{"id":"https://openalex.org/W166115552","doi":null,"title":"Genetic Characterisation of Neurodegenerative disorders","display_name":"Genetic Characterisation of Neurodegenerative disorders","publication_year":2007,"publication_date":"2007-10-01","ids":{"openalex":"https://openalex.org/W166115552","mag":"166115552"},"language":"en","primary_location":{"id":"pmh:hdl:10068/956171","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10068/956171","pdf_url":null,"source":{"id":"https://openalex.org/S4377196900","display_name":"OpenGrey (Institut de l'Information Scientifique et Technique)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1295345811","host_organization_name":"Institut de l'Information Scientifique et Technique","host_organization_lineage":["https://openalex.org/I1295345811"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"U - Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10068/956171","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5005397828","display_name":"Hon\u2010Chung Fung","orcid":"https://orcid.org/0000-0002-4829-500X","observed_orcids":["https://orcid.org/0000-0002-4829-500X"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Hon\u2010Chung Fung","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5005397828"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.7773000001907349,"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.7773000001907349,"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.1648000031709671,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.03099999949336052,"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/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.9879999756813049},{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9350000023841858},{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":1.0},{"id":"https://openalex.org/keywords/progressive-supranuclear-palsy","display_name":"progressive supranuclear palsy","score":1.0},{"id":"https://openalex.org/keywords/corticobasal-degeneration","display_name":"corticobasal degeneration","score":1.0},{"id":"https://openalex.org/keywords/mapt","display_name":"MAPT","score":0.8029999732971191},{"id":"https://openalex.org/keywords/tau-protein","display_name":"tau protein","score":0.5849999785423279},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.7570000290870667},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.718999981880188},{"id":"https://openalex.org/keywords/population-genetics","display_name":"population genetics","score":0.4090000092983246},{"id":"https://openalex.org/keywords/whole-genome-association-studies","display_name":"whole-genome association studies","score":0.8259999752044678},{"id":"https://openalex.org/keywords/candidate-loci","display_name":"candidate loci","score":0.8140000104904175},{"id":"https://openalex.org/keywords/common-genetic-variants","display_name":"common genetic variants","score":0.48899999260902405}],"concepts":[{"id":"https://openalex.org/C2776477761","wikidata":"https://www.wikidata.org/wiki/Q945930","display_name":"Progressive supranuclear palsy","level":3,"score":0.8463426828384399},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7017583847045898},{"id":"https://openalex.org/C2776936178","wikidata":"https://www.wikidata.org/wiki/Q1755684","display_name":"Corticobasal degeneration","level":4,"score":0.6783496141433716},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5573670268058777},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5397089719772339},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.49827098846435547},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.48651236295700073},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.4743313193321228},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.45205140113830566},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3829517066478729},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.241468608379364},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2385328710079193},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.233659565448761},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.18444037437438965},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.16276317834854126},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.05214604735374451},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:hdl:10068/956171","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10068/956171","pdf_url":null,"source":{"id":"https://openalex.org/S4377196900","display_name":"OpenGrey (Institut de l'Information Scientifique et Technique)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1295345811","host_organization_name":"Institut de l'Information Scientifique et Technique","host_organization_lineage":["https://openalex.org/I1295345811"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"U - Thesis"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:4930","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/4930/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Doctoral thesis, University of London.","raw_type":"Thesis"},{"id":"mag:166115552","doi":null,"is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/4930","pdf_url":null,"source":{"id":"https://openalex.org/S4306508234","display_name":"Doctoral thesis, University of London.","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":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Doctoral