{"id":"https://openalex.org/W2123445992","doi":"https://doi.org/10.1001/archneur.60.8.1097","title":"Prevalence of Dentatorubral-Pallidoluysian Atrophy in a Large Series of White Patients With Cerebellar Ataxia","display_name":"Prevalence of Dentatorubral-Pallidoluysian Atrophy in a Large Series of White Patients With Cerebellar Ataxia","publication_year":2003,"publication_date":"2003-08-01","ids":{"openalex":"https://openalex.org/W2123445992","doi":"https://doi.org/10.1001/archneur.60.8.1097","mag":"2123445992","pmid":"https://pubmed.ncbi.nlm.nih.gov/12925365"},"language":"en","primary_location":{"id":"doi:10.1001/archneur.60.8.1097","doi":"https://doi.org/10.1001/archneur.60.8.1097","is_oa":true,"landing_page_url":"https://doi.org/10.1001/archneur.60.8.1097","pdf_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/784520/noc20337.pdf","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"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/784520/noc20337.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042566383","display_name":"Isabelle Le Ber","orcid":"https://orcid.org/0000-0002-2508-5181","observed_orcids":["https://orcid.org/0000-0002-2508-5181"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Isabelle Le Ber","raw_affiliation_strings":["Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U289, F\u00e9d\u00e9ration de Neurologie, H\u00f4pital Salp\u00eatri\u00e8re, Assistance Publique-H\u00f4pitaux de Paris, 47 boulevard de l'H\u00f4pital, 75651 Paris CEDEX 13, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U289, F\u00e9d\u00e9ration de Neurologie, H\u00f4pital Salp\u00eatri\u00e8re, Assistance Publique-H\u00f4pitaux de Paris, 47 boulevard de l'H\u00f4pital, 75651 Paris CEDEX 13, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109698979","display_name":"Agn\u00e8s Camuzat","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Agn\u00e8s Camuzat","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106085645","display_name":"Giovanni Castelnovo","orcid":"https://orcid.org/0000-0002-9796-3529","observed_orcids":["https://orcid.org/0000-0002-9796-3529"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Giovanni Castelnovo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079181507","display_name":"Jean\u2010Philippe Azulay","orcid":"https://orcid.org/0000-0001-6624-3329","observed_orcids":["https://orcid.org/0000-0001-6624-3329"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jean-Philippe Azulay","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061867624","display_name":"Pierre Genton","orcid":"https://orcid.org/0000-0001-7253-4712","observed_orcids":["https://orcid.org/0000-0001-7253-4712"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pierre Genton","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111403834","display_name":"J L Gastaut","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jean-Louis Gastaut","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002452301","display_name":"Dominique Broglin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dominique Broglin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009282279","display_name":"Pierre M. Labauge","orcid":"https://orcid.org/0000-0001-7759-8555","observed_orcids":["https://orcid.org/0000-0001-7759-8555"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pierre Labauge","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5027293126","display_name":"Alexandra D\u00fcrr","orcid":"https://orcid.org/0000-0002-8921-7104","observed_orcids":["https://orcid.org/0000-0002-8921-7104"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Alexandra D\u00fcrr","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5027293126"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6922,"has_fulltext":true,"cited_by_count":49,"citation_normalized_percentile":{"value":0.61867052,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"60","issue":"8","first_page":"1097","last_page":"1097"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9984999895095825,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0003000000142492354,"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/T13481","display_name":"Neurological diseases and metabolism","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/dentatorubral-pallidoluysian-atrophy","display_name":"dentatorubral-pallidoluysian atrophy","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.9409999847412109},{"id":"https://openalex.org/keywords/prevalence","display_name":"prevalence","score":0.6600000262260437},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.9490000009536743},{"id":"https://openalex.org/keywords/autosomal-dominant-cerebellar-ataxia","display_name":"autosomal dominant cerebellar ataxia","score":0.7919999957084656},{"id":"https://openalex.org/keywords/genetic-anticipation","display_name":"genetic anticipation","score":0.7310000061988831},{"id":"https://openalex.org/keywords/choreoathetosis","display_name":"choreoathetosis","score":0.5759999752044678},{"id":"https://openalex.org/keywords/myoclonic-epilepsy","display_name":"myoclonic epilepsy","score":0.9399999976158142},{"id":"https://openalex.org/keywords/molecular-genetic-testing","display_name":"molecular genetic testing","score":0.46000000834465027},{"id":"https://openalex.org/keywords/european-patients","display_name":"European patients","score":0.5820000171661377}],"concepts":[{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.6936438083648682},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6700339317321777},{"id":"https://openalex.org/C2781467325","wikidata":"https://www.wikidata.org/wiki/Q7248853","display_name":"Progressive myoclonus epilepsy","level":3,"score":0.5841192007064819},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.5660939812660217},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.5476741194725037},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.5317503213882446},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46775388717651367},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.44424617290496826},{"id":"https://openalex.org/C176777502","wikidata":"https://www.wikidata.org/wiki/Q4774623","display_name":"Anticipation (artificial intelligence)","level":2,"score":0.4425600469112396},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.28540757298469543},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.28322386741638184},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24742743372917175},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.22280102968215942},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20979344844818115},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.10372662544250488},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.06017214059829712},{"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/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D005060","descriptor_name":"Europe","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"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":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018911","descriptor_name":"Trinucleotide Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020191","descriptor_name":"Myoclonic Epilepsies, Progressive","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D020191","descriptor_name":"Myoclonic Epilepsies, Progressive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020191","descriptor_name":"Myoclonic Epilepsies, Progressive","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D020191","descriptor_name":"Myoclonic Epilepsies, Progressive","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020191","descriptor_name":"Myoclonic Epilepsies, Progressive","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1001/archneur.60.8.1097","doi":"https://doi.org/10.1001/archneur.60.8.1097","is_oa":true,"landing_page_url":"https://doi.org/10.1001/archneur.60.8.1097","pdf_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/784520/noc20337.pdf","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:12925365","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12925365","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":"Comparative Study"}],"best_oa_location":{"id":"doi:10.1001/archneur.60.8.1097","doi":"https://doi.org/10.1001/archneur.60.8.1097","is_oa":true,"landing_page_url":"https://doi.org/10.1001/archneur.60.8.1097","pdf_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/784520/noc20337.pdf","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"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2123445992.pdf","grobid_xml":"https://content.openalex.org/works/W2123445992.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1971411115","https://openalex.org/W1988032157","https://openalex.org/W1997982282","https://openalex.org/W1998579485","https://openalex.org/W2010089627","https://openalex.org/W2032086401","https://openalex.org/W2033694731","https://openalex.org/W2072751609","https://openalex.org/W2083622907","https://openalex.org/W2088364990","https://openalex.org/W2115345774","https://openalex.org/W2121611533","https://openalex.org/W2129507204","https://openalex.org/W2144804489","https://openalex.org/W2153158846","https://openalex.org/W2160620085","https://openalex.org/W2418202818"],"related_works":["https://openalex.org/W3207889156","https://openalex.org/W2606724317","https://openalex.org/W2080187414","https://openalex.org/W233743464","https://openalex.org/W2093566872","https://openalex.org/W6941255012","https://openalex.org/W2335549209","https://openalex.org/W2396669574","https://openalex.org/W3025368081","https://openalex.org/W2266922862"],"abstract_inverted_index":{"BACKGROUND:":[0],"Dentatorubral-pallidoluysian":[1],"atrophy":[2],"(DRPLA)":[3],"is":[4,15],"a":[5,52,71,86,102,146],"rare":[6],"neurodegenerative":[7],"disorder":[8],"mainly":[9],"diagnosed":[10],"in":[11,17,39,90,94,98,142,163,176,186],"Japan.":[12],"Its":[13],"prevalence":[14],"low":[16,182],"other":[18],"countries.":[19],"Three":[20],"phenotypes":[21],"are":[22],"described:":[23],"choreoathetoid":[24],"movements,":[25],"cerebellar":[26,47,62,68,169],"ataxia,":[27],"and":[28,97,113,121,171,191],"progressive":[29,67],"myoclonic":[30,214],"epilepsy.":[31,215],"OBJECTIVE:":[32],"To":[33],"evaluate":[34],"the":[35,75,80,91,109,114,119,124,143,156,159,180,208],"frequency":[36,157,183],"of":[37,54,74,111,123,131,158,174,184,207],"DRPLA":[38,81,92,185,197],"European":[40],"patients":[41,57,202],"with":[42,58,166,203,205],"sporadic":[43,172,192],"or":[44,66,129,213],"autosomal":[45,60,167],"dominant":[46,61,168],"ataxia.":[48],"METHODS:":[49],"We":[50,84],"analyzed":[51],"series":[53],"809":[55],"index":[56],"either":[59],"ataxia":[63,69,170,175,204],"(416":[64],"families)":[65],"without":[70,101,145],"family":[72,96,103,128,147],"history":[73],"disease":[76,160],"(393":[77],"cases)":[78],"for":[79,196],"mutation.":[82],"RESULTS:":[83],"identified":[85],"CAG":[87,134],"repeat":[88],"expansion":[89,130],"gene":[93],"one":[95,99,206],"patient":[100,144],"history.":[104,148],"The":[105],"familial":[106,190],"case":[107],"illustrates":[108],"phenomenon":[110],"anticipation":[112],"previously":[115],"established":[116],"correlation":[117],"between":[118],"phenotype":[120],"size":[122],"expansion.":[125],"A":[126],"censored-history":[127],"large":[132],"normal":[133],"repeats":[135],"during":[136],"paternal":[137],"transmission":[138],"could":[139,198],"be":[140,199],"implicated":[141],"CONCLUSIONS:":[149],"This":[150],"study":[151],"enables":[152],"us":[153],"to":[154,201],"estimate":[155],"as":[161],"0.25%":[162],"both":[164,189],"families":[165],"cases":[173],"our":[177],"series,":[178],"confirming":[179],"very":[181],"Europe.":[187],"In":[188],"cases,":[193],"molecular":[194],"testing":[195],"restricted":[200],"following":[209],"features:":[210],"chorea,":[211],"dementia,":[212]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
