{"id":"https://openalex.org/W3139313289","doi":"https://doi.org/10.1186/s13023-020-01641-z","title":"Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases","display_name":"Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases","publication_year":2021,"publication_date":"2021-03-18","ids":{"openalex":"https://openalex.org/W3139313289","doi":"https://doi.org/10.1186/s13023-020-01641-z","mag":"3139313289","pmid":"https://pubmed.ncbi.nlm.nih.gov/33736655","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7976714"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-020-01641-z","doi":"https://doi.org/10.1186/s13023-020-01641-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-020-01641-z","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-020-01641-z","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-020-01641-z","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067380970","display_name":"Annemarie E.M. Post","orcid":"https://orcid.org/0000-0002-4206-0998","observed_orcids":["https://orcid.org/0000-0002-4206-0998"]},"institutions":[{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Annemarie E. M. Post","raw_affiliation_strings":["Institute for Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037328125","display_name":"Thomas Klockgether","orcid":"https://orcid.org/0000-0001-6174-5442","observed_orcids":["https://orcid.org/0000-0001-6174-5442"]},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]},{"id":"https://openalex.org/I2801533059","display_name":"German Center for Neurodegenerative Diseases","ror":"https://ror.org/043j0f473","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I2801533059","https://openalex.org/I4405256427"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Thomas Klockgether","raw_affiliation_strings":["Department of Neurology, University of Bonn, Bonn, Germany","German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Bonn, Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]},{"raw_affiliation_string":"German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany","institution_ids":["https://openalex.org/I2801533059"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069370057","display_name":"G. Bernhard Landwehrmeyer","orcid":"https://orcid.org/0000-0003-3375-790X","observed_orcids":["https://orcid.org/0000-0003-3375-790X"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"G. Bernhard Landwehrmeyer","raw_affiliation_strings":["Department of Neurology, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080418392","display_name":"Massimo Pandolfo","orcid":"https://orcid.org/0000-0001-5230-5787","observed_orcids":["https://orcid.org/0000-0001-5230-5787"]},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I2802054198","display_name":"Erasmus Hospital","ror":"https://ror.org/05j1gs298","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2802054198"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Massimo Pandolfo","raw_affiliation_strings":["Service of Neurology, Erasme Hospital, and Laboratory of Experimental Neurology, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service of Neurology, Erasme Hospital, and Laboratory of Experimental Neurology, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I2802054198"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086443885","display_name":"Astri Arnesen","orcid":"https://orcid.org/0000-0003-0148-592X","observed_orcids":["https://orcid.org/0000-0003-0148-592X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Astri Arnesen","raw_affiliation_strings":["European Huntington Association (President), S\u00f8gne, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"European Huntington Association (President), S\u00f8gne, Norway","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047256223","display_name":"Carola Reinhard","orcid":"https://orcid.org/0009-0008-4034-0073","observed_orcids":["https://orcid.org/0009-0008-4034-0073"]},"institutions":[{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Carola Reinhard","raw_affiliation_strings":["Institute for Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079780434","display_name":"Holm Grae\u00dfner","orcid":"https://orcid.org/0000-0001-9803-7183","observed_orcids":["https://orcid.org/0000-0001-9803-7183"]},"institutions":[{"id":"https://openalex.org/I4210094118","display_name":"Universit\u00e4tsklinikum T\u00fcbingen","ror":"https://ror.org/00pjgxh97","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094118"]},{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Holm Graessner","raw_affiliation_strings":["Centre for Rare Diseases, University Hospital T\u00fcbingen, T\u00fcbingen, Germany. holm.graessner@med.uni-tuebingen.de","Institute for Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany. holm.graessner@med.uni-tuebingen.de","Centre for Rare Diseases, University Hospital T\u00fcbingen, T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Rare Diseases, University Hospital T\u00fcbingen, T\u00fcbingen, Germany. holm.graessner@med.uni-tuebingen.de","institution_ids":["https://openalex.org/I4210094118"]},{"raw_affiliation_string":"Institute for Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany. holm.graessner@med.uni-tuebingen.de","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Centre for Rare Diseases, University Hospital