{"id":"https://openalex.org/W3195319682","doi":"https://doi.org/10.1007/s12975-021-00926-0","title":"A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy","display_name":"A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy","publication_year":2021,"publication_date":"2021-08-20","ids":{"openalex":"https://openalex.org/W3195319682","doi":"https://doi.org/10.1007/s12975-021-00926-0","mag":"3195319682","pmid":"https://pubmed.ncbi.nlm.nih.gov/34415564","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8918453"},"language":"en","primary_location":{"id":"doi:10.1007/s12975-021-00926-0","doi":"https://doi.org/10.1007/s12975-021-00926-0","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s12975-021-00926-0","pdf_url":"https://link.springer.com/content/pdf/10.1007/s12975-021-00926-0.pdf","source":{"id":"https://openalex.org/S59392935","display_name":"Translational Stroke Research","issn_l":"1868-4483","issn":["1868-4483","1868-601X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Translational Stroke Research","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s12975-021-00926-0.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100404086","display_name":"Qing Li","orcid":"https://orcid.org/0000-0002-3579-5494","observed_orcids":["https://orcid.org/0000-0002-3579-5494"]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]},{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN","US"],"is_corresponding":false,"raw_author_name":"Qing Li","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","Department of Neurology, University of California Irvine, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]},{"raw_affiliation_string":"Department of Neurology, University of California Irvine, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101515226","display_name":"Chengfeng Wang","orcid":"https://orcid.org/0000-0003-2126-6572","observed_orcids":["https://orcid.org/0000-0003-2126-6572"]},"institutions":[{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chengfeng Wang","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100318006","display_name":"Wei Li","orcid":"https://orcid.org/0000-0001-7430-6019","observed_orcids":["https://orcid.org/0000-0001-7430-6019"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210087691","display_name":"Beijing Tian Tan Hospital","ror":"https://ror.org/003regz62","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210087691"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wei Li","raw_affiliation_strings":["China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","Monogenic Disease Diagnosis Center for Neurological Disorders, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","Precision Medicine Research Center for Neurological Disorders, Beijing Tiantan Hospital, Capital Medical University, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210087691"]},{"raw_affiliation_string":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210087691"]},{"raw_affiliation_string":"Monogenic Disease Diagnosis Center for Neurological Disorders, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210087691"]},{"raw_affiliation_string":"Precision Medicine Research Center for Neurological Disorders, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210087691"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102912087","display_name":"Zaiqiang Zhang","orcid":"https://orcid.org/0000-0002-0356-3584","observed_orcids":["https://orcid.org/0000-0002-0356-3584"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210087691","display_name":"Beijing Tian Tan Hospital","ror":"https://ror.org/003regz62","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210087691"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zaiqiang Zhang","raw_affiliation_strings":["China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210087691"]},{"raw_affiliation_string":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210087691"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086473580","display_name":"Shanshan Wang","orcid":"https://orcid.org/0000-0001-8718-1905","observed_orcids":["https://orcid.org/0000-0001-8718-1905"]},"institutions":[{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shanshan Wang","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012018787","display_name":"Autongsha Wupuer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Autongsha Wupuer","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101772336","display_name":"Xiao Hu","orcid":"https://orcid.org/0000-0001-6525-9679","observed_orcids":["https://orcid.org/0000-0001-6525-9679"]},"institutions":[{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao Hu","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079734054","display_name":"Kalibinuer Wumaier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Kalibinuer Wumaier","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113863772","display_name":"Yi Cheng Zhu","orcid":"https://orcid.org/0009-0005-1172-093X","observed_orcids":["https://orcid.org/0009-0005-1172-093X"]},"institutions":[{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yi Zhu","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100455573","display_name":"Hongyan Li","orcid":"https://orcid.org/0000-0001-9006-2499","observed_orcids":["https://orcid.org/0000-0001-9006-2499"]},"institutions":[{"id":"https://openalex.org/I4210122141","display_name":"People's