{"id":"https://openalex.org/W2042376210","doi":"https://doi.org/10.4161/pri.27260","title":"Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation","display_name":"Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation","publication_year":2013,"publication_date":"2013-11-01","ids":{"openalex":"https://openalex.org/W2042376210","doi":"https://doi.org/10.4161/pri.27260","mag":"2042376210","pmid":"https://pubmed.ncbi.nlm.nih.gov/24275071","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4201619"},"language":"en","primary_location":{"id":"doi:10.4161/pri.27260","doi":"https://doi.org/10.4161/pri.27260","is_oa":false,"landing_page_url":"https://doi.org/10.4161/pri.27260","pdf_url":null,"source":{"id":"https://openalex.org/S4594078","display_name":"Prion","issn_l":"1933-6896","issn":["1933-6896","1933-690X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","medline","norway-1","oarl","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310315740","host_organization_name":"Landes Bioscience","host_organization_lineage":["https://openalex.org/P4310315740"],"host_organization_lineage_names":["Landes Bioscience"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prion","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4201619","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042625503","display_name":"Martin Paucar","orcid":"https://orcid.org/0000-0003-3735-1480","observed_orcids":["https://orcid.org/0000-0003-3735-1480"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":true,"raw_author_name":"Martin Paucar","raw_affiliation_strings":["Translational Neuropharmacology; Clinical Neuroscience; Center for Molecular Medicine; Karolinska Institute; Stockholm, Sweden; Department of Neurology; Karolinska University Hospital; Stockholm, Sweden","Center for Molecular Medicine","Clinical Neuroscience","Department of Neurology","Karolinska Institute","Karolinska University Hospital","Stockholm, Sweden","Translational Neuropharmacology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Neuropharmacology; Clinical Neuroscience; Center for Molecular Medicine; Karolinska Institute; Stockholm, Sweden; Department of Neurology; Karolinska University Hospital; Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]},{"raw_affiliation_string":"Center for Molecular Medicine","institution_ids":[]},{"raw_affiliation_string":"Clinical Neuroscience","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology","institution_ids":[]},{"raw_affiliation_string":"Karolinska Institute","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Karolinska University Hospital","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Stockholm, Sweden","institution_ids":[]},{"raw_affiliation_string":"Translational Neuropharmacology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022099559","display_name":"Fengqing Xiang","orcid":"https://orcid.org/0000-0003-0892-1536","observed_orcids":["https://orcid.org/0000-0003-0892-1536"]},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Fengqing Xiang","raw_affiliation_strings":["Department of Woman's and Children's Health; Center for Molecular Medicine; Karolinska Institute, Stockholm, Sweden","Center for Molecular Medicine","Department of Woman's and Children's Health","Karolinska Institute, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Woman's and Children's Health; Center for Molecular Medicine; Karolinska Institute, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Center for Molecular Medicine","institution_ids":[]},{"raw_affiliation_string":"Department of Woman's and Children's Health","institution_ids":[]},{"raw_affiliation_string":"Karolinska Institute, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Richard Moore","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Richard Moore","raw_affiliation_strings":["United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007116905","display_name":"Ruth Helen Walker","orcid":"https://orcid.org/0000-0002-8366-072X","observed_orcids":["https://orcid.org/0000-0002-8366-072X"]},"institutions":[{"id":"https://openalex.org/I4210116369","display_name":"James J. Peters VA Medical Center","ror":"https://ror.org/02c8hpe74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210094901","https://openalex.org/I4210116369"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ruth H Walker","raw_affiliation_strings":["James Peters Veterans Medical Affair Center; Bronx, NY USA; Mount Sinai School of Medicine; New York, NY USA","Bronx, NY USA","James Peters Veterans Medical Affair Center","Mount Sinai School of Medicine","New York, NY USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"James Peters Veterans Medical Affair Center; Bronx, NY USA; Mount Sinai School of Medicine; New York, NY USA","institution_ids":["https://openalex.org/I4210116369","https://openalex.org/I98704320"]},{"raw_affiliation_string":"Bronx, NY USA","institution_ids":[]},{"raw_affiliation_string":"James Peters Veterans Medical Affair Center","institution_ids":["https://openalex.org/I4210116369"]},{"raw_affiliation_string":"Mount Sinai School of Medicine","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"New York, NY USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027629937","display_name":"Elisabeth Winnberg","orcid":"https://orcid.org/0000-0002-1438-0986","observed_orcids":["https://orcid.org/0000-0002-1438-0986","https://orcid.org/0009-0003-4592-8822"]},"institutions":[{"id":"https://openalex.org/I75511499","display_name":"Marie