T\u00fcbingen, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I4210094118"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5079780434"],"corresponding_institution_ids":["https://openalex.org/I4210094118","https://openalex.org/I8087733"],"apc_list":{"value":2680,"currency":"USD","value_usd":2680},"apc_paid":{"value":2002,"currency":"EUR","value_usd":2159},"fwci":2.9374,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.90144668,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"16","issue":"1","first_page":"135","last_page":"135"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11639","display_name":"Mental Health and Patient Involvement","score":0.986299991607666,"subfield":{"id":"https://openalex.org/subfields/3600","display_name":"General Health Professions"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11639","display_name":"Mental Health and Patient Involvement","score":0.986299991607666,"subfield":{"id":"https://openalex.org/subfields/3600","display_name":"General Health Professions"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10582","display_name":"Ethics in Clinical Research","score":0.0035000001080334187,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rare-neurological-diseases","display_name":"rare neurological diseases","score":0.8989999890327454},{"id":"https://openalex.org/keywords/research-priorities","display_name":"research priorities","score":0.9549999833106995},{"id":"https://openalex.org/keywords/patient-representatives","display_name":"patient representatives","score":0.8330000042915344},{"id":"https://openalex.org/keywords/healthcare-workers","display_name":"healthcare workers","score":0.984000027179718},{"id":"https://openalex.org/keywords/patient-involvement-in-research","display_name":"patient involvement in research","score":0.7870000004768372},{"id":"https://openalex.org/keywords/stakeholder-differences","display_name":"stakeholder differences","score":0.5450000166893005},{"id":"https://openalex.org/keywords/disease-mechanisms","display_name":"disease mechanisms","score":0.6610000133514404},{"id":"https://openalex.org/keywords/treatment-development","display_name":"treatment development","score":0.6159999966621399},{"id":"https://openalex.org/keywords/prevention","display_name":"prevention","score":0.5199999809265137},{"id":"https://openalex.org/keywords/disease-burden","display_name":"disease burden","score":0.671999990940094}],"concepts":[{"id":"https://openalex.org/C3019806175","wikidata":"https://www.wikidata.org/wiki/Q11974939","display_name":"Health professionals","level":3,"score":0.6795004606246948},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.666655957698822},{"id":"https://openalex.org/C33566652","wikidata":"https://www.wikidata.org/wiki/Q1065927","display_name":"Theme (computing)","level":2,"score":0.6014387607574463},{"id":"https://openalex.org/C190248442","wikidata":"https://www.wikidata.org/wiki/Q839486","display_name":"Qualitative research","level":2,"score":0.5536002516746521},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5201569199562073},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.48167598247528076},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.44324666261672974},{"id":"https://openalex.org/C2778755073","wikidata":"https://www.wikidata.org/wiki/Q10858537","display_name":"Scale (ratio)","level":2,"score":0.4424896836280823},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.37096506357192993},{"id":"https://openalex.org/C39549134","wikidata":"https://www.wikidata.org/wiki/Q133080","display_name":"Public relations","level":1,"score":0.36050862073898315},{"id":"https://openalex.org/C159110408","wikidata":"https://www.wikidata.org/wiki/Q121176","display_name":"Nursing","level":1,"score":0.3252546787261963},{"id":"https://openalex.org/C509550671","wikidata":"https://www.wikidata.org/wiki/Q126945","display_name":"Medical education","level":1,"score":0.32107779383659363},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.19818809628486633},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1205613911151886},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.10159283876419067},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0},{"id":"https://openalex.org/C36289849","wikidata":"https://www.wikidata.org/wiki/Q34749","display_name":"Social science","level":1,"score":0.0},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C62520636","wikidata":"https://www.wikidata.org/wiki/Q944","display_name":"Quantum mechanics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D006282","descriptor_name":"Health Personnel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010344","descriptor_name":"Patient Advocacy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010358","descriptor_name":"Patient Participation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D036301","descriptor_name":"Qualitative Research","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1186/s13023-020-01641-z","doi":"https://doi.org/10.1186/s13023-020-01641-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-020-01641-z","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-020-01641-z","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-93958/v1","doi":"https://doi.org/10.21203/rs.3.rs-93958/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-93958/v1","pdf_url":"https://www.researchsquare.com/article/rs-93958/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:7976714","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7976714","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet J Rare Dis","raw_type":"Text"},{"id":"pmid:33736655","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33736655","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet journal of rare diseases","raw_type":"Journal Article"},{"id":"pmh:oai:pub.dzne.de:155609","doi":null,"is_oa":true,"landing_page_url":"https://pub.dzne.de/record/155609","pdf_url":null,"source":{"id":"https://openalex.org/S7407051172","display_name":"DZNE