المؤلفون: Svihlik, Jan, Novotny, Michal, Tykalova, Tereza, Polakova, Kamila, Brozova, Hana, Kryze, Petr, Sousa, Mario, Krack, Paul, Tripoliti, Elina, Ruzicka, Evzen, Jech, Robert, Rusz, Jan (ORCID 0000-0002-1036-3054)

المصدر: Journal of Speech, Language, and Hearing Research. Dec 2022 65(12):4690-4699.

تمت مراجعته من قبل الزملاء: Y

Page Count: 10

الواصفات: Neurological Impairments, Articulation Impairments, Symptoms (Individual Disorders), Stimulation, Brain, Speech Communication, Speech Impairments, Severity (of Disability), Therapy, Adults, Program Effectiveness

المؤلفون: Fečíková, A., Jech, Robert, Roth, Jan, Bareš, Martin, Černá, Olga, Libá, Zuzana, Kemlink, David, Fiksa, Jan, Křepelová, Anna, Urgošík, Dušan

المساهمون: Fečíková, A., Jech, Robert, Roth, Jan , 1961-, Bareš, Martin , 1968-, Černá, Olga, Libá, Zuzana, Kemlink, David, Fiksa, Jan, Křepelová, Anna , 1955-, Urgošík, Dušan , 1958-

المصدر: Česká a slovenská neurologie a neurochirurgie : časopis českých a slovenských neurologů a neurochirurgů | 2015 Volume:78-111 | Number:5

الإتاحة: https://cdk.lib.cas.cz/client/handle/uuid:bmc15033033-285ab21a-1c80-4fa1-a4a9-a2f8480ad8c2Test
http://www.prolekare.cz/ceska-slovenska-neurologie-clanek/akutni-hyperkineticke-syndromy-lecene-stereotaktickym-neurochirurgickym-zakrokem-tri-kazuistiky-56007Test

المؤلفون: Fečíková, A., Jech, Robert, Roth, Jan , 1961-, Bareš, Martin , 1968-, Černá, Olga, Libá, Zuzana, Kemlink, David, Fiksa, Jan, Křepelová, Anna , 1955-, Urgošík, Dušan , 1958-, Fečíková, A., Jech, Robert, Roth, Jan, Bareš, Martin, Černá, Olga, Libá, Zuzana, Kemlink, David, Fiksa, Jan, Křepelová, Anna, Urgošík, Dušan

الوصول الحر: https://www.europeana.eu/item/336/uuid_bmc15033033_285ab21a_1c80_4fa1_a4a9_a2f8480ad8c2?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCaTest

المؤلفون: Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

المصدر: Smallwood , K , Watt , K E N , Ide , S , Baltrunaite , K , Brunswick , C , Inskeep , K , Capannari , C , Adam , M P , Begtrup , A , Bertola , D R , Demmer , L , Demo , E , Devinsky , O , Gallagher , E R , Guillen Sacoto , M J , Jech , R , Keren , B , Kussmann , J , Ladda , R , Lansdon , L A , Lunke , S , Mardy , A , McWalters , K ....

العلاقة: https://pure.eur.nl/en/publications/04798803-ca47-4dc5-ba09-751d4505ba47Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.03.014Test
https://pure.eur.nl/en/publications/04798803-ca47-4dc5-ba09-751d4505ba47Test
http://www.scopus.com/inward/record.url?scp=85153621066&partnerID=8YFLogxKTest

المؤلفون: Harrer, Philip, Skorvanek, Matej, Kittke, Volker, Dzinovic, Ivana, Borngraeber, Friederike, Thomsen, Mirja, Mandel, Vanessa, Svorenova, Tatiana, Ostrozovicova, Miriam, Kulcsarova, Kristina, Berutti, Riccardo, Busch, Hauke, Ott, Fabian, Kopajtich, Robert, Prokisch, Holger, Kumar, Kishore R, Mencacci, Niccolo E, Kurian, Manju A, Di Fonzo, Alessio, Boesch, Sylvia, Kuehn, Andrea A, Bluemlein, Ulrike, Lohmann, Katja, Haslinger, Bernhard, Weise, David, Jech, Robert, Winkelmann, Juliane, Zech, Michael

