičová, M., Haň, V., Ventosa, J.R., Shariati, M., Shoeibi, A., Weber, S., Mollenhauer, B., Trenkwalder, C., Berutti, R., Strom, T.M., Ceballos-Baumann, A., Mall, V., Haslinger, B., Jech, R., Winkelmann, J.

المصدر: Parkinsonism Relat. Disord. 84, 129-134 (2021)

مصطلحات موضوعية: Copy-number Variant, Diagnostic Yield, Dystonia, Read-depth Analysis

Relation: info:eu-repo/semantics/altIdentifier/pmid/33611074; info:eu-repo/semantics/altIdentifier/wos/WOS:000628766400001; info:eu-repo/semantics/altIdentifier/isbn/1353-8020; info:eu-repo/sem

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61391
https://doi.org/10.1016/j.parkreldis.2021.02.013

المؤلفون: D. Arnaldi, P. Mattioli, A. Perissinotti, C. Liguori, P. Dušek, T. Miyagawa, M. Miyamoto, M. Puligheddu, M. Hu, D. Kunz, V. Cochen De Cock, E. Antelmi, M. Terzaghi, K. Kulcsárová, A. Martino, A. Giuliani, S. Morbelli

المساهمون: Arnaldi, D., Mattioli, P., Perissinotti, A., Liguori, C., Dušek, P., Miyagawa, T., Miyamoto, M., Puligheddu, M., Hu, M., Kunz, D., Cochen De Cock, V., Antelmi, E., Terzaghi, M., Kulcsárová, K., Martino, Alessio, Giuliani, A., Morbelli, S.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001058307000104; volume:30; issue:S1; firstpage:80; lastpage:80; numberofpages:1; journal:EUROPEAN JOURNAL OF NEUROLOGY; https://hdl.handle.net/11385/229598

الاتاحة: https://hdl.handle.net/11385/229598
https://doi.org/10.1111/ene.15948