thesis, University of London.","raw_type":null}],"best_oa_location":{"id":"pmh:hdl:10068/956171","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10068/956171","pdf_url":null,"source":{"id":"https://openalex.org/S4377196900","display_name":"OpenGrey (Institut de l'Information Scientifique et Technique)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1295345811","host_organization_name":"Institut de l'Information Scientifique et Technique","host_organization_lineage":["https://openalex.org/I1295345811"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"U - Thesis"},"sustainable_development_goals":[{"score":0.9940000176429749,"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":193,"referenced_works":["https://openalex.org/W127887356","https://openalex.org/W150987474","https://openalex.org/W285984173","https://openalex.org/W1482580692","https://openalex.org/W1504157542","https://openalex.org/W1511517753","https://openalex.org/W1527671059","https://openalex.org/W1529630566","https://openalex.org/W1561023982","https://openalex.org/W1583476286","https://openalex.org/W1588125132","https://openalex.org/W1618846043","https://openalex.org/W1776539077","https://openalex.org/W1847168837","https://openalex.org/W1877873625","https://openalex.org/W1967464880","https://openalex.org/W1968813853","https://openalex.org/W1968921084","https://openalex.org/W1969790498","https://openalex.org/W1969800514","https://openalex.org/W1971724395","https://openalex.org/W1972939055","https://openalex.org/W1973237516","https://openalex.org/W1973907174","https://openalex.org/W1979756237","https://openalex.org/W1981510818","https://openalex.org/W1983572621","https://openalex.org/W1983768810","https://openalex.org/W1985090720","https://openalex.org/W1989144090","https://openalex.org/W1989946272","https://openalex.org/W1990115112","https://openalex.org/W1991483073","https://openalex.org/W1991810020","https://openalex.org/W1992589625","https://openalex.org/W1994030229","https://openalex.org/W1995152171","https://openalex.org/W1996731829","https://openalex.org/W1997142900","https://openalex.org/W1997188060","https://openalex.org/W1997709333","https://openalex.org/W1997759222","https://openalex.org/W1997999262","https://openalex.org/W1999377301","https://openalex.org/W1999790144","https://openalex.org/W1999893655","https://openalex.org/W2001531098","https://openalex.org/W2001657456","https://openalex.org/W2001688761","https://openalex.org/W2004004906","https://openalex.org/W2004950789","https://openalex.org/W2005500065","https://openalex.org/W2005671109","https://openalex.org/W2007157911","https://openalex.org/W2008560062","https://openalex.org/W2011200428","https://openalex.org/W2015408724","https://openalex.org/W2016473759","https://openalex.org/W2018756041","https://openalex.org/W2019501962","https://openalex.org/W2020631323","https://openalex.org/W2021181758","https://openalex.org/W2022943439","https://openalex.org/W2025239936","https://openalex.org/W2026852774","https://openalex.org/W2027771129","https://openalex.org/W2030430468","https://openalex.org/W2030447006","https://openalex.org/W2032963931","https://openalex.org/W2035282018","https://openalex.org/W2035318781","https://openalex.org/W2035355411","https://openalex.org/W2039204402","https://openalex.org/W2039352533","https://openalex.org/W2040746517","https://openalex.org/W2041779517","https://openalex.org/W2041922475","https://openalex.org/W2043661712","https://openalex.org/W2045153164","https://openalex.org/W2045671840","https://openalex.org/W2046015265","https://openalex.org/W2046177676","https://openalex.org/W2046209489","https://openalex.org/W2047080490","https://openalex.org/W2047300945","https://openalex.org/W2047948527","https://openalex.org/W2049387709","https://openalex.org/W2050329547","https://openalex.org/W2050741655","https://openalex.org/W2051455922","https://openalex.org/W2052221316","https://openalex.org/W2053062623","https://openalex.org/W2054873349","https://openalex.org/W2056713533","https://openalex.org/W2056725861","https://openalex.org/W2057029036","https://openalex.org/W2058723245","https://openalex.org/W2062360332","https://openalex.org/W2065121811","https://openalex.org/W2065996976","https://openalex.org/W2066433054","https://openalex.org/W2066669827","https://openalex.org/W2067763791","https://openalex.org/W2073527744","https://openalex.org/W2077598833","https://openalex.org/W2079493663","https://openalex.org/W2079501979","https://openalex.org/W2079672765","https://openalex.org/W2081768153","https://openalex.org/W2083219512","https://openalex.org/W2083633251","https://openalex.org/W2084078835","https://openalex.org/W2084779849","https://openalex.org/W2086787068","https://openalex.org/W2088185367","https://openalex.org/W2089364726","https://openalex.org/W2092754504","https://openalex.org/W2095351291","https://openalex.org/W2095499628","https://openalex.org/W2095519862","https://openalex.org/W2096410114","https://openalex.org/W2096623085","https://openalex.org/W2097504226","https://openalex.org/W2097574142","https://openalex.org/W2097576041","https://openalex.org/W2097835289","https://openalex.org/W2098187463","https://openalex.org/W2100300726","https://openalex.org/W2104382960","https://openalex.org/W2107889007","https://openalex.org/W2107977469","https://openalex.org/W2109342343","https://openalex.org/W2110888808","https://openalex.org/W2111567107","https://openalex.