المصدر: Movement Disorders (2023)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, loss-of-function variants, translational dysfunction, dystonia, tremor, DEVELOPMENTAL DELAY, VARIANTS, EIF2-ALPHA, MUTATIONS, GENES

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10175715/1/Movement%20Disorders%20-%202023%20-%20Harrer.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10175715Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10175715/1/Movement%20Disorders%20-%202023%20-%20Harrer.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10175715Test/

المؤلفون: Ostrozovicova, Miriam, Dusek, Petr, Grofik, Milan, Han, Vladimir, Holly, Petr, Jech, Robert, Klivenyi, Peter, Kovacs, Norbert, Kulcsarova, Kristina, Kurca, Egon, Lackova, Alexandra, Magocova, Veronika, Necpal, Jan, Pinter, David, Ruzicka, Evzen, Serranova, Tereza, Smilowska, Katarzyna, Straka, Igor, Svorenova, Tatiana, Tamas, Gertrud, Valkovic, Peter, Zarubova, Katerina, Houlden, Henry, Rizig, Mie, Skorvanek, Matej

المساهمون: Agentura Pro Zdravotnický Výzkum České Republiky

المصدر: European Journal of Neurology ; volume 31, issue 4 ; ISSN 1351-5101 1468-1331

الإتاحة: https://doi.org/10.1111/ene.16165Test

المؤلفون: Dzinovic, Ivana, Graf, Elisabeth, Brugger, Melanie, Berutti, Riccardo, Příhodová, Iva, Blaschek, Astrid, Winkelmann, Juliane, Jech, Robert, Vill, Katharina, Zech, Michael

المساهمون: Technische Universität München

المصدر: Movement Disorders Clinical Practice ; volume 10, issue 7, page 1159-1161 ; ISSN 2330-1619 2330-1619

الإتاحة: https://doi.org/10.1002/mdc3.13793Test

المؤلفون: Mala, Christiane, Havlík, Filip, Mana, Josef, Nepožitek, Jiří, Dostálová, Simona, Růžička, Evžen, Šonka, Karel, Keller, Jiří, Jech, Robert, Dušek, Petr, Bezdicek, Ondrej, Krupička, Radim

المساهمون: Ministerstvo Zdravotnictví Ceské Republiky, National Institute for Neurological Research, Univerzita Karlova v Praze

المصدر: Neurological Sciences ; volume 45, issue 2, page 613-627 ; ISSN 1590-1874 1590-3478

مصطلحات موضوعية: Psychiatry and Mental health, Neurology (clinical), Dermatology, General Medicine

الإتاحة: https://doi.org/10.1007/s10072-023-07040-zTest

المؤلفون: Oexle, Konrad, Zech, Michael, Stühn, Lara G., Siegert, Sandy, Brunet, Theresa, Schmidt, Wolfgang M., Wagner, Matias, Schmidt, Axel, Engels, Hartmut, Tilch, Erik, Monestier, Olivier, Destrėe, Anne, Hanker, Britta, Boesch, Sylvia, Jech, Robert, Berutti, Riccardo, Kaiser, Frank, Haslinger, Bernhard, Haack, Tobias B., Garavaglia, Barbara, Krawitz, Peter, Winkelmann, Juliane, Mirza-Schreiber, Nazanin

المساهمون: Helmholtz Association, Deutsche Forschungsgemeinschaft

المصدر: European Journal of Human Genetics ; volume 31, issue 9, page 1032-1039 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-023-01406-9Test
https://www.nature.com/articles/s41431-023-01406-9.pdfTest
https://www.nature.com/articles/s41431-023-01406-9Test

المؤلفون: Fasano, Alfonso, García-Ramos, Rocío, Gurevich, Tanya, Jech, Robert, Bergmann, Lars, Sanchez-Soliño, Olga, Parra, Juan Carlos, Simu, Mihaela

المصدر: Journal of Neurology ; volume 270, issue 5, page 2765-2775 ; ISSN 0340-5354 1432-1459

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1007/s00415-023-11615-3Test