{"id":"https://openalex.org/W1964779078","doi":"https://doi.org/10.1002/ajmg.a.31804","title":"Pelizaeus\u2010Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations","display_name":"Pelizaeus\u2010Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations","publication_year":2007,"publication_date":"2007-06-13","ids":{"openalex":"https://openalex.org/W1964779078","doi":"https://doi.org/10.1002/ajmg.a.31804","mag":"1964779078","pmid":"https://pubmed.ncbi.nlm.nih.gov/17568416"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.31804","doi":"https://doi.org/10.1002/ajmg.a.31804","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.31804","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","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/A5071025323","display_name":"Michael Marble","orcid":"https://orcid.org/0009-0002-2830-7074","observed_orcids":["https://orcid.org/0009-0002-2830-7074"]},"institutions":[{"id":"https://openalex.org/I121820613","display_name":"Louisiana State University","ror":"https://ror.org/05ect4e57","country_code":"US","type":"education","lineage":["https://openalex.org/I121820613"]},{"id":"https://openalex.org/I4210117366","display_name":"Children's Hospital of New Orleans","ror":"https://ror.org/02etexs15","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210117366"]},{"id":"https://openalex.org/I75420490","display_name":"Louisiana State University Health Sciences Center New Orleans","ror":"https://ror.org/01qv8fp92","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121820613","https://openalex.org/I75420490"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michael Marble","raw_affiliation_strings":["Division of Clinical Genetics, Department of Pediatrics, Children's Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA. mmarble1@lsuhsc.edu","Division of Clinical Genetics, Department of Pediatrics, Children's Hospital of New Orleans, Louisiana State University Health Sciences Center, New Orleans, Louisiana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical Genetics, Department of Pediatrics, Children's Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA. mmarble1@lsuhsc.edu","institution_ids":["https://openalex.org/I121820613","https://openalex.org/I4210117366","https://openalex.org/I75420490"]},{"raw_affiliation_string":"Division of Clinical Genetics, Department of Pediatrics, Children's Hospital of New Orleans, Louisiana State University Health Sciences Center, New Orleans, Louisiana","institution_ids":["https://openalex.org/I4210117366","https://openalex.org/I75420490"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109917817","display_name":"Kytja S. Voeller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kytja S. Voeller","raw_affiliation_strings":["JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014262187","display_name":"Melanie M. May","orcid":"https://orcid.org/0000-0003-3910-773X","observed_orcids":["https://orcid.org/0000-0003-3910-773X"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melanie M. May","raw_affiliation_strings":["JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050097716","display_name":"Roger E. Stevenson","orcid":"https://orcid.org/0000-0002-1806-6345","observed_orcids":["https://orcid.org/0000-0002-1806-6345"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Roger E. Stevenson","raw_affiliation_strings":["JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":["JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010154627","display_name":"Richard J. Simensen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard J. Simensen","raw_affiliation_strings":["JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5071025323"],"corresponding_institution_ids":["https://openalex.org/I121820613","https://openalex.org/I4210117366","https://openalex.org/I75420490"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.2621,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.48559642,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"143A","issue":"13","first_page":"1442","last_page":"1447"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9589999914169312,"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":0.9589999914169312,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.013799999840557575,"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/T10137","display_name":"Multiple Sclerosis Research Studies","score":0.009499999694526196,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/pelizaeus-merzbacher-disease","display_name":"Pelizaeus-Merzbacher disease","score":0.9950000047683716},{"id":"https://openalex.org/keywords/female-carriers","display_name":"female carriers","score":0.597000002861023},{"id":"https://openalex.org/keywords/neurocognitive-function","display_name":"neurocognitive function","score":0.8679999709129333},{"id":"https://openalex.org/keywords/plp1","display_name":"PLP1","score":0.9229999780654907},{"id":"https://openalex.org/keywords/gait-disturbance","display_name":"gait disturbance","score":0.609000027179718},{"id":"https://openalex.org/keywords/cognitive-decline","display_name":"cognitive