https://m2.mtmt.hu/ hun 2026-09-22 16:46 JournalArticle 31810068 VALIDATED true Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany Assistance Publique-Hôpitaux de Paris, National Reference Center for Huntington's Disease, Neurology Department, Henri Mondor-Albert Chenevier Hospital, Créteil, France Département d'Etudes Cognitives, École normale supérieure, PSL University, Paris, France Inserm U955, Institut Mondor de Recherche Biomédicale, Equipe E01 NeuroPsychologie Interventionnelle, Créteil, France Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany Centre for Rare Diseases, University of Lübeck, Lübeck, Germany Unit of Neuromuscular and Neurodegenerative Disorders and Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, Instituto de Ricovero e Cura a Carattere Scientifico, Rome, Italy Department of Rehabilitation Medicine, Amsterdam Movement Sciences and Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, Netherlands Department of Medicine, Medical School, University of Siena, Neurology, and Neurosciences, Siena, Italy Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany German Center for Neurodegenerative Diseases, Tübingen, Germany Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany Department of Neurology, University Hospital Bonn, Bonn, Germany University of Ulm, Department of Neurology, Ulm, Germany Sorbonne Universités, Paris Brain Institute – Institut du Cerveau – ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France Reference Centre for Rare or Early Dementias, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, IM2A, Paris, France Pediatric Neurology Department, Vall d'Hebron Research Institute and Neuroscience Institute, Autonomous University Barcelona, Barcelona, Spain Unit of Medical Genetics and Neurogenetics, Fondazione Instituto de Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta, Milan, Italy CRMR AMS, Service de Neurologie des Maladies Neurodégénératives, CHU Bordeaux, France and Univ. Bordeaux, CNRS, UMR 5293, IMN, Bordeaux, France Department of Medicine, University of Otago, New Zealand Brain Research Institute, Christchurch, New Zealand Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary Department of Rehabilitation, Centre of Expertise for Parkinson and Movement Disorders, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, Netherlands Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), Barcelona, Spain Department of Pediatric Neurology, Hospital Vall d'Hebrón, Pediatric Neurology Research Group at Vall d'Hebrón Research Institute, Universitat Autonoma de Barcelona, Barcelona, Spain EuroHSP, Plateforme Maladies Rares, Paris, France Department of Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany Department of Neurodegenerative Diseases, Center of Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, Groningen, Netherlands Neurology Service, University Hospitals Leuven, Leuven, Belgium Laboratory for Cognitive Neurology, Department of Neurosciences, Katholieke Universiteit Leuven, Leuven, Belgium Division of Psychology and Language Sciences, University College London, London, United Kingdom Department of Therapy Services, University College London Hospitals National Health System Foundation Trust National Hospital for Neurology and Neurosurgery, London, United Kingdom Department of Child Neurology, Amsterdam Leukodystrophy Centre, Emma Children's Hospital, Amsterdam University Medical Centres, Vrije Universiteit, and Amsterdam Neuroscience, Amsterdam, Netherlands Cited By :13 Export Date: 30 September 2022 Correspondence Address: Graessner, H.; Institute for Medical Genetics and Applied Genomics, Germany; email: holm.graessner@med.uni-tuebingen.de Correspondence Address: Graessner, H.; Centre for Rare Diseases, Germany; email: holm.graessner@med.uni-tuebingen.de 0 false 2026-09-02T07:00:56.697+0000 2022-06-07T13:33:07.746+0000 2021-01-14T07:06:10.381+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2022-09-30T10:23:04.631+0000 2021-11-04T13:36:11.407+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 1134514 Survey paper true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/1134514 Összefoglaló cikk SubType 102 true 1134514 true 1 /api/category/1 Category true 1 Reinhard, Carola The European Reference Network for Rare Neurological Diseases true true /api/journal/10020902 REVIEWED true false 10020902 false 10020902 true 1664-2295 1664-2295 Journal FOREIGN 11 616569 616569 7 2021 While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have “the knowledge travel instead of the patient,” which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public. 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Bernhard </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Leber Isabelle </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Macaya Alfons </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Mariotti Caterina </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Meissner Wassilios G. </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" >Nonnekes Jorik </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Ortigoza Escobar Juan Dario </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Pérez Dueñas Belen </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Renna Linton Lori </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Schöls Ludger </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Schuele Rebecca </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Tijssen Marina A. J. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Vandenberghe Rik </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Volkmer Anna </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Wolf Nicole I. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Graessner Holm ✉ </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;31810068" target="_blank">The European Reference Network for Rare Neurological Diseases</a></div> <div> <span class="journal-title">FRONTIERS IN NEUROLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1664-2295">1664-2295</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1664-2295">1664-2295</a>)</span>: <span class="journal-volume">11</span> <span class="page"> Paper 616569. 7 p. </span> <span class="year">(2021)</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_GOLD" title=" Gold "> <a style="color:blue" title="10.3389/fneur.2020.616569" target="_blank" href="https://doi.org/10.3389/fneur.2020.616569"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000612341500001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000612341500001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85100036498" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85100036498"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="33519696" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=33519696&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;Q2</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: 52</span> | Független: 34 | Függő: 18 | Nem jelölt: 0 | WoS jelölt: 48 | Scopus jelölt:&nbsp;46 | WoS/Scopus jelölt:&nbsp;52 | DOI jelölt:&nbsp;51 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31810068&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 31810068</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Összefoglaló cikk ) </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: 2022.06.07. 15:33 Berhidi Anna (SE_KK_Admin5_BA, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany Assistance Publique-Hôpitaux de Paris, National Reference Center for Huntington's Disease, Neurology Department, Henri Mondor-Albert Chenevier Hospital, Créteil, France ...</pre> </div></div>