{"id":"https://openalex.org/W3008019686","doi":"https://doi.org/10.1016/j.jns.2020.116757","title":"The mutation D313Y may be associated with nervous system manifestations in Fabry disease","display_name":"The mutation D313Y may be associated with nervous system manifestations in Fabry disease","publication_year":2020,"publication_date":"2020-02-22","ids":{"openalex":"https://openalex.org/W3008019686","doi":"https://doi.org/10.1016/j.jns.2020.116757","mag":"3008019686","pmid":"https://pubmed.ncbi.nlm.nih.gov/32109691"},"language":"en","primary_location":{"id":"doi:10.1016/j.jns.2020.116757","doi":"https://doi.org/10.1016/j.jns.2020.116757","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jns.2020.116757","pdf_url":null,"source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Neurological Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015115830","display_name":"Christina Zompola","orcid":"https://orcid.org/0000-0002-5246-3870","observed_orcids":["https://orcid.org/0000-0002-5246-3870"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210140282","display_name":"University General Hospital Attikon","ror":"https://ror.org/03gb7n667","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210140282"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Christina Zompola","raw_affiliation_strings":["Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210140282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037648017","display_name":"Lina Palaiodimou","orcid":"https://orcid.org/0000-0001-7757-609X","observed_orcids":["https://orcid.org/0000-0001-7757-609X"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210140282","display_name":"University General Hospital Attikon","ror":"https://ror.org/03gb7n667","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210140282"]}],"countries":["GR"],"is_corresponding":true,"raw_author_name":"Lina Palaiodimou","raw_affiliation_strings":["Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece. Electronic address: lina_palaiodimou@yahoo.gr","Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece. Electronic address: lina_palaiodimou@yahoo.gr","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210140282"]},{"raw_affiliation_string":"Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210140282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049606048","display_name":"Panagiotis Kokotis","orcid":"https://orcid.org/0000-0003-3311-0049","observed_orcids":["https://orcid.org/0000-0003-3311-0049"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210141397","display_name":"Eginition Hospital","ror":"https://ror.org/03wed5r38","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210141397"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Panagiotis Kokotis","raw_affiliation_strings":["First Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Aeginitio Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Aeginitio Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210141397"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084504886","display_name":"\u039carianna Papadopoulou","orcid":"https://orcid.org/0000-0002-0163-7455","observed_orcids":["https://orcid.org/0000-0002-0163-7455"]},"institutions":[{"id":"https://openalex.org/I4210094138","display_name":"University of West Attica","ror":"https://ror.org/00r2r5k05","country_code":"GR","type":"education","lineage":["https://openalex.org/I4210094138"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Marianna Papadopoulou","raw_affiliation_strings":["Department of Physiotherapy, University of West Attica, Athens, Greece"],"raw_orcid":"https://orcid.org/0000-0002-0163-7455","affiliations":[{"raw_affiliation_string":"Department of Physiotherapy, University of West Attica, Athens, Greece","institution_ids":["https://openalex.org/I4210094138"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023762588","display_name":"Aikaterini Theodorou","orcid":"https://orcid.org/0000-0001-7229-2610","observed_orcids":["https://orcid.org/0000-0001-7229-2610","https://orcid.org/0000-0002-5536-9900"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210140282","display_name":"University General Hospital Attikon","ror":"https://ror.org/03gb7n667","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210140282"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Aikaterini Theodorou","raw_affiliation_strings":["Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210140282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016523588","display_name":"Nikolaos Sabanis","orcid":"https://orcid.org/0000-0002-4035-9662","observed_orcids":["https://orcid.org/0000-0002-4035-9662"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nikolaos Sabanis","raw_affiliation_strings":["Nephrology Department, General Hospital of Livadia, Livadia, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nephrology Department, General Hospital of Livadia, Livadia, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061413843","display_name":"Efterpi Theodoroula","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I174878644","display_name":"University of Patras","ror":"https://ror.org/017wvtq80","country_code":"GR","type":"education","lineage":["https://openalex.org/I174878644"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Efterpi Theodoroula","raw_affiliation_strings":["Department of Neurology, School of Medicine, University of Patras, Rio-Patras, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, School of Medicine, University of Patras, Rio-Patras, Greece","institution_ids":["https://openalex.org/I174878644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113602839","display_name":"Matilda A. Papathanasiou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210140282","display_name":"University General Hospital