https://m2.mtmt.hu/ eng 2026-10-23 17:47 JournalArticle 34075230 VALIDATED true 0 false 2026-10-08T09:09:20.940+0000 2023-09-22T11:51:20.341+0000 2023-07-25T11:26:06.869+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin true 10062250 2023-10-19T15:14:42.143+0000 2023-10-19T15:14:42.143+0000 2023-07-25T12:09:28.443+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin true 10062250 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Salamon, A. Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants true true /api/journal/10003252 REVIEWED true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 24 13 10745 10745 10 2023 Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years. For the next-generation sequencing (NGS) approach, 30 genes were selected on the basis of a thorough search of the scientific literature. Assessment of 30 CD- and BSP-associated genes from 121 patients revealed a total of 209 different heterozygous variants in 24 genes. Established clinical and genetic validity was determined for nine heterozygous variations (three likely pathogenic and six variants of uncertain significance). Detailed genetic examination is an important part of the work-up for focal dystonia forms. To our knowledge, our investigation is the first such study to be carried out in the Middle-European region. © 2023 by the authors. 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(SZTE / SZAOK / OGI); Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I); Neurológiai Klinika (SZTE / SZAOK); Orvosi Genetikai Intézet (SZTE / SZAOK) 8 35 4 10 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 109370563 /api/authorship/109370563 1 0.1 true false false Author 10061613 /api/author/10061613 Salamon András true 10061613 true Salamon A. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109370564 /api/authorship/109370564 2 0.1 true false false Author 10065771 /api/author/10065771 Nagy Zsófia Flóra true true Nagy Z.F. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109370565 /api/authorship/109370565 3 0.1 false false false Author 10025193 /api/author/10025193 Pál Margit true 10025193 true Pál M. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109370566 /api/authorship/109370566 4 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src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10061613"><a href="/gui2/?type=authors&mode=browse&sel=10061613" target="_blank">Salamon A. (<span class="authorship-author-name">Salamon András</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Neurology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10065771"><a href="/gui2/?type=authors&mode=browse&sel=10065771" target="_blank">Nagy Z.F.<sup>*</sup> (<span class="authorship-author-name">Nagy Zsófia Flóra</span> <span class="authorAux-mtmt"> genetika</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Medical Genetics; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025193"><a href="/gui2/?type=authors&mode=browse&sel=10025193" target="_blank">Pál M. (<span class="authorship-author-name">Pál Margit</span> <span class="authorAux-mtmt"> biokémia</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Medical Genetics; <span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/<span title="Department of Medical Genetics">DMG</span>/ELKH-SZTE Functional Clinical Genetics Research Group </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szabó M. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Csősz Á. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10052854"><a href="/gui2/?type=authors&mode=browse&sel=10052854" target="_blank">Szpisjak L. (<span class="authorship-author-name">Szpisjak László</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Neurology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10029452"><a href="/gui2/?type=authors&mode=browse&sel=10029452" target="_blank">Gárdián G. (<span class="authorship-author-name">Gárdián Gabriella</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Neurology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10028202"><a href="/gui2/?type=authors&mode=browse&sel=10028202" target="_blank">Zádori D. (<span class="authorship-author-name">Zádori Dénes</span> <span class="authorAux-mtmt"> idegtudományok</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Neurology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10011063"><a href="/gui2/?type=authors&mode=browse&sel=10011063" target="_blank">Széll M.<sup>**</sup> (<span class="authorship-author-name">Széll Márta</span> <span class="authorAux-mtmt"> Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Medical Genetics; <span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/<span title="Department of Medical Genetics">DMG</span>/ELKH-SZTE Functional Clinical Genetics Research Group </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10010436"><a href="/gui2/?type=authors&mode=browse&sel=10010436" target="_blank">Klivényi P. ✉ (<span class="authorship-author-name">Klivényi Péter</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Neurology</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34075230" target="_blank">Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants</a></div> <div> <span class="journal-title">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1661-6596">1661-6596</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1422-0067">1422-0067</a>)</span>: <span class="journal-volume">24</span> <span class="journal-issue">13</span> <span class="page"> Paper 10745. 10 p. </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/ijms241310745" target="_blank" href="https://doi.org/10.3390/ijms241310745"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001033294000001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001033294000001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85164846986" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85164846986"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37445923" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37445923&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="28020" target="_blank" href="http://publicatio.bibl.u-szeged.hu/28020"> SZTE Publicatio </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Inorganic Chemistry&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> <div class="journal-subject">Journal subject: Scopus - Organic Chemistry&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> <div class="journal-subject">Journal subject: Scopus - Spectroscopy&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> <div class="journal-subject">Journal subject: Scopus - Computer Science Applications&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Physical and Theoretical Chemistry&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Catalysis&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Molecular Biology&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 6</span> | Independent citation: 5 | Self citation: 1 | Unknown citation: 0 | Number of citations in WoS: 6 | Number of citations in Scopus:&nbsp;5 | WoS/Scopus assigned:&nbsp;6 | Number of citations with DOI:&nbsp;6 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;34075230&sort=publishedYear,desc&sort=title"> Number of cited publications: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 34075230</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">Scopus</span> </div> <div class="funder"> (2017-1-1.1.2.1-NKP-2017-0002), (TKP2021-EGA-32) Funder: NRDIO, (FEIF/646-4/2021-ITM_SZERZ), (Young Talents–NTP-NFTÖ-21-B-0100) </div> <div class="lastModified">Last Modified: 2023.09.22. 13:51 Andrea Tóth (SZTE admin5 ÁOK Neurológiai Klinika) </div> </div></div>