https://m2.mtmt.hu/ eng 2026-04-17 23:54 true true 1 3 3 1 100 1 3 DESC publishedYear false ASC firstAuthor true ASC title true JournalArticle 3120636 VALIDATED true 0 2018-09-10T07:10:43.000+0000 false 3120636 2026-01-13T12:31:14.277+0000 2021-11-25T11:59:53.890+0000 2016-10-04T06:12:05.000+0000 true 10023607 Arányi Zsuzsanna /api/author/10023607 Author true 10023607 2022-02-14T16:09:16.397+0000 2022-02-14T16:09:16.397+0000 2021-11-25T11:59:53.904+0000 true 10026589 Tichy Rita /api/admin/10026589 Admin true 10026589 Admin 10003133 /api/admin/10003133 Boros Annamária true 10003133 true 2023-12-01T09:58:44.429+0000 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 Csillik, Anita Transthyretin familiáris amyloid polyneuropathia - három magyarországi eset ritka mutációkkal (His88Arg és Phe33Leu) Transthyretin familial amyloid polyneuropathy – three hungarian cases with rare mutations (His88Arg andPphe33Leu) true true /api/journal/2088240 REVIEWED true true 2088240 false 2088240 true 0019-1442 2498-6208 Journal FOREIGN_AND_HUNGARIAN 69 7-8 245 253 245 9 2016 2016 (Arányi Zsuzsanna (Epilepszia, Elektrofizi...); 2016.10.04. 08:11:45) false false true false true false NONE 2026-01-13 false true 10032489 Lantos Edit /api/admin/10032489 Admin true 10032489 6 0 6 5 2 6 6 5 6 6 6 5 5 5 1 0 6 5 6 5 0 0 0 Q4 A false false false false 2016-10-06T12:48:02.000+0000 2016-10-04T06:18:04.000+0000 III. 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DIRECT true true /api/publication/3120636 <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" mtid="10066421"><a href="/gui2/?type=authors&mode=browse&sel=10066421" target="_blank">Csillik Anita ✉ (<span class="authorship-author-name">Csillik Anita</span> <span class="authorAux-mtmt"> neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Neurology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10070391"><a href="/gui2/?type=authors&mode=browse&sel=10070391" target="_blank">Soós Krisztina (<span class="authorship-author-name">Soós Krisztina</span> <span class="authorAux-mtmt"> neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Neurology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024568"><a href="/gui2/?type=authors&mode=browse&sel=10024568" target="_blank">Pozsonyi Zoltán (<span class="authorship-author-name">Pozsonyi Zoltán</span> <span class="authorAux-mtmt"> belgyógyászat, kardiológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/III. Department of Internal Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10003267"><a href="/gui2/?type=authors&mode=browse&sel=10003267" target="_blank">Balogh István (<span class="authorship-author-name">Balogh István</span> <span class="authorAux-mtmt"> Klinikai laboratóriumi genetika</span>) </a> </span> <span class="author-affil"><span title="University of Debrecen">UD</span>/<span title="Faculty of Medicine">Faculty of Medicine</span>/<span title="Department of Laboratory Medicine">DLM</span>/Klinikai Genetikai Nem Önálló Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10003510"><a href="/gui2/?type=authors&mode=browse&sel=10003510" target="_blank">Bodó Imre (<span class="authorship-author-name">Bodó Imre</span> <span class="authorAux-mtmt"> Belgyógyászat, haematológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10023607"><a href="/gui2/?type=authors&mode=browse&sel=10023607" target="_blank">Arányi Zsuzsanna (<span class="authorship-author-name">Arányi Zsuzsanna</span> <span class="authorAux-mtmt"> Epilepszia, Elektrofiziológia (ENG, EMG), Ideg ...</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Neurology</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;3120636" target="_blank">Transthyretin familiáris amyloid polyneuropathia - három magyarországi eset ritka mutációkkal (His88Arg és Phe33Leu)</a></div> <div> <span class="journal-title">IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0019-1442">0019-1442</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/2498-6208">2498-6208</a>)</span>: <span class="journal-volume">69</span> <span class="journal-issue">7-8</span> <span class="page"> pp 245-253 </span> <span class="year">(2016)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: Hungarian | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.18071/isz.69.0245" target="_blank" href="https://doi.org/10.18071/isz.69.0245"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000380866700005" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000380866700005"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="84984621725" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-84984621725"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="29465889" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=29465889&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="2442253" target="_blank" href="https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=2442253"> Matarka </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="121182" target="_blank" href="https://mob.aeek.hu/detailsperm.jsp?PERMID=121182"> MOB </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Neurology (clinical)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q4</div> <div class="journal-subject">Journal subject: Scopus - Neurology&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q4</div> <div class="journal-subject">Committee on Psychology HASSPHSII PsziTB [1901-]&nbsp;&nbsp;&nbsp;A</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: 5 | Number of citations in Scopus:&nbsp;6 | WoS/Scopus assigned:&nbsp;6 | Number of citations with DOI:&nbsp;6 </div> <div class="mtid"><span class="long-pub-mtid">Publication: 3120636</span> | <span class="status-data status-VALIDATED"> Validated </span> <span class="oldId">Old id: 3120636</span> | Core | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">Matarka</span> </div> <div class="special-affiliations"> Special affiliation: Ideggyógyászati Szemle szerkesztősége </div> <div class="lastModified">Last Modified: 2021.11.25. 12:59 Rita Tichy (SE_KK_Admin5_TR, admin) </div> <div class="lockedBy">Centrally managed 2023.12.01. 10:58 Annamária Boros (MTMT Központi admin) </div> </div></div> JournalArticle 1661664 VALIDATED true 0 2014-08-14T20:07:04.000+0000 false 1661664 2025-12-21T03:48:17.323+0000 2025-05-09T12:13:22.666+0000 2011-07-28T08:35:17.000+0000 true 10010173 Nyakas Csaba /api/author/10010173 Author true 10010173 2025-05-09T12:13:22.041+0000 2025-05-09T12:13:22.041+0000 2025-05-09T12:13:22.821+0000 true 10067876 Ladányi Gusztáv /api/admin/10067876 Admin true Admin 10067876 /api/admin/10067876 Ladányi Gusztáv true true 2025-05-09T12:13:22.340+0000 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 Harkany, T Cutaneous lymphatic amyloid deposits in 'Hungarian-type' familial transthyretin amyloidosis: a case report true true /api/journal/812 REVIEWED true false 812 false 812 true 0007-0963 1365-2133 Journal FOREIGN 146 4 674 679 674 6 2002 Multiple transthyretin (TTR) mutations have recently been identified and implicated in the development of familial systemic amyloidoses, but early diagnosis of these disorders is still largely unresolved. We investigated the presence and tissue distribution of TTR-derived amyloid in skin biopsies of a 59-year-old woman carrying the 'Hungarian-type' mutation of TTR (Asp18Gly). Clinical symptoms involved severe central nervous system dysfunction without signs of polyneuropathy, also referred to as the 'central form' of TTR-related systemic amyloidosis. Skin biopsy was also evaluated as a tool in order to diagnose this type of TTR amyloidosis. Biopsy samples were collected from the infra-axillary region. Light microscopy using Congo red and polarized light was used to diagnose amyloid deposits. Subsequently, electron microscopic analysis was performed to correlate the amyloid deposits with vicinal dermal structures. The amyloid class was determined by means of immunocytochemistry. TTR amyloid was primarily localized to lymphatic microvessels in the present case, whereas arterioles were devoid of TTR amyloid deposits. In addition, the well-known association of TTR amyloid with neural structures along the erector pilorum and around the sebaceous and serosal (sweat) glands was also evident. Electron microscopic analysis of amyloid deposits revealed characteristic amyloid fibrils that were irregular in shape, and exhibited a heterogeneous density and a random deposition pattern. Immunocytochemistry confirmed the cutaneous accumulation of TTR amyloid. In conclusion, amyloid deposits were abundantly present in the skin of a patient with 'Hungarian-type' TTR amyloidosis; skin biopsy seems to be appropriate for the diagnosis of this disorder. We showed that besides the erector pilorum, sweat glands and nerve terminals, lymphatic microvessels are also severely infiltrated by TTR amyloid. Whether these pathological alterations can exclusively be found in 'Hungarian-type' TTR amyloidosis should still be investigated. If such changes are not specific for the Asp18Gly mutation, they may be considered as diagnostic markers for 'central' TTR amyloid disorders. 2011 true true true false false NONE 2025-12-21 false 9 0 9 8 4 7 8 8 7 9 9 8 8 8 1 0 9 8 9 8 0 2 2 D1 false false false false 2014-01-15T13:21:12.000+0000 2013-01-25T11:59:51.000+0000 1 24 0 7 0 true 10067876 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 1845441 /api/authorship/1845441 1 0.14285715 true false Harkany T true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 13268839 true PersonAuthorship 1845442 /api/authorship/1845442 2 0.14285715 false false Garzuly F true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 13268838 true PersonAuthorship 1845443 /api/authorship/1845443 3 0.14285715 false false Csanaky G true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 13268837 true PersonAuthorship 1845444 /api/authorship/1845444 4 0.14285715 false false Luiten P G M