{"id":"https://openalex.org/W1994636655","doi":"https://doi.org/10.1097/00001756-199401000-00006","title":"The Cu/Zn superoxide dismutase gene in ALS and Parkinsonism-dementia of Guam","display_name":"The Cu/Zn superoxide dismutase gene in ALS and Parkinsonism-dementia of Guam","publication_year":1994,"publication_date":"1994-01-01","ids":{"openalex":"https://openalex.org/W1994636655","doi":"https://doi.org/10.1097/00001756-199401000-00006","mag":"1994636655","pmid":"https://pubmed.ncbi.nlm.nih.gov/8025243"},"language":"de","primary_location":{"id":"doi:10.1097/00001756-199401000-00006","doi":"https://doi.org/10.1097/00001756-199401000-00006","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00001756-199401000-00006","pdf_url":null,"source":{"id":"https://openalex.org/S121278948","display_name":"Neuroreport","issn_l":"0959-4965","issn":["0959-4965","1473-558X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NeuroReport","raw_type":"journal-article"},"volume":null,"type":"article","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/A5070811084","display_name":"Denise A. Figlewicz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800293973","display_name":"Montreal General Hospital","ror":"https://ror.org/04gbhgc79","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2800293973","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["CA","US"],"is_corresponding":false,"raw_author_name":"Denise A. Figlewicz","raw_affiliation_strings":["Centre for Research in Neuroscience, McGill University, Montreal, P.Q., Canada","Centre for Research in Neuroscience, McGill University, and Department of Neurology, Montreal General Hospital, Montreal, P.O., Canada","Neuromuscular Disease Center, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY 14642, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University, Montreal, P.Q., Canada","institution_ids":["https://openalex.org/I5023651"]},{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University, and Department of Neurology, Montreal General Hospital, Montreal, P.O., Canada","institution_ids":["https://openalex.org/I2800293973","https://openalex.org/I5023651"]},{"raw_affiliation_string":"Neuromuscular Disease Center, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY 14642, USA","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050086932","display_name":"Ralph M. Garruto","orcid":"https://orcid.org/0000-0003-4985-8190","observed_orcids":["https://orcid.org/0000-0003-4985-8190"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ralph M. Garruto","raw_affiliation_strings":["Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019065056","display_name":"Aldis Krizus","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800293973","display_name":"Montreal General Hospital","ror":"https://ror.org/04gbhgc79","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2800293973","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Aldis Krizus","raw_affiliation_strings":["Centre for Research in Neuroscience, McGill University, and Department of Neurology, Montreal General Hospital, Montreal, P.O., Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University, and Department of Neurology, Montreal General Hospital, Montreal, P.O., Canada","institution_ids":["https://openalex.org/I2800293973","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066725965","display_name":"Richard T. Yanagihara","orcid":"https://orcid.org/0000-0002-9347-8614","observed_orcids":["https://orcid.org/0000-0002-9347-8614"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Yanagihara","raw_affiliation_strings":["Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002628021","display_name":"Guy Armand Rouleau","orcid":"https://orcid.org/0000-0001-8403-1418","observed_orcids":["https://orcid.org/0000-0001-8403-1418"]},"institutions":[{"id":"https://openalex.org/I2800293973","display_name":"Montreal General Hospital","ror":"https://ror.org/04gbhgc79","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2800293973","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Guy A. Rouleau","raw_affiliation_strings":["Centre for Research in Neuroscience, McGill University, and Department of Neurology, Montreal General Hospital, Montreal, P.O., Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University, and Department of Neurology, Montreal General Hospital, Montreal, P.O., Canada","institution_ids":["https://openalex.org/I2800293973","https://openalex.org/I5023651"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.0753,"has_fulltext":false,"cited_by_count":35,"citation_normalized_percentile":{"value":0.90907865,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"5","issue":"5","first_page":"557","last_page":"560"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T12187","display_name":"Glutathione