{"id":"https://openalex.org/W1991817429","doi":"https://doi.org/10.1002/ana.10080","title":"A novel, blood\u2010based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy","display_name":"A novel, blood\u2010based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy","publication_year":2001,"publication_date":"2001-12-31","ids":{"openalex":"https://openalex.org/W1991817429","doi":"https://doi.org/10.1002/ana.10080","mag":"1991817429","pmid":"https://pubmed.ncbi.nlm.nih.gov/11782994"},"language":"en","primary_location":{"id":"doi:10.1002/ana.10080","doi":"https://doi.org/10.1002/ana.10080","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.10080","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006432577","display_name":"Mengfatt Ho","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mengfatt Ho","raw_affiliation_strings":["Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts 2129, USA","Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts 2129, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071887992","display_name":"Eduard Gallardo","orcid":"https://orcid.org/0000-0002-3942-3436","observed_orcids":["https://orcid.org/0000-0002-3942-3436"]},"institutions":[{"id":"https://openalex.org/I123044942","display_name":"Universitat Aut\u00f2noma de Barcelona","ror":"https://ror.org/052g8jq94","country_code":"ES","type":"education","lineage":["https://openalex.org/I123044942"]},{"id":"https://openalex.org/I2801795740","display_name":"Hospital de Sant Pau","ror":"https://ror.org/059n1d175","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2801795740"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Eduard Gallardo","raw_affiliation_strings":["Department of Neurology, Neuromuscular Diseases Section, Hospital Santa Creu i St Pau, Universitat Autonoma de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Neuromuscular Diseases Section, Hospital Santa Creu i St Pau, Universitat Autonoma de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I123044942","https://openalex.org/I2801795740"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110265364","display_name":"Diane M. McKenna-Yasek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Diane McKenna\u2010Yasek","raw_affiliation_strings":["Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046918434","display_name":"Noem\u00ed de Luna","orcid":"https://orcid.org/0000-0002-4342-794X","observed_orcids":["https://orcid.org/0000-0002-4342-794X"]},"institutions":[{"id":"https://openalex.org/I123044942","display_name":"Universitat Aut\u00f2noma de Barcelona","ror":"https://ror.org/052g8jq94","country_code":"ES","type":"education","lineage":["https://openalex.org/I123044942"]},{"id":"https://openalex.org/I2801795740","display_name":"Hospital de Sant Pau","ror":"https://ror.org/059n1d175","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2801795740"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Noemi De Luna","raw_affiliation_strings":["Department of Neurology, Neuromuscular Diseases Section, Hospital Santa Creu i St Pau, Universitat Autonoma de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Neuromuscular Diseases Section, Hospital Santa Creu i St Pau, Universitat Autonoma de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I123044942","https://openalex.org/I2801795740"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048129993","display_name":"Isabel Illa","orcid":"https://orcid.org/0000-0002-2186-2684","observed_orcids":["https://orcid.org/0000-0002-2186-2684"]},"institutions":[{"id":"https://openalex.org/I123044942","display_name":"Universitat Aut\u00f2noma de Barcelona","ror":"https://ror.org/052g8jq94","country_code":"ES","type":"education","lineage":["https://openalex.org/I123044942"]},{"id":"https://openalex.org/I2801795740","display_name":"Hospital de Sant Pau","ror":"https://ror.org/059n1d175","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2801795740"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Isabel Illa","raw_affiliation_strings":["Department of Neurology, Neuromuscular Diseases Section, Hospital Santa Creu i St Pau, Universitat Autonoma de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Neuromuscular Diseases Section, Hospital Santa Creu i St Pau, Universitat Autonoma de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I123044942","https://openalex.org/I2801795740"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108588064","display_name":"Robert H. Brown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert H. Brown Jr.","raw_affiliation_strings":["Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":1.3464,"has_fulltext":false,"cited_by_count":112,"citation_normalized_percentile":{"value":0.78087874,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"51","issue":"1","first_page":"129","last_page":"133"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9872999787330627,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.9872999787330627,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00419999985024333,"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"}},{"id":"https://openalex.org/T11724","display_name":"Inflammatory Myopathies and Dermatomyositis","score":0.0019000000320374966,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/limb-girdle-muscular-dystrophy-2b","display_name":"limb-girdle