true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 13268836 true PersonAuthorship 1845445 /api/authorship/1845445 5 0.14285715 false false Author 10010173 /api/author/10010173 Nyakas Csaba true 10010173 true Nyakas C true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 13268835 true PersonAuthorship 1845446 /api/authorship/1845446 6 0.14285715 false false Linke R P true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 13268834 true PersonAuthorship 1845447 /api/authorship/1845447 7 0.14285715 false true Virágh S true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false 13268833 true PublicationIdentifier 405312 /api/publicationidentifier/405312 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true false IDENTICAL 10.1046/j.1365-2133.2002.04594.x 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;&nbsp;&nbsp;&nbsp; <span class="author-name" >Garzuly F </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Csanaky G </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Luiten P G M </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10010173"><a href="/gui2/?type=authors&mode=browse&sel=10010173" target="_blank">Nyakas C (<span class="authorship-author-name">Nyakas Csaba</span> <span class="authorAux-mtmt"> Molekuláris neurobiológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Linke R P </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Virágh S </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;1661664" target="_blank">Cutaneous lymphatic amyloid deposits in 'Hungarian-type' familial transthyretin amyloidosis: a case report</a></div> <div> <span class="journal-title">BRITISH JOURNAL OF DERMATOLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0007-0963">0007-0963</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1365-2133">1365-2133</a>)</span>: <span class="journal-volume">146</span> <span class="journal-issue">4</span> <span class="page"> pp 674-679 </span> <span class="year">(2002)</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_none" title="none"> <a style="color:blue" title="10.1046/j.1365-2133.2002.04594.x" target="_blank" href="https://doi.org/10.1046/j.1365-2133.2002.04594.x"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000176020300022" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000176020300022"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="0036235893" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-0036235893"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="11966704" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11966704&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Dermatology&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> <div class="journal-subject">Journal subject: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 9</span> | Independent citation: 8 | Self citation: 1 | Unknown citation: 0 | Number of citations in WoS: 8 | Number of citations in Scopus:&nbsp;7 | WoS/Scopus assigned:&nbsp;9 | Number of citations with DOI:&nbsp;8 </div> <div 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Department of Pediatrics</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;19068" target="_blank">Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family</a></div> <div> <span class="journal-title">AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1350-6129">1350-6129</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1744-2818">1744-2818</a>)</span>: <span class="journal-volume">5</span> <span class="journal-issue">1</span> <span class="page"> pp 30-34 </span> <span class="year">(1998)</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_none" title="none"> <a style="color:black" title="10.3109/13506129809007287" target="_blank" href="https://doi.org/10.3109/13506129809007287"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000072518800005" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000072518800005"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="0032013091" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-0032013091"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="9547003" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9547003&dopt=Abstract"> PubMed </a> </span> </span> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 13</span> | Independent citation: 10 | Self citation: 3 | Unknown citation: 0 | Number of citations in WoS: 9 | Number of citations in Scopus:&nbsp;12 | WoS/Scopus assigned:&nbsp;13 | Number of citations with DOI:&nbsp;11 </div> <div class="mtid"><span class="long-pub-mtid">Publication: 19068</span> | <span class="status-data status-VALIDATED"> Validated </span> <span class="oldId">Old id: 19068</span> | Core | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">MEDLINE</span> </div> <div class="notDuplums"><a target="_blank" href="/api/publication/19068/notduplums">1 marked as not duplum</a> </div> <div class="lastModified">Last Modified: 2017.02.22. 10:02 András Balázs (MTMT Központ, admin) </div> </div></div>