Transferases and Polymorphisms","score":0.0003000000142492354,"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/cu-zn-superoxide-dismutase","display_name":"Cu/Zn superoxide dismutase","score":0.9660000205039978},{"id":"https://openalex.org/keywords/sod1-gene","display_name":"SOD1 gene","score":0.8640000224113464},{"id":"https://openalex.org/keywords/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":0.9580000042915344},{"id":"https://openalex.org/keywords/guam","display_name":"Guam","score":0.4909999966621399},{"id":"https://openalex.org/keywords/chamorro-people","display_name":"Chamorro people","score":0.8740000128746033},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.6909999847412109},{"id":"https://openalex.org/keywords/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.7490000128746033}],"concepts":[{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.9181852340698242},{"id":"https://openalex.org/C2775838275","wikidata":"https://www.wikidata.org/wiki/Q410776","display_name":"Superoxide dismutase","level":3,"score":0.7492735981941223},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.5567269921302795},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.5332282185554504},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.519816517829895},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.5163406133651733},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4695618450641632},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.46623703837394714},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4124823212623596},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.27695152163505554},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.20591148734092712},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.19454601407051086},{"id":"https://openalex.org/C2776151105","wikidata":"https://www.wikidata.org/wiki/Q898814","display_name":"Oxidative stress","level":2,"score":0.18426570296287537},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.1578620970249176},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.10220453143119812}],"mesh":[{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005006","descriptor_name":"Ethnicity","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006141","descriptor_name":"Guam","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013482","descriptor_name":"Superoxide Dismutase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/00001756-199401000-00006","doi":"https://doi.org/10.1097/00001756-199401000-00006","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00001756-199401000-00006","pdf_url":null,"source":{"id":"https://openalex.org/S121278948","display_name":"Neuroreport","issn_l":"0959-4965","issn":["0959-4965","1473-558X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NeuroReport","raw_type":"journal-article"},{"id":"pmid:8025243","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8025243","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":"Neuroreport","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.7099999785423279,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2225049101","https://openalex.org/W286185286","https://openalex.org/W2089558960","https://openalex.org/W2096386031","https://openalex.org/W7162002813","https://openalex.org/W2095053755","https://openalex.org/W24735827","https://openalex.org/W1987345621","https://openalex.org/W7073983243","https://openalex.org/W1980228931"],"abstract_inverted_index":{"Guam":[0],"is":[1],"one":[2],"of":[3,16,43,59,63,96],"three":[4],"endemic":[5],"foci":[6],"whose":[7],"indigenous":[8],"(Chamorro)":[9],"people":[10],"have":[11,36],"an":[12],"unusually":[13],"high":[14],"incidence":[15],"fatal":[17],"neurodegenerative":[18,94],"disorders,":[19],"amyotrophic":[20],"lateral":[21],"sclerosis":[22],"(ALS)":[23],"and":[24,61],"Parkinsonism-dementia":[25],"(PD).":[26],"Recently,":[27],"mutations":[28,48,73,84],"in":[29,39,49,56,70,76,85],"the":[30,50,57,67,86,92],"Cu/Zn":[31],"superoxide":[32],"dismutase":[33],"(SOD-1)":[34],"gene":[35,52,69,88],"been":[37],"identified":[38],"some":[40],"familial":[41],"cases":[42],"ALS.":[44],"To":[45],"investigate":[46],"if":[47],"SOD-1":[51,68,87],"are":[53],"also":[54],"involved":[55],"pathogenesis":[58],"ALS":[60,79],"PD":[62],"Guam,":[64],"we":[65],"analyzed":[66],"Chamorros.":[71],"No":[72],"were":[74],"found":[75],"Chamorros":[77],"with":[78],"or":[80],"PD,":[81],"indicating":[82],"that":[83],"do":[89],"not":[90],"underlie":[91],"high-incidence":[93],"disorders":[95],"Guam.":[97]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}