{"id":"https://openalex.org/W2147305697","doi":"https://doi.org/10.1001/archneur.62.7.1057","title":"Transthyretin-Related Familial Amyloidotic Polyneuropathy","display_name":"Transthyretin-Related Familial Amyloidotic Polyneuropathy","publication_year":2005,"publication_date":"2005-07-01","ids":{"openalex":"https://openalex.org/W2147305697","doi":"https://doi.org/10.1001/archneur.62.7.1057","mag":"2147305697","pmid":"https://pubmed.ncbi.nlm.nih.gov/16009758"},"language":"en","primary_location":{"id":"doi:10.1001/archneur.62.7.1057","doi":"https://doi.org/10.1001/archneur.62.7.1057","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.62.7.1057","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2147305697"],"child_works_count":0,"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":null,"display_name":"Yukio Ando","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yukio Ando","raw_affiliation_strings":["Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. yukio@kaiju.medic.kumamoto-u.ac.jp"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. yukio@kaiju.medic.kumamoto-u.ac.jp","institution_ids":["https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067592212","display_name":"\u4e2d\u6751\u653f\u660e","orcid":"https://orcid.org/0000-0002-4650-0460","observed_orcids":["https://orcid.org/0000-0002-4650-0460"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Masaaki Nakamura","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5111609790","display_name":"Shukuro Araki","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shukuro Araki","raw_affiliation_strings":["Ohmuta Tenryo Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ohmuta Tenryo Hospital","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":16.2041,"has_fulltext":false,"cited_by_count":421,"citation_normalized_percentile":{"value":0.99130057,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"62","issue":"7","first_page":"1057","last_page":"1057"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11305","display_name":"Amyloidosis: Diagnosis, Treatment, Outcomes","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2724","display_name":"Internal Medicine"},"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/T11305","display_name":"Amyloidosis: Diagnosis, Treatment, Outcomes","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2724","display_name":"Internal Medicine"},"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/transthyretin-mutations","display_name":"transthyretin mutations","score":0.878000020980835},{"id":"https://openalex.org/keywords/hereditary-amyloidosis","display_name":"hereditary amyloidosis","score":0.9190000295639038},{"id":"https://openalex.org/keywords/clinicopathological-features","display_name":"clinicopathological features","score":0.8600000143051147},{"id":"https://openalex.org/keywords/biochemical-properties","display_name":"biochemical properties","score":0.5860000252723694},{"id":"https://openalex.org/keywords/molecular-genetic-analysis","display_name":"molecular genetic analysis","score":0.7590000033378601},{"id":"https://openalex.org/keywords/diagnostic-procedures","display_name":"diagnostic procedures","score":0.5360000133514404}],"concepts":[{"id":"https://openalex.org/C121157162","wikidata":"https://www.wikidata.org/wiki/Q419999","display_name":"Transthyretin","level":2,"score":0.9793313145637512},{"id":"https://openalex.org/C2775892965","wikidata":"https://www.wikidata.org/wiki/Q1502312","display_name":"Polyneuropathy","level":2,"score":0.8644740581512451},{"id":"https://openalex.org/C2779951007","wikidata":"https://www.wikidata.org/wiki/Q816798","display_name":"Amyloidosis","level":2,"score":0.7377104759216309},{"id":"https://openalex.org/C2910844529","wikidata":"https://www.wikidata.org/wiki/Q3338677","display_name":"Amyloid polyneuropathy","level":4,"score":0.5743303894996643},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5418404340744019},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5042587518692017},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5032662749290466},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4922598898410797},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.44925743341445923},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3507501184940338},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2584550082683563},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.24837923049926758},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.14013215899467468}],"mesh":[{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011228","descriptor_name":"Prealbumin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016031","descriptor_name":"Liver Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D028227","descriptor_name":"Amyloid