https://m2.mtmt.hu/ hun 2026-09-22 21:18 JournalArticle 32756210 VALIDATED true 0 false 2026-07-22T13:15:16.291+0000 2022-08-02T11:38:04.045+0000 2022-03-24T14:17:06.855+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2022-08-02T11:37:39.209+0000 2022-08-02T11:37:39.209+0000 2022-08-02T11:38:04.055+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 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 Mancuso, Michelangelo How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey true true /api/journal/12149 REVIEWED true false 12149 false 12149 true 1351-5101 1468-1331 Journal FOREIGN 29 7 1885 1891 1885 7 2022 Abstract Background and purpose Seven thousand rare diseases have been identified; most of them are of genetic origin. The diagnosis of a neurogenetic disease is difficult, and management and training programs are not well defined through Europe. To capture and assess care needs, the Neurogenetics Panel of the European Academy of Neurology (EAN) has performed an explorative survey. Methods The survey covering multiple topics of neurogenetics was sent to all neurologists and neuropediatricians affiliated with the EAN practicing in Europe. Results We collected answers from 239 members based in 40 European member states. Even though most of the responders were aware of neurogenetic diseases, when we came to amenability of carrying out a complete genetic diagnosis, almost one-third of the responders declared they were not happy with the current way of ordering genetic analyses in their countries. Furthermore, although single-gene analysis is diffusely present in Europe, whole exome and genome sequencing are not easily accessible, with considerable variabilities among countries. Almost 10% of the responders did not know if presymptomatic and prenatal diagnosis was available in their countries, and 47.3% were not aware of which newborn screening programs were available. Finally, 96.3% of responders declared that there is a need for education and training in neurogenetics. Conclusions We believe that this survey may be of importance for all European stakeholders in neurogenetics in identifying key priorities, targeting areas to encourage education/travel fellowships, and educational seminars in the future, because this area will only accelerate, and diagnostic requirements will expand. Funding 2012061 /api/funding/2012061 false true 2022 true true true false false NONE 2026-07-22 false 10 0 10 7 0 10 10 10 10 10 10 7 7 7 3 0 10 7 10 7 0 0 0 Folyóiratcikk Journal Article 24 10 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2023 0 4 2 4 2 2024 0 1 1 1 1 2025 0 4 3 4 3 2026 0 1 1 1 1 Q1 false 10002781 false false false 2022-06-22T13:20:13.742+0000 Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 1 8 1 8 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 101151875 /api/authorship/101151875 1 0.125 true false true Mancuso Michelangelo true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 101151876 /api/authorship/101151876 2 0.125 false false false Houlden Henry true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 101151877 /api/authorship/101151877 3 0.125 false false false Author 10002781 /api/author/10002781 Molnár Mária Judit true 10002781 true Molnar Maria Judit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 101151878 /api/authorship/101151878 4 0.125 false false false Filla Alessandro true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 101151879 /api/authorship/101151879 5 0.125 false false false Breza Marianthi true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 101151880 /api/authorship/101151880 6 0.125 false false false Graessner Holm true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 101151881 /api/authorship/101151881 7 0.125 false false false Bassetti Claudio L. A. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 101151882 /api/authorship/101151882 8 0.125 false true false Boesch Sylvia true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 20812772 /api/publicationidentifier/20812772 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true NONE IDENTICAL 10.1111/ene.15320 https://doi.org/10.1111/ene.15320 false true PublicationIdentifier 20852600 /api/publicationidentifier/20852600 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000771558100001 https://www.webofscience.com/wos/woscc/full-record/000771558100001 true true PublicationIdentifier 20876240 /api/publicationidentifier/20876240 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true 85127341143 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85127341143 true true PublicationIdentifier 20852603 /api/publicationidentifier/20852603 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true 35271759 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=35271759&dopt=Abstract true true Keyword 2 /api/keyword/2 true 2 true Keyword 5351 /api/keyword/5351 true 5351 true Keyword 1032376 /api/keyword/1032376 true 1032376 true Keyword 1268830 /api/keyword/1268830 true 1268830 true Keyword 1497899 /api/keyword/1497899 true true SjrRating 11314739 /api/sjrrating/11314739 49 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2728 /api/classificationexternal/2728 true 2728 true Q1 DIRECT true true /api/publication/32756210 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" >Mancuso Michelangelo ✉ </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Houlden Henry </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnar Maria Judit (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Filla Alessandro </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Breza Marianthi </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Graessner Holm </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Bassetti Claudio L. A. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Boesch Sylvia </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;32756210" target="_blank">How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey</a></div> <div> <span class="journal-title">EUROPEAN JOURNAL OF NEUROLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1351-5101">1351-5101</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1468-1331">1468-1331</a>)</span>: <span class="journal-volume">29</span> <span class="journal-issue">7</span> <span class="page"> pp 1885-1891 </span> <span class="year">(2022)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_NONE" title=" Nincs "> <a style="color:blue" title="10.1111/ene.15320" target="_blank" href="https://doi.org/10.1111/ene.15320"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000771558100001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000771558100001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="85127341143" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85127341143"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="35271759" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=35271759&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Neurology (clinical)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Neurology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 10</span> | Független: 7 | Függő: 3 | Nem jelölt: 0 | WoS jelölt: 10 | Scopus jelölt:&nbsp;10 | WoS/Scopus jelölt:&nbsp;10 | DOI jelölt:&nbsp;10 </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 32756210</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">RIS-Egyéb</span> </div> <div class="funder"> European Reference Network for Rare Neurological Diseases(739510) </div> <div class="lastModified">Utolsó módosítás: 2022.08.02. 13:38 Csajbók Edit (SE_KK_Admin5_CSE, admin) </div> </div></div>