org/W2111774300","https://openalex.org/W2111822827","https://openalex.org/W2112255475","https://openalex.org/W2113491588","https://openalex.org/W2113784410","https://openalex.org/W2114415876","https://openalex.org/W2116229231","https://openalex.org/W2119062449","https://openalex.org/W2120483845","https://openalex.org/W2121229721","https://openalex.org/W2121812565","https://openalex.org/W2123098521","https://openalex.org/W2124277514","https://openalex.org/W2126070767","https://openalex.org/W2126264983","https://openalex.org/W2129676131","https://openalex.org/W2129690650","https://openalex.org/W2130348423","https://openalex.org/W2133779482","https://openalex.org/W2134412560","https://openalex.org/W2135732313","https://openalex.org/W2136388422","https://openalex.org/W2137301167","https://openalex.org/W2138834360","https://openalex.org/W2139369185","https://openalex.org/W2140126911","https://openalex.org/W2141839336","https://openalex.org/W2142286857","https://openalex.org/W2142752948","https://openalex.org/W2143322087","https://openalex.org/W2143604549","https://openalex.org/W2144911879","https://openalex.org/W2146908971","https://openalex.org/W2149435570","https://openalex.org/W2150100666","https://openalex.org/W2150469601","https://openalex.org/W2150656456","https://openalex.org/W2152664025","https://openalex.org/W2153348456","https://openalex.org/W2153536347","https://openalex.org/W2154737306","https://openalex.org/W2156220037","https://openalex.org/W2156341632","https://openalex.org/W2158489424","https://openalex.org/W2159377066","https://openalex.org/W2159474230","https://openalex.org/W2163864270","https://openalex.org/W2167141135","https://openalex.org/W2170724596","https://openalex.org/W2171660142","https://openalex.org/W2172007938","https://openalex.org/W2195074286","https://openalex.org/W2330422707","https://openalex.org/W2404878683","https://openalex.org/W2409478490","https://openalex.org/W2418781767","https://openalex.org/W3024300525","https://openalex.org/W4210821588","https://openalex.org/W7095201380"],"related_works":["https://openalex.org/W2598332500","https://openalex.org/W2737317838","https://openalex.org/W2040329629","https://openalex.org/W2110331723","https://openalex.org/W2331068058","https://openalex.org/W2130348423","https://openalex.org/W2950810708","https://openalex.org/W2093751739","https://openalex.org/W2054873349","https://openalex.org/W2142120135"],"abstract_inverted_index":{"Our":[0],"global":[1],"population":[2],"is":[3,106,160],"ageing":[4],"and":[5,36,126,137,145,191,222,232,277],"an":[6,107],"ever":[7],"increasing":[8],"number":[9],"of":[10,20,50,63,71,92,94,100,140,150,157,174,179,182,185,216,238,285],"elderly":[11],"are":[12,116,208],"affected":[13],"with":[14,167,201,230],"neurodegenerative":[15,52,81,113,141],"diseases,":[16,53,142],"including":[17],"the":[18,21,48,54,61,68,88,101,132,138,143,147,164,202,217,280],"subjects":[19],"studies":[22,181],"in":[23,60,163,187,193,198,210,243,246,258,262,272,290],"this":[24,64,199,244,273],"work,":[25],"Alzheimer's":[26],"disease":[27,30,261,286],"(AD),":[28],"Parkinson's":[29],"(PD),":[31],"progressive":[32],"supranuclear":[33],"palsy":[34],"(PSP)":[35],"corticobasal":[37],"degeneration":[38],"(CBD).":[39],"On":[40],"strong":[41],"evidence":[42],"that":[43,74,87,99,204],"several":[44],"genes":[45],"may":[46,75],"influence":[47],"development":[49],"sporadic":[51],"genetic":[55,90,109,252,288],"association":[56,180,229,236,275],"approach":[57],"was":[58,240],"used":[59],"work":[62,200],"thesis":[65],"to":[66,78,130,248],"identify":[67],"multiple":[69],"variants":[70,136,215,289],"small":[72],"effect":[73,257],"modulate":[76],"susceptibility":[77,96],"common,":[79],"complex":[80],"diseases.":[82,114],"It":[83],"has":[84],"been":[85,153,270],"shown":[86],"common":[89,183,205,214,224,251],"variation":[91,184],"one":[93,223],"these":[95,211],"genes,":[97],"MAPT,":[98],"microtubule":[102],"associated":[103],"protein,":[104],"tau,":[105],"important":[108],"risk":[110,259],"factor":[111],"for":[112,260,282],"There":[115],"two":[117],"major":[118,148],"MAPT":[119,135,151,186],"haplotypes":[120,149,219],"at":[121],"17q21.31":[122],"designated":[123],"as":[124],"H1":[125,218],"H2.":[127],"In":[128],"order":[129,247],"dissect":[131],"relationship":[133],"between":[134],"pathogenesis":[139],"architecture":[144],"distribution":[146,156],"have":[152,269],"assessed.":[154],"The":[155],"H2":[158,171],"haplotype":[159],"almost":[161],"exclusively":[162],"Caucasian":[165],"population,":[166],"other":[168],"populations":[169,195],"having":[170],"allele":[172],"frequencies":[173],"essentially":[175],"zero.":[176],"A":[177,234],"series":[178],"PSP,":[188],"CBD,":[189],"AD":[190],"PD":[192,239],"different":[194],"were":[196,220],"performed":[197],"hypothesis":[203],"molecular":[206],"pathways":[207],"involved":[209],"disorders.":[212],"Multiple":[213],"identified":[221],"haplotype,":[225],"H1c,":[226],"showed":[227],"preferential":[228],"PSP":[231],"AD.":[233],"whole-genome":[235,274],"study":[237,245,276],"also":[241],"undertaken":[242],"detect":[249],"if":[250],"variability":[253],"exerts":[254],"a":[255],"large":[256],"idiopathic":[263,291],"PD.":[264,292],"Twenty":[265],"six":[266],"candidate":[267],"loci":[268],"found":[271],"they":[278],"provide":[279],"basis":[281],"our":[283],"investigation":[284],"causing":[287]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}