Attikon","ror":"https://ror.org/03gb7n667","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210140282"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Matilda Papathanasiou","raw_affiliation_strings":["Second Department of Radiology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Radiology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210140282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019953858","display_name":"Georgios K. Tsivgoulis","orcid":"https://orcid.org/0000-0002-0640-3797","observed_orcids":["https://orcid.org/0000-0002-0640-3797"]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210140282","display_name":"University General Hospital Attikon","ror":"https://ror.org/03gb7n667","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210140282"]}],"countries":["GR","US"],"is_corresponding":false,"raw_author_name":"Georgios Tsivgoulis","raw_affiliation_strings":["Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece; Department of Neurology, The University of Tennessee Health Science Center, Memphis, TN, United States","Department of Neurology, The University of Tennessee Health Science Center, Memphis, TN, United States","Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece; Department of Neurology, The University of Tennessee Health Science Center, Memphis, TN, United States","institution_ids":["https://openalex.org/I160606119","https://openalex.org/I200777214"]},{"raw_affiliation_string":"Department of Neurology, The University of Tennessee Health Science Center, Memphis, TN, United States","institution_ids":["https://openalex.org/I160606119"]},{"raw_affiliation_string":"Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, \"Attikon\" University Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210140282"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5039929936","display_name":"Elisabeth Chroni","orcid":"https://orcid.org/0000-0001-9237-4963","observed_orcids":["https://orcid.org/0000-0001-9237-4963"]},"institutions":[{"id":"https://openalex.org/I174878644","display_name":"University of Patras","ror":"https://ror.org/017wvtq80","country_code":"GR","type":"education","lineage":["https://openalex.org/I174878644"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Elisabeth Chroni","raw_affiliation_strings":["Department of Neurology, School of Medicine, University of Patras, Rio-Patras, Greece"],"raw_orcid":"https://orcid.org/0000-0001-9237-4963","affiliations":[{"raw_affiliation_string":"Department of Neurology, School of Medicine, University of Patras, Rio-Patras, Greece","institution_ids":["https://openalex.org/I174878644"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5037648017"],"corresponding_institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210140282"],"apc_list":{"value":3250,"currency":"USD","value_usd":3250},"apc_paid":null,"fwci":2.0131,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.85736835,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"412","issue":null,"first_page":"116757","last_page":"116757"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/fabry-disease","display_name":"Fabry disease","score":0.9980000257492065},{"id":"https://openalex.org/keywords/alpha-galactosidase-a","display_name":"alpha-galactosidase A","score":0.796999990940094},{"id":"https://openalex.org/keywords/nervous-system-manifestations","display_name":"nervous system manifestations","score":0.7459999918937683},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"pathogenicity","score":0.6700000166893005},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.42899999022483826},{"id":"https://openalex.org/keywords/enzyme-replacement-therapy","display_name":"enzyme replacement therapy","score":0.6859999895095825},{"id":"https://openalex.org/keywords/chaperone-therapy","display_name":"chaperone therapy","score":0.9610000252723694}],"concepts":[{"id":"https://openalex.org/C2777404818","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry disease","level":3,"score":0.8558582067489624},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5733210444450378},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.49181821942329407},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4848948121070862},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33001282811164856},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31094443798065186},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2545856833457947},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000519","descriptor_name":"alpha-Galactosidase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.jns.2020.116757","doi":"https://doi.org/10.1016/j.jns.2020.116757","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jns.2020.116757","pdf_url":null,"source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Neurological Sciences","raw_type":"journal-article"},{"id":"pmid:32109691","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32109691","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":"Journal of the neurological sciences","raw_type":"Letter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":7,"referenced_works":["https://openalex.org/W1493695909","https://openalex.org/W1974774100","https://openalex.org/W2069816309","https://openalex.org/W2096596851","https://openalex.org/W2106429906","https://openalex.org/W2594214419","https://openalex.org/W2764272975"],"related_works":["https://openalex.org/W2594214419","https://openalex.org/W4380447935","https://openalex.org/W4396968155","https://openalex.org/W2106429906","https://openalex.org/W2122553878","https://openalex.org/W4205438290","https://openalex.org/W4386351381","https://openalex.org/W2789456201","https://openalex.org/W2038342488","https://openalex.org/W2764272975"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":5},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2020-03-06T00:00:00"}