{"id":"https://openalex.org/W2187063149","doi":null,"title":"n Associated with Neuropathy with LiaMity to P","display_name":"n Associated with Neuropathy with LiaMity to P","publication_year":1993,"publication_date":"1993-01-01","ids":{"openalex":"https://openalex.org/W2187063149","mag":"2187063149"},"language":"en","primary_location":{"id":"mag:2187063149","doi":null,"is_oa":false,"landing_page_url":"https://eurekamag.com/pdf.php?pdf=008415974","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5005240191","display_name":"Kathleen A. Leppig","orcid":"https://orcid.org/0000-0002-8678-6221","observed_orcids":["https://orcid.org/0000-0002-8678-6221"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kathleen A. Leppig","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-8678-6221","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053649151","display_name":"M. William Lensch","orcid":"https://orcid.org/0000-0002-1567-4089","observed_orcids":["https://orcid.org/0000-0002-1567-4089"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"William Lensch","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063844051","display_name":"Norisada Matsunami","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Norisada Matsunami","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040973635","display_name":"Phillip D. Swansoq","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Phillip D. Swansoq","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024714084","display_name":"Shannon J. Odelberg","orcid":"https://orcid.org/0000-0001-5935-0468","observed_orcids":["https://orcid.org/0000-0001-5935-0468"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shannon J. Odelberg","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-5935-0468","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067240879","display_name":"Christine M. Dist\u00e8che","orcid":"https://orcid.org/0000-0002-5433-495X","observed_orcids":["https://orcid.org/0000-0002-5433-495X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christine M. Dist\u00e8che","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5112371406","display_name":"Thomas D. Bird","orcid":"https://orcid.org/0000-0001-9598-3529","observed_orcids":["https://orcid.org/0000-0001-9598-3529"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Thomas D. Bird","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9598-3529","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9994999766349792,"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":0.9994999766349792,"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/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-neuropathy-with-liability-to-pressure-palsies","display_name":"hereditary neuropathy with liability to pressure palsies","score":0.996999979019165},{"id":"https://openalex.org/keywords/chromosome-17q11-2","display_name":"chromosome 17q11.2","score":0.9240000247955322},{"id":"https://openalex.org/keywords/interstitial-deletion","display_name":"interstitial deletion","score":0.9470000267028809},{"id":"https://openalex.org/keywords/de-novo-deletion","display_name":"de novo deletion","score":0.8379999995231628},{"id":"https://openalex.org/keywords/peripheral-myelin-protein-22","display_name":"peripheral myelin protein 22","score":0.9549999833106995},{"id":"https://openalex.org/keywords/pmp22","display_name":"PMP22","score":0.7860000133514404},{"id":"https://openalex.org/keywords/charcot-marie-tooth-disease-type-1a","display_name":"Charcot-Marie-Tooth disease type 1A","score":0.8899999856948853},{"id":"https://openalex.org/keywords/unequal-crossing-over","display_name":"unequal crossover","score":0.7739999890327454},{"id":"https://openalex.org/keywords/demyelinating-neuropathy","display_name":"demyelinating neuropathy","score":0.8759999871253967},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7580000162124634}],"concepts":[{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7064521312713623},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.6443914175033569},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6181208491325378},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.5988870859146118},{"id":"https://openalex.org/C2779901536","wikidata":"https://www.wikidata.org/wiki/Q945238","display_name":"Peripheral neuropathy","level":3,"score":0.5565328001976013},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5027263164520264},{"id":"https://openalex.org/C2778609137","wikidata":"https://www.wikidata.org/wiki/Q105790271","display_name":"Myelin","level":3,"score":0.48725953698158264},{"id":"https://openalex.org/C2781006897","wikidata":"https://www.wikidata.org/wiki/Q18030619","display_name":"Peripheral myelin protein 22","level":4,"score":0.43905365467071533},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37416455149650574},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3326922655105591},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1975063979625702},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.12675157189369202},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.11130467057228088},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2187063149","doi":null,"is_oa":false,"landing_page_url":"https://eurekamag.com/pdf.php?pdf=008415974","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W1491787470","https://openalex.org/W1501705446","https://openalex.org/W1856001636","https://openalex.org/W1883795482","https://openalex.org/W1970837473","https://openalex.org/W1970916590","https://openalex.org/W1981170675","https://openalex.org/W1991973434","https://openalex.org/W1998342167","https://openalex.org/W2006073408","https://openalex.org/W2009739954","https://openalex.org/W2014669590","https://openalex.org/W2025859952","https://openalex.org/W2027794853","https://openalex.org/W2028954557","https://openalex.org/W2038151125","https://openalex.org/W2040975368","https://openalex.org/W2057636907","https://openalex.org/W2060414719","https://openalex.org/W2060741608","https://openalex.org/W2069644796","https://openalex.org/W2103246831","https://openalex.org/W2103256993","https://openalex.org/W2122043601","https://openalex.org/W2123209358","https://openalex.org/W2131291771","https://openalex.org/W2135345390","https://openalex.org/W2138616826","https://openalex.org/W2146046684","https://openalex.org/W2151531231","https://openalex.org/W2169412991","https://openalex.org/W2289260697","https://openalex.org/W2317230108","https://openalex.org/W2317701553","https://openalex.org/W3021757852"],"related_works":["https://openalex.org/W2026537232","https://openalex.org/W1592299116","https://openalex.org/W1975066383","https://openalex.org/W2021830135","https://openalex.org/W2033174253","https://openalex.org/W2413295115","https://openalex.org/W2062916331","https://openalex.org/W7096133620","https://openalex.org/W1973474923","https://openalex.org/W2017483470"],"abstract_inverted_index":{"Summary":[0],"Hereditary":[1],"neuropathy":[2,20,110],"with":[3,45],"liability":[4],"to":[5,24,32,105,126],"pressure":[6],"palsies":[7],"(HNPP)":[8],"is":[9,55],"an":[10],"autosomal":[11],"dominant":[12],"disorder":[13,47],"that":[14,82,102,133],"causes":[15],"episodes":[16],"of":[17,39,84,141,144],"focal":[18],"demyelinating":[19],"following":[21],"minor":[22],"trauma":[23],"peripheral":[25,75],"nerves.":[26],"We":[27],"assign":[28],"the":[29,37,72,108,117,127,139],"HNPP":[30,92,121],"locus":[31],"chromosome":[33],"17~11.2":[34],"and":[35,69,98,122],"demonstrate":[36],"presence":[38],"a":[40],"large":[41],"interstitial":[42],"deletion":[43,54,90],"associated":[44],"this":[46],"in":[48,57,66,91,120,130],"three":[49],"unrelated":[50],"pedigrees.":[51],"De":[52],"novo":[53],"documented":[56],"one":[58],"pedigree.":[59],"The":[60,89],"de-":[61],"leted":[62],"region":[63],"appears":[64],"uniform":[65],"all":[67,100],"pedigrees":[68],"in-":[70],"cludes":[71],"gene":[73],"for":[74],"myelin":[76],"protein":[77],"22":[78],"(PMP-":[79],"22j,":[80],"suggesting":[81,132],"underexpression":[83],"PMP-22":[85],"may":[86,137],"cause":[87],"HNPP.":[88],"spans":[93],"approxi-":[94],"mately":[95],"