Cederschi\u00f6ld University","ror":"https://ror.org/00ajvsd91","country_code":"SE","type":"education","lineage":["https://openalex.org/I75511499"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Elisabeth Winnberg","raw_affiliation_strings":["Department of Caring Sciences; Ersta Sk\u00f6ndal University College; Stockholm, Sweden","Department of Caring Sciences","Ersta Sk\u00f6ndal University College","Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Caring Sciences; Ersta Sk\u00f6ndal University College; Stockholm, Sweden","institution_ids":["https://openalex.org/I75511499"]},{"raw_affiliation_string":"Department of Caring Sciences","institution_ids":[]},{"raw_affiliation_string":"Ersta Sk\u00f6ndal University College","institution_ids":["https://openalex.org/I75511499"]},{"raw_affiliation_string":"Stockholm, Sweden","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5036364090","display_name":"Per Svenningsson","orcid":"https://orcid.org/0000-0001-6727-3802","observed_orcids":["https://orcid.org/0000-0001-6727-3802"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Per Svenningsson","raw_affiliation_strings":["Translational Neuropharmacology; Clinical Neuroscience; Center for Molecular Medicine; Karolinska Institute; Stockholm, Sweden; Department of Neurology; Karolinska University Hospital; Stockholm, Sweden","Center for Molecular Medicine","Clinical Neuroscience","Department of Neurology","Karolinska Institute","Karolinska University Hospital","Stockholm, Sweden","Translational Neuropharmacology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Neuropharmacology; Clinical Neuroscience; Center for Molecular Medicine; Karolinska Institute; Stockholm, Sweden; Department of Neurology; Karolinska University Hospital; Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]},{"raw_affiliation_string":"Center for Molecular Medicine","institution_ids":[]},{"raw_affiliation_string":"Clinical Neuroscience","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology","institution_ids":[]},{"raw_affiliation_string":"Karolinska Institute","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Karolinska University Hospital","institution_ids":["https://openalex.org/I1335113835"]},{"raw_affiliation_string":"Stockholm, Sweden","institution_ids":[]},{"raw_affiliation_string":"Translational Neuropharmacology","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5042625503"],"corresponding_institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"],"apc_list":{"value":1625,"currency":"GBP","value_usd":1993},"apc_paid":null,"fwci":0.5022,"has_fulltext":false,"cited_by_count":22,"citation_normalized_percentile":{"value":0.61139114,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"7","issue":"6","first_page":"501","last_page":"510"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11335","display_name":"Prion Diseases and Protein Misfolding","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T11335","display_name":"Prion Diseases and Protein Misfolding","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10949","display_name":"Genetic Neurodegenerative Diseases","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/T11305","display_name":"Amyloidosis: Diagnosis, Treatment, Outcomes","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/genetic-prion-disease","display_name":"familial prion disease","score":0.9729999899864197},{"id":"https://openalex.org/keywords/prnp","display_name":"prion protein gene","score":0.7080000042915344},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9139999747276306},{"id":"https://openalex.org/keywords/codon-129-polymorphism","display_name":"codon 129 polymorphism","score":0.8379999995231628},{"id":"https://openalex.org/keywords/chorea","display_name":"chorea","score":0.5320000052452087},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.8640000224113464},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.9369999766349792},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.8429999947547913},{"id":"https://openalex.org/keywords/prion-protein","display_name":"prion protein","score":0.703000009059906}],"concepts":[{"id":"https://openalex.org/C2778147599","wikidata":"https://www.wikidata.org/wiki/Q14881255","display_name":"PRNP","level":4,"score":0.9190131425857544},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6527780890464783},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6384562849998474},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6344685554504395},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.6163537502288818},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5769709944725037},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5301576256752014},{"id":"https://openalex.org/C2778868616","wikidata":"https://www.wikidata.org/wiki/Q1076421","display_name":"Chorea","level":3,"score":0.5268572568893433},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4883801341056824},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3379981815814972},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.24579733610153198},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.23564547300338745}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011328","descriptor_name":"Prions","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016019","descriptor_name":"Survival Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016254","descriptor_name":"Mutagenesis, Insertional","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017096","descriptor_name":"Prion Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.4161/pri.27260","doi":"https://doi.org/10.4161/pri.27260","is_oa":false,"landing_page_url":"https://doi.org/10.4161/pri.27260","pdf_url":null,"source":{"id":"https://openalex.org/S4594078","display_name":"Prion","issn_l":"1933-6896","issn":["1933-6896","1933-690X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","medline","norway-1","oarl","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310315740","host_organization_name":"Landes