Hospital of Xinjiang Uygur Autonomous Region","ror":"https://ror.org/02r247g67","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210122141"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Hongyan Li","raw_affiliation_strings":["Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China. lhyxxy@126.com","Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China. lhyxxy@126.com","institution_ids":["https://openalex.org/I4210122141"]},{"raw_affiliation_string":"Department of Neurology, People's Hospital of Xinjiang Uygur Autonomous Region, Tianchi Road No. 91, \u00dcr\u00fcmqi, 830000, China","institution_ids":["https://openalex.org/I4210122141"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043655160","display_name":"Wengui Yu","orcid":"https://orcid.org/0000-0003-1664-3580","observed_orcids":["https://orcid.org/0000-0003-1664-3580"]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Wengui Yu","raw_affiliation_strings":[", Orange, CA, USA. wyu@hs.uci.edu","Department of Neurology, University of California Irvine, Irvine, CA, USA. wyu@hs.uci.edu","Department of Neurology, University of California Irvine, Irvine, CA, USA"],"raw_orcid":"https://orcid.org/0000-0003-1664-3580","affiliations":[{"raw_affiliation_string":", Orange, CA, USA. wyu@hs.uci.edu","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology, University of California Irvine, Irvine, CA, USA. wyu@hs.uci.edu","institution_ids":["https://openalex.org/I204250578"]},{"raw_affiliation_string":"Department of Neurology, University of California Irvine, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5043655160","https://openalex.org/A5100455573"],"corresponding_institution_ids":["https://openalex.org/I204250578","https://openalex.org/I4210122141"],"apc_list":{"value":4480,"currency":"USD","value_usd":4480},"apc_paid":{"value":4480,"currency":"USD","value_usd":4480},"fwci":1.5931,"has_fulltext":true,"cited_by_count":19,"citation_normalized_percentile":{"value":0.8425697,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"13","issue":"2","first_page":"238","last_page":"244"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":0.9994999766349792,"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/T11763","display_name":"Intracerebral and Subarachnoid Hemorrhage Research","score":9.999999747378752e-05,"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/T14144","display_name":"Neurological Disease Mechanisms and Treatments","score":0.0,"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/col4a1","display_name":"COL4A1","score":0.8479999899864197},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.8610000014305115},{"id":"https://openalex.org/keywords/3-untranslated-region","display_name":"3' untranslated region","score":0.9509999752044678},{"id":"https://openalex.org/keywords/hereditary-cerebral-small-vessel-disease","display_name":"hereditary cerebral small vessel disease","score":0.8949999809265137},{"id":"https://openalex.org/keywords/lacunar-infarction","display_name":"lacunar infarction","score":0.8009999990463257},{"id":"https://openalex.org/keywords/patent-foramen-ovale","display_name":"patent foramen ovale","score":0.8389999866485596},{"id":"https://openalex.org/keywords/chinese-family","display_name":"Chinese family","score":0.5630000233650208}],"concepts":[{"id":"https://openalex.org/C2779268494","wikidata":"https://www.wikidata.org/wiki/Q1022718","display_name":"CADASIL","level":4,"score":0.9008363485336304},{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.779010534286499},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7496461868286133},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.6491727828979492},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.09329161047935486}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011149","descriptor_name":"Pons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024141","descriptor_name":"Collagen Type IV","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D042783","descriptor_name":"Endothelial Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056784","descriptor_name":"Leukoencephalopathies","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D056784","descriptor_name":"Leukoencephalopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059409","descriptor_name":"Stroke, Lacunar","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1007/s12975-021-00926-0","doi":"https://doi.org/10.1007/s12975-021-00926-0","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s12975-021-00926-0","pdf_url":"https://link.springer.com/content/pdf/10.1007/s12975-021-00926-0.pdf","source":{"id":"https://openalex.org/S59392935","display_name":"Translational Stroke Research","issn_l":"1868-4483","issn":["1868-4483","1868-601X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Translational Stroke Research","raw_type":"journal-article"},{"id":"pmid:34415564","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34415564","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":"Translational stroke research","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8918453","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8918453/","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Transl Stroke