Neuropathies, Familial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D028227","descriptor_name":"Amyloid Neuropathies, Familial","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D028227","descriptor_name":"Amyloid Neuropathies, Familial","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1001/archneur.62.7.1057","doi":"https://doi.org/10.1001/archneur.62.7.1057","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.62.7.1057","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},{"id":"pmid:16009758","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16009758","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":"Archives of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W171186079","https://openalex.org/W333201141","https://openalex.org/W1240371042","https://openalex.org/W1508104321","https://openalex.org/W1555692677","https://openalex.org/W1966561921","https://openalex.org/W1967944707","https://openalex.org/W1970157807","https://openalex.org/W1988451517","https://openalex.org/W1992679111","https://openalex.org/W1995423069","https://openalex.org/W2000639672","https://openalex.org/W2002381920","https://openalex.org/W2013703514","https://openalex.org/W2014602287","https://openalex.org/W2037268137","https://openalex.org/W2042488860","https://openalex.org/W2042975557","https://openalex.org/W2058749079","https://openalex.org/W2061637583","https://openalex.org/W2068641769","https://openalex.org/W2073849534","https://openalex.org/W2083419051","https://openalex.org/W2092180837","https://openalex.org/W2093530049","https://openalex.org/W2112724119","https://openalex.org/W2116210207","https://openalex.org/W2133745249","https://openalex.org/W2144688054","https://openalex.org/W2150143080","https://openalex.org/W2153030997","https://openalex.org/W2198986897","https://openalex.org/W2416410336","https://openalex.org/W3024331443"],"related_works":["https://openalex.org/W1966327463","https://openalex.org/W2329480070","https://openalex.org/W2017703123","https://openalex.org/W2037809185","https://openalex.org/W2024275756","https://openalex.org/W2346301082","https://openalex.org/W2185376025","https://openalex.org/W2794013446","https://openalex.org/W2132205263","https://openalex.org/W2902951875"],"abstract_inverted_index":{"Transthyretin-related":[0],"familial":[1],"amyloidotic":[2],"polyneuropathy":[3],"(FAP)":[4],"is":[5,37],"a":[6,58,103],"fatal":[7],"hereditary":[8],"amyloidosis.":[9],"Until":[10],"20":[11],"years":[12],"ago,":[13],"FAP":[14,36,72],"was":[15],"thought":[16],"to":[17,20,28,40],"be":[18],"restricted":[19],"endemic":[21],"occurrence":[22],"in":[23,30,60,81],"certain":[24],"areas.":[25],"However,":[26],"owing":[27],"progress":[29],"biochemical":[31],"and":[32,67,94,100],"molecular":[33,92],"genetic":[34],"analyses,":[35],"now":[38],"believed":[39],"occur":[41],"worldwide.":[42],"As":[43],"of":[44,47,52,71,97],"today,":[45],"reports":[46],"about":[48],"100":[49],"different":[50,69],"points":[51],"single":[53],"or":[54,57],"double":[55],"mutations,":[56],"deletion":[59],"the":[61,78,82,88,108],"transthyretin":[62,83],"gene,":[63],"have":[64,73],"been":[65,74],"published,":[66],"several":[68],"phenotypes":[70],"documented,":[75],"even":[76],"for":[77,107],"same":[79],"mutation":[80],"gene.":[84],"We":[85],"present":[86],"herein":[87],"current":[89],"clinicopathological,":[90],"biochemical,":[91],"genetic,":[93],"epidemiological":[95],"aspects":[96],"transthyretin-related":[98],"FAP,":[99],"we":[101],"introduce":[102],"new":[104],"diagnostic":[105],"procedure":[106],"disease.":[109]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":14},{"year":2024,"cited_by_count":12},{"year":2023,"cited_by_count":15},{"year":2022,"cited_by_count":23},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":14},{"year":2019,"cited_by_count":33},{"year":2018,"cited_by_count":19},{"year":2017,"cited_by_count":23},{"year":2016,"cited_by_count":16},{"year":2015,"cited_by_count":15},{"year":2014,"cited_by_count":23},{"year":2013,"cited_by_count":30},{"year":2012,"cited_by_count":35}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}