Bioscience","host_organization_lineage":["https://openalex.org/P4310315740"],"host_organization_lineage_names":["Landes Bioscience"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prion","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3399087","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4201619","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4201619","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4201619","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prion","raw_type":"Text"},{"id":"pmid:24275071","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24275071","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":"Prion","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:3399087","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4201619","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320337393","display_name":"Division of Chemistry","ror":"https://ror.org/01ar8dr59"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W89437965","https://openalex.org/W911099558","https://openalex.org/W1563777667","https://openalex.org/W1596394114","https://openalex.org/W1967307318","https://openalex.org/W1972615531","https://openalex.org/W1972797664","https://openalex.org/W1979313084","https://openalex.org/W2012186732","https://openalex.org/W2015440966","https://openalex.org/W2019066837","https://openalex.org/W2021505439","https://openalex.org/W2025546736","https://openalex.org/W2039916459","https://openalex.org/W2044241406","https://openalex.org/W2053263337","https://openalex.org/W2069064263","https://openalex.org/W2084968424","https://openalex.org/W2105391259","https://openalex.org/W2110807036","https://openalex.org/W2112140556","https://openalex.org/W2114433936","https://openalex.org/W2117016125","https://openalex.org/W2117410634","https://openalex.org/W2118869273","https://openalex.org/W2119837637","https://openalex.org/W2124867844","https://openalex.org/W2126260674","https://openalex.org/W2140657325","https://openalex.org/W2151703885","https://openalex.org/W2152377349","https://openalex.org/W2161717605","https://openalex.org/W2263095490","https://openalex.org/W2302796219","https://openalex.org/W2405220646","https://openalex.org/W2409488706","https://openalex.org/W4246061732"],"related_works":["https://openalex.org/W4386578745","https://openalex.org/W2118869273","https://openalex.org/W2048015284","https://openalex.org/W2945756846","https://openalex.org/W2587782902","https://openalex.org/W2101615654","https://openalex.org/W2115786611","https://openalex.org/W7000625755","https://openalex.org/W2114433936","https://openalex.org/W2154027377"],"abstract_inverted_index":{"A":[0],"minority":[1],"of":[2,36,46,63,87,89,104,121,123,130,135,151,158,168,178,183,190,194,202,215],"inherited":[3],"prion":[4,20],"diseases":[5],"(IPD)":[6],"are":[7],"caused":[8],"by":[9,28,198],"four":[10,25,45,97],"to":[11,56,188],"12":[12],"extra":[13],"octapeptide":[14],"repeat":[15],"insertions":[16],"(OPRI)":[17],"in":[18,43,143,192],"the":[19,61,79,84,96,102,114,118,124,144,199],"protein":[21],"gene":[22],"(PRNP).":[23],"Only":[24],"families":[26,99,126],"affected":[27,48,91],"IPD":[29],"with":[30,93,127,138],"8-OPRI":[31,81,98,125],"have":[32],"been":[33],"reported,":[34],"one":[35,88],"them":[37],"was":[38,53,67,196,220],"a":[39,128,174],"three-generation":[40],"Swedish":[41,80,115],"kindred":[42,116],"which":[44,52],"seven":[47],"subjects":[49],"had":[50,147,165,173],"chorea":[51],"initially":[54],"attributed":[55],"Huntington's":[57],"disease":[58],"(HD).":[59],"Following":[60],"exclusion":[62],"HD,":[64],"this":[65,223],"phenotype":[66],"labeled":[68],"Huntington":[69],"disease-like":[70],"1":[71],"(HDL1).":[72],"Here,":[73],"we":[74],"provide":[75],"an":[76],"update":[77],"on":[78,111],"family,":[82],"describe":[83],"clinical":[85],"features":[86],"its":[90],"members":[92],"video-recordings,":[94],"compare":[95],"and":[100,109,155,180,207,217],"study":[101],"effect":[103,201],"PRNP":[105,139,203],"polymorphic":[106,140,204],"codon":[107,141,205],"129":[108,206],"gender":[110],"phenotype.":[112],"Surprisingly,":[113],"displayed":[117],"longest":[119],"survival":[120,154,219],"all":[122],"mean":[129],"15.1":[131],"years":[132],"from":[133],"onset":[134,169,179,195,216],"symptoms.":[136],"Subjects":[137],"129M":[142],"mutated":[145],"allele":[146],"significantly":[148,175],"earlier":[149,156,166,176,181],"age":[150,157,167,177,182,193,214],"onset,":[152],"longer":[153],"death":[159,184],"than":[160,170,185],"129V":[161],"subjects.":[162],"Homozygous":[163],"129MM":[164],"129VV.":[171],"Females":[172],"males.":[186],"Up":[187],"50%":[189],"variability":[191],"conferred":[197],"combined":[200],"gender.":[208],"An":[209],"inverse":[210],"correlation":[211],"between":[212],"early":[213],"long":[218],"found":[221],"for":[222],"mutation.":[224]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}