Res","raw_type":"Text"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt1ks5f2w0","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.org/uc/item/1ks5f2w0","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Translational Stroke Research, vol 13, iss 2","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1007/s12975-021-00926-0","doi":"https://doi.org/10.1007/s12975-021-00926-0","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s12975-021-00926-0","pdf_url":"https://link.springer.com/content/pdf/10.1007/s12975-021-00926-0.pdf","source":{"id":"https://openalex.org/S59392935","display_name":"Translational Stroke Research","issn_l":"1868-4483","issn":["1868-4483","1868-601X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Translational Stroke Research","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5145632137","display_name":null,"funder_award_id":"201709655008","funder_id":"https://openalex.org/F4320322725","funder_display_name":"China Scholarship Council"}],"funders":[{"id":"https://openalex.org/F4320322725","display_name":"China Scholarship Council","ror":"https://ror.org/04atp4p48"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3195319682.pdf","grobid_xml":"https://content.openalex.org/works/W3195319682.grobid-xml"},"referenced_works_count":24,"referenced_works":["https://openalex.org/W1480729244","https://openalex.org/W1980339876","https://openalex.org/W2001512757","https://openalex.org/W2019977416","https://openalex.org/W2028395862","https://openalex.org/W2037002542","https://openalex.org/W2047478442","https://openalex.org/W2067395123","https://openalex.org/W2082432121","https://openalex.org/W2104901197","https://openalex.org/W2124247204","https://openalex.org/W2138595885","https://openalex.org/W2150243412","https://openalex.org/W2151720801","https://openalex.org/W2162695141","https://openalex.org/W2539718394","https://openalex.org/W2589707385","https://openalex.org/W2600809049","https://openalex.org/W2899991876","https://openalex.org/W2964359157","https://openalex.org/W2992566662","https://openalex.org/W2997969962","https://openalex.org/W3012189294","https://openalex.org/W3094260479"],"related_works":["https://openalex.org/W4407798152","https://openalex.org/W4387106713","https://openalex.org/W4320710008","https://openalex.org/W2964359157","https://openalex.org/W7168165287","https://openalex.org/W2765320013","https://openalex.org/W2539718394","https://openalex.org/W1852730719","https://openalex.org/W2997969962","https://openalex.org/W2161017573"],"abstract_inverted_index":{"Pontine":[0],"autosomal":[1],"dominant":[2],"microangiopathy":[3],"and":[4,47,73,92,104,143,155,180,190,203,237],"leukoencephalopathy":[5],"(PADMAL)":[6],"is":[7],"a":[8,17,28,83,116],"rare":[9],"hereditary":[10],"cerebral":[11],"small":[12],"vessel":[13,207],"disease.":[14],"We":[15],"report":[16],"novel":[18,117,214],"collagen":[19],"type":[20],"IV":[21],"alpha":[22],"1":[23],"(COL4A1)":[24],"gene":[25,153,231],"mutation":[26,121,218],"in":[27,68,101,122,171,199,233],"Chinese":[29],"family":[30,150],"with":[31,55,235],"PADMAL.":[32,184],"The":[33,185],"index":[34],"case":[35],"was":[36,79],"followed":[37],"up":[38],"for":[39,82],"6":[40],"years.":[41],"Neuroimaging,":[42],"whole-exome":[43],"sequencing,":[44],"skin":[45],"biopsy,":[46],"pedigree":[48,173],"analysis":[49],"were":[50,159],"performed.":[51],"She":[52],"initially":[53],"presented":[54],"minor":[56],"head":[57],"injury":[58],"at":[59],"age":[60],"38.":[61],"MRI":[62,181],"brain":[63],"showed":[64],"chronic":[65],"lacunar":[66,99],"infarcts":[67,100],"the":[69,95,102,123,163,168,172,195,200,206,213,222,227],"pons,":[70],"left":[71],"thalamus,":[72],"right":[74],"centrum":[75],"semiovale.":[76],"Extensive":[77],"workup":[78],"unremarkable":[80],"except":[81],"patent":[84],"foramen":[85],"ovale":[86],"(PFO).":[87],"Despite":[88],"anticoagulation,":[89],"PFO":[90],"closure,":[91],"antiplatelet":[93],"therapy,":[94],"patient":[96],"had":[97,152,178],"recurrent":[98],"pons":[103],"deep":[105],"white":[106],"matter,":[107],"as":[108,110,226],"well":[109],"subcortical":[111],"microhemorrhages.":[112],"Whole-exome":[113],"sequencing":[114],"demonstrated":[115,133],"c.*34G":[118,215],">":[119,216],"T":[120,217],"3'":[124],"untranslated":[125],"region":[126],"of":[127,135,140,145,157,174,183,187,197,205,240],"COL4A1":[128,230],"gene.":[129],"Skin":[130],"biopsy":[131],"subsequently":[132],"thickening":[134],"vascular":[136,146],"basement":[137,201],"membrane,":[138],"proliferation":[139],"endothelial":[141],"cells,":[142],"stenosis":[144],"lumen.":[147],"Three":[148],"additional":[149],"members":[151],"testing":[154],"2":[156],"them":[158],"found":[160],"to":[161,220],"have":[162,221],"same":[164,223],"heterozygous":[165],"mutation.":[166],"Of":[167],"18":[169],"individuals":[170],"3":[175],"generations,":[176],"12":[177],"clinical":[179],"evidence":[182],"mechanisms":[186],"both":[188],"ischemic":[189],"hemorrhagic":[191],"stroke":[192],"are":[193],"likely":[194],"overexpression":[196],"COLT4A1":[198],"membrane":[202],"frugality":[204],"walls.":[208],"Our":[209],"findings":[210],"suggest":[211],"that":[212],"appears":[219],"functional":[224],"consequences":[225],"previously":[228],"reported":[229],"mutations":[232],"patients":[234],"PADMAL":[236],"multi-infarct":[238],"dementia":[239],"Swedish":[241],"type.":[242]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2021-08-30T00:00:00"}
