{"id":"https://openalex.org/W2108205752","doi":"https://doi.org/10.1016/0387-7604(95)00078-x","title":"Pelizaeus-Merzbacher-like disease: female case report","display_name":"Pelizaeus-Merzbacher-like disease: female case report","publication_year":1996,"publication_date":"1996-03-01","ids":{"openalex":"https://openalex.org/W2108205752","doi":"https://doi.org/10.1016/0387-7604(95)00078-x","mag":"2108205752","pmid":"https://pubmed.ncbi.nlm.nih.gov/8733901"},"language":"en","primary_location":{"id":"doi:10.1016/0387-7604(95)00078-x","doi":"https://doi.org/10.1016/0387-7604(95)00078-x","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0387-7604(95)00078-x","pdf_url":null,"source":{"id":"https://openalex.org/S122866201","display_name":"Brain and Development","issn_l":"0387-7604","issn":["0387-7604","1872-7131"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","erih-plus","jufo-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain and Development","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2108205752"],"child_works_count":0,"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/A5113624514","display_name":"Atsuo Nezu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Atsuo Nezu","raw_affiliation_strings":["Department of Pediatrics, Urafune Hospital of Yokohama City University, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Urafune Hospital of Yokohama City University, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061516919","display_name":"Seiji Kimura","orcid":"https://orcid.org/0000-0003-1632-4141","observed_orcids":["https://orcid.org/0000-0003-1632-4141"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Seiji Kimura","raw_affiliation_strings":["Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059472645","display_name":"Saori Uehara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Saori Uehara","raw_affiliation_strings":["Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034163966","display_name":"Hitoshi Osaka","orcid":"https://orcid.org/0000-0002-1320-1165","observed_orcids":["https://orcid.org/0000-0002-1320-1165"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hitoshi Osaka","raw_affiliation_strings":["Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100613282","display_name":"Takuya Kobayashi","orcid":"https://orcid.org/0000-0002-0701-8372","observed_orcids":["https://orcid.org/0000-0002-0701-8372"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takuya Kobayashi","raw_affiliation_strings":["Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111895914","display_name":"Mitsuyo Haraguchi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mitsuyo Haraguchi","raw_affiliation_strings":["Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Urafune Hospital of Yokohama City University, Urafune-cho, 3-46, Minami-ku, Yokohama 232, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103240387","display_name":"Ken Inoue","orcid":"https://orcid.org/0000-0003-4353-438X","observed_orcids":["https://orcid.org/0000-0003-4353-438X"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Ken Inoue","raw_affiliation_strings":["Department of Psychiatry, Yokohama City University School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Yokohama City University School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5106725433","display_name":"Chiaki Kawanishi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Chiaki Kawanishi","raw_affiliation_strings":["Department of Psychiatry, Yokohama City University School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Yokohama City University School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I89630735"],"apc_list":{"value":2810,"currency":"USD","value_usd":2810},"apc_paid":null,"fwci":0.2503,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.42074377,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"18","issue":"2","first_page":"114","last_page":"118"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9609000086784363,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.9609000086784363,"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/T10137","display_name":"Multiple Sclerosis Research Studies","score":0.018300000578165054,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0044999998062849045,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/pelizaeus-merzbacher-disease","display_name":"Pelizaeus-Merzbacher disease","score":0.9380000233650208},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7879999876022339},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.6119999885559082},{"id":"https://openalex.org/keywords/pendular-nystagmus","display_name":"pendular nystagmus","score":0.7730000019073486},{"id":"https://openalex.org/keywords/spastic-gait","display_name":"spastic gait","score":0.9079999923706055},{"id":"https://openalex.org/keywords/ataxia","display_name":"ataxia","score":0.8809999823570251},{"id":"https://openalex.org/keywords/dysarthria","display_name":"dysarthria","score":0.9570000171661377},{"id":"https://openalex.org/keywords/nerve-conduction-slowing","display_name":"nerve conduction slowing","score":0.7649999856948853},{"id":"https://openalex.org/keywords/proteolipid-protein","display_name":"proteolipid protein","score":0.7260000109672546},{"id":"https://openalex.org/keywords/adolescent-girls","display_name":"adolescent girls","score":0.4490000009536743}],"concepts":[{"id":"https://openalex.org/C2779248548","wikidata":"https://www.wikidata.org/wiki/Q755524","display_name":"Athetosis","level":4,"score":0.6838486790657043},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5712018609046936},{"id":"https://openalex.org/C2777639682","wikidata":"https://www.wikidata.org/wiki/Q225957","display_name":"Dysarthria","level":2,"score":0.5369685888290405},{"id":"https://openalex.org/C2779012798","wikidata":"https://www.wikidata.org/wiki/Q117060","display_name":"Spasticity","level":2,"score":0.48664984107017517},{"id":"https://openalex.org/C2779736392","wikidata":"https://www.wikidata.org/wiki/Q220989","display_name":"Nystagmus","level":2,"score":0.47102007269859314},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.453057199716568},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.44787225127220154},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4471844434738159},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3818332552909851},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.34444648027420044},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3394608199596405},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3317241072654724},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3024502396583557},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.2108992636203766},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.1723882257938385},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.11638301610946655},{"id":"https://openalex.org/C2778868616","wikidata":"https://www.wikidata.org/wiki/Q1076421","display_name":"Chorea","level":3,"score":0.07269680500030518}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003711","descriptor_name":"Demyelinating Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004585","descriptor_name":"Electrooculography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005071","descriptor_name":"Evoked Potentials","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000502","qualifier_name":"physiology","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009185","descriptor_name":"Myelin Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009185","descriptor_name":"Myelin Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D015225","descriptor_name":"Magnetoencephalography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/0387-7604(95)00078-x","doi":"https://doi.org/10.1016/0387-7604(95)00078-x","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0387-7604(95)00078-x","pdf_url":null,"source":{"id":"https://openalex.org/S122866201","display_name":"Brain and Development","issn_l":"0387-7604","issn":["0387-7604","1872-7131"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","erih-plus","jufo-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain and Development","raw_type":"journal-article"},{"id":"pmid:8733901","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8733901","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":"Brain & development","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1568386317","https://openalex.org/W1845440866","https://openalex.org/W1913192488","https://openalex.org/W1968973106","https://openalex.org/W1974307034","https://openalex.org/W1976620310","https://openalex.org/W1982019011","https://openalex.org/W1998376866","https://openalex.org/W2013362473","https://openalex.org/W2022421778","https://openalex.org/W2033227893","https://openalex.org/W2036490279","https://openalex.org/W2044908612","https://openalex.org/W2047845962","https://openalex.org/W2059089909","https://openalex.org/W2067547533","https://openalex.org/W2076398709","https://openalex.org/W2077022939","https://openalex.org/W2087237374","https://openalex.org/W2091583974","https://openalex.org/W2122528013","https://openalex.org/W2129318052","https://openalex.org/W2316037120","https://openalex.org/W2319041008","https://openalex.org/W2320223700","https://openalex.org/W2394661027","https://openalex.org/W2410993362","https://openalex.org/W2413333013"],"related_works":["https://openalex.org/W2005406554","https://openalex.org/W1985159906","https://openalex.org/W3128027359","https://openalex.org/W4205880391","https://openalex.org/W2181304093","https://openalex.org/W2947110255","https://openalex.org/W1999548944","https://openalex.org/W2549174870","https://openalex.org/W2531880302","https://openalex.org/W2083822355"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