muscular dystrophy 2B","score":0.9750000238418579},{"id":"https://openalex.org/keywords/miyoshi-myopathy","display_name":"Miyoshi myopathy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/dysferlin","display_name":"dysferlin","score":0.9039999842643738},{"id":"https://openalex.org/keywords/monoclonal-antibodies","display_name":"monoclonal antibodies","score":0.8220000267028809},{"id":"https://openalex.org/keywords/immunodiagnosis","display_name":"immunodiagnosis","score":0.7829999923706055},{"id":"https://openalex.org/keywords/non-invasive-diagnosis","display_name":"non-invasive diagnosis","score":0.5559999942779541},{"id":"https://openalex.org/keywords/allelic-disorders","display_name":"allelic disorders","score":0.5799999833106995}],"concepts":[{"id":"https://openalex.org/C2778649560","wikidata":"https://www.wikidata.org/wiki/Q1531322","display_name":"Limb-girdle muscular dystrophy","level":4,"score":0.9432434439659119},{"id":"https://openalex.org/C37113945","wikidata":"https://www.wikidata.org/wiki/Q14885337","display_name":"Dysferlin","level":3,"score":0.9233783483505249},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.8095494508743286},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.7480484843254089},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.5998928546905518},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5730398893356323},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4534703195095062},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.35096126794815063},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.30390506982803345},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2032257616519928},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.15363579988479614},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.13374114036560059},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.13286378979682922},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11508321762084961}],"mesh":[{"descriptor_ui":"D000073939","descriptor_name":"Dysferlin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000911","descriptor_name":"Antibodies, Monoclonal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009000","descriptor_name":"Monocytes","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011933","descriptor_name":"Reagent Kits, Diagnostic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D015152","descriptor_name":"Blotting, Northern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ana.10080","doi":"https://doi.org/10.1002/ana.10080","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.10080","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:11782994","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11782994","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":"Annals of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1551910894","https://openalex.org/W1592698849","https://openalex.org/W1608405154","https://openalex.org/W1982268478","https://openalex.org/W1994599070","https://openalex.org/W1999779304","https://openalex.org/W2004484191","https://openalex.org/W2024906556","https://openalex.org/W2045584862","https://openalex.org/W2079813425","https://openalex.org/W2102958109","https://openalex.org/W2106862730","https://openalex.org/W2108670166","https://openalex.org/W2109931578","https://openalex.org/W2123722987"],"related_works":["https://openalex.org/W4232948283","https://openalex.org/W1490256361","https://openalex.org/W2098350175","https://openalex.org/W2442124751","https://openalex.org/W2518121515","https://openalex.org/W2972730543","https://openalex.org/W2386189825","https://openalex.org/W2162499576","https://openalex.org/W4317821188","https://openalex.org/W52443429"],"abstract_inverted_index":{"Limb":[0],"girdle":[1,31,99],"muscular":[2,32,100],"dystrophy":[3,33,101],"2B":[4,34,102],"and":[5,35,65,86],"Miyoshi":[6,36,104],"myopathy":[7],"were":[8],"recently":[9],"found":[10],"to":[11],"be":[12],"allelic":[13],"disorders":[14],"arising":[15],"from":[16,119],"defects":[17],"in":[18,43],"the":[19,60,80,84,106,110,117],"dysferlin":[20,41],"gene.":[21],"We":[22],"have":[23],"developed":[24],"a":[25,46,67],"new":[26,61,111],"diagnostic":[27],"assay":[28,112],"for":[29,40,58,72],"limb":[30,98],"myopathy,":[37,105],"which":[38],"screens":[39],"expression":[42],"blood":[44],"using":[45,109],"commercially":[47],"available":[48],"monoclonal":[49],"antibody.":[50],"Unlike":[51],"current":[52],"methods":[53],"that":[54],"require":[55],"muscle":[56,89,120],"biopsy":[57],"immunodiagnosis,":[59],"method":[62],"is":[63],"simple":[64],"entails":[66],"significantly":[68],"less":[69],"invasive":[70],"procedure":[71],"tissue":[73],"sampling.":[74],"Moreover,":[75],"it":[76],"overcomes":[77],"some":[78],"of":[79,88,94],"problems":[81],"associated":[82],"with":[83,97,116],"handling":[85],"storage":[87],"specimens.":[90],"In":[91],"our":[92],"analysis":[93],"12":[95],"patients":[96],"or":[103],"findings":[107],"obtained":[108],"are":[113],"fully":[114],"consistent":[115],"results":[118],"immunodiagnosis.":[121]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":10},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}