Pub","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801533059","host_organization_name":"German Center for Neurodegenerative Diseases","host_organization_lineage":["https://openalex.org/I2801533059"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet journal of rare diseases 16(1), 135 (2021). doi:10.1186/s13023-020-01641-z","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:dipot.ulb.ac.be:2013/321200","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/321200","pdf_url":null,"source":{"id":"https://openalex.org/S4306401063","display_name":"D\u00e9p\u00f4t institutionnel de l'Universit\u00e9 libre de Bruxelles (Universit\u00e9 Libre de Bruxelles)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I132053463","host_organization_name":"Universit\u00e9 Libre de Bruxelles","host_organization_lineage":["https://openalex.org/I132053463"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet journal of rare diseases, 16 (1","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:dae7d5d2778a4d64b1b57ea2c1406851","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/dae7d5d2778a4d64b1b57ea2c1406851","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s13023-020-01641-z","doi":"https://doi.org/10.1186/s13023-020-01641-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-020-01641-z","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-020-01641-z","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G3594702771","display_name":null,"funder_award_id":"739510","funder_id":"https://openalex.org/F4320337764","funder_display_name":"Third Health Programme"}],"funders":[{"id":"https://openalex.org/F4320337764","display_name":"Third Health Programme","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3139313289.pdf","grobid_xml":"https://content.openalex.org/works/W3139313289.grobid-xml"},"referenced_works_count":7,"referenced_works":["https://openalex.org/W1967648214","https://openalex.org/W1982430029","https://openalex.org/W2045300217","https://openalex.org/W2055243789","https://openalex.org/W2342089554","https://openalex.org/W2744672018","https://openalex.org/W2994844251"],"related_works":["https://openalex.org/W6976726483","https://openalex.org/W6939637418","https://openalex.org/W4388941267","https://openalex.org/W3041253928","https://openalex.org/W7124567094","https://openalex.org/W3128102001","https://openalex.org/W4285796450","https://openalex.org/W4409333082","https://openalex.org/W2143698896","https://openalex.org/W4401758705"],"abstract_inverted_index":{"BACKGROUND:":[0],"Patient":[1,155],"involvement":[2],"in":[3,15,87,236,244,263],"research":[4,9,25,36,52,135,217,237,245],"increases":[5],"the":[6,11,124,132,164,177,186],"impact":[7],"of":[8,13,123,163,188,241],"and":[10,44,79,103,114,129,153,160,179,201,210,258],"likelihood":[12],"adoption":[14],"clinical":[16],"practice.":[17],"A":[18,70,222],"first":[19],"step":[20],"is":[21,183,202],"to":[22,38,49,66,81,167,184,198,251,255],"know":[23],"which":[24,216],"themes":[26,53],"are":[27,172],"important":[28,134],"for":[29,54,85,204],"patients.":[30],"We":[31],"distributed":[32],"a":[33,59],"survey":[34],"on":[35,58,215],"priorities":[37],"ERN-RND":[39,111],"members,":[40],"both":[41],"patient":[42,77,106,139,261],"representatives":[43,78,140,156],"healthcare":[45],"professionals,":[46,147],"asking":[47],"them":[48],"prioritize":[50],"five":[51],"rare":[55],"neurological":[56],"diseases":[57],"scale":[60],"ranging":[61],"from":[62,101,105,116],"1":[63],"(most":[64],"important)":[65],"5":[67],"(least":[68],"important).":[69],"follow-up":[71,224],"e-mail":[72],"interview":[73],"was":[74],"conducted":[75],"with":[76],"professionals":[80,102,149,211],"assess":[82],"potential":[83],"reasons":[84],"differences":[86,243,250],"opinions":[88,214],"between":[89],"these":[90,249],"two":[91],"groups.":[92],"RESULTS:":[93],"In":[94,137],"total,":[95],"156":[96],"responses":[97],"were":[98,162],"analysed:":[99],"61":[100],"95":[104],"representatives.":[107],"They":[108],"covered":[109],"all":[110],"disease":[112,178,194],"groups":[113],"came":[115],"20":[117],"different":[118,213],"EU":[119],"countries.":[120],"Almost":[121],"half":[122],"respondents":[125],"considered":[126],"'Developing":[127],"therapies":[128,159],"preventive":[130],"strategies'":[131],"most":[133],"theme.":[136],"particular,":[138],"prioritized":[141,150],"this":[142],"theme":[143,218,246],"more":[144,199,256],"often":[145,173],"than":[146],"while":[148],"'Disease":[151],"mechanisms":[152,195],"models'.":[154],"indicated":[157,191],"that":[158,192,226],"prevention":[161],"utmost":[165],"importance":[166],"them,":[168],"because":[169],"their":[170,180,242],"lives":[171],"heavily":[174],"impacted":[175],"by":[176],"main":[181],"goal":[182],"relief":[185],"burden":[187],"disease.":[189],"Professionals":[190],"investigating":[193],"will":[196],"lead":[197],"knowledge":[200],"indispensable":[203],"finding":[205],"new":[206],"treatments.":[207],"CONCLUSIONS:":[208],"Patients":[209],"have":[212,220],"should":[219,238],"priority.":[221,247],"qualitative":[223],"shows":[225],"they":[227],"respect":[228],"each":[229,252],"others'":[230],"view":[231],"points.":[232],"Different":[233],"stakeholders":[234],"involved":[235],"be":[239],"aware":[240],"Explaining":[248],"other":[253],"leads":[254],"understanding,":[257],"could":[259],"improve":[260],"engagement":[262],"research.":[264]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":7}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-03-29T00:00:00"}