decline","score":0.8209999799728394},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.550000011920929}],"concepts":[{"id":"https://openalex.org/C172467417","wikidata":"https://www.wikidata.org/wiki/Q1670397","display_name":"Neurocognitive","level":3,"score":0.6756865978240967},{"id":"https://openalex.org/C14216870","wikidata":"https://www.wikidata.org/wiki/Q3872","display_name":"Neuropsychology","level":3,"score":0.6095170974731445},{"id":"https://openalex.org/C89798072","wikidata":"https://www.wikidata.org/wiki/Q1141779","display_name":"Wechsler Adult Intelligence Scale","level":3,"score":0.5311602354049683},{"id":"https://openalex.org/C166047926","wikidata":"https://www.wikidata.org/wiki/Q170277","display_name":"Intelligence quotient","level":3,"score":0.49408748745918274},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.45477885007858276},{"id":"https://openalex.org/C7821365","wikidata":"https://www.wikidata.org/wiki/Q14912011","display_name":"Proteolipid protein 1","level":5,"score":0.4304959177970886},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.41383659839630127},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.3811055123806},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3708978295326233},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3499161899089813},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.17722547054290771},{"id":"https://openalex.org/C2778609137","wikidata":"https://www.wikidata.org/wiki/Q105790271","display_name":"Myelin","level":3,"score":0.09443819522857666},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.0},{"id":"https://openalex.org/C2780876595","wikidata":"https://www.wikidata.org/wiki/Q410974","display_name":"Myelin basic protein","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020371","descriptor_name":"Pelizaeus-Merzbacher Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020371","descriptor_name":"Pelizaeus-Merzbacher Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D049951","descriptor_name":"X Chromosome Inactivation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.31804","doi":"https://doi.org/10.1002/ajmg.a.31804","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.31804","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:17568416","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17568416","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":"American journal of medical genetics. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[{"id":"https://openalex.org/G194938417","display_name":null,"funder_award_id":"HD 26202","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G5395371954","display_name":"INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES","funder_award_id":"R24MH057840","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G8961843245","display_name":"X-Linked Mental Retardation-Linkage","funder_award_id":"5r01hd026202-15","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337364","display_name":"National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W113984154","https://openalex.org/W173955245","https://openalex.org/W1532105128","https://openalex.org/W1543272129","https://openalex.org/W1913088950","https://openalex.org/W1978229435","https://openalex.org/W1998369902","https://openalex.org/W2000994598","https://openalex.org/W2005865160","https://openalex.org/W2020789006","https://openalex.org/W2041797025","https://openalex.org/W2047440973","https://openalex.org/W2055937107","https://openalex.org/W2064209070","https://openalex.org/W2067552991","https://openalex.org/W2097857889","https://openalex.org/W2106249797","https://openalex.org/W2121576166","https://openalex.org/W2162723131","https://openalex.org/W3152763411","https://openalex.org/W4301847889"],"related_works":["https://openalex.org/W7099897818","https://openalex.org/W2082792334","https://openalex.org/W2085436982","https://openalex.org/W2041797025","https://openalex.org/W2044456200","https://openalex.org/W1989807509","https://openalex.org/W2531880302","https://openalex.org/W4239048887","https://openalex.org/W1999548944","https://openalex.org/W7099652060"],"abstract_inverted_index":{"A":[0],"Cajun":[1],"kindred":[2],"with":[3],"Pelizaeus-Merzbacher":[4],"disease":[5],"was":[6,63],"found":[7],"to":[8,66],"have":[9],"a":[10],"p.Q128X":[11],"mutation":[12],"in":[13,27,44,72,78,98,112],"exon":[14],"3B":[15],"of":[16,48,59,70,93],"proteolipid":[17],"protein":[18],"1":[19],"(PLP1).":[20],"The":[21,33,50,75,91],"affected":[22],"males":[23,115],"were":[24,83],"globally":[25],"delayed":[26],"development,":[28],"nonambulatory,":[29],"and":[30,40,89,95],"severely":[31],"dysarthric.":[32],"heterozygous":[34],"females":[35,62,82],"developed":[36],"progressive":[37],"gait":[38],"disturbances":[39],"cognitive":[41,96],"deterioration":[42,97],"starting":[43],"the":[45,60,67,79,99,104],"fourth":[46],"decade":[47],"life.":[49],"average":[51,68],"IQ":[52,69],"(Stanford-Binet":[53],"Intelligence":[54],"Scale:":[55],"4th":[56],"Edition":[57],"(SBFE))":[58],"carrier":[61,81,108],"54.2,":[64],"compared":[65],"97.5":[71],"nonaffected":[73],"relatives.":[74],"X-inactivation":[76],"ratios":[77],"three":[80,100],"not":[84],"markedly":[85],"skewed":[86],"(55:45,":[87],"70:30,":[88],"85:15).":[90],"presence":[92],"neurological":[94],"carriers":[101],"deviates":[102],"from":[103],"usual":[105],"expectation":[106],"that":[107],"expression":[109],"only":[110],"occurs":[111],"families":[113],"when":[114],"are":[116],"mildly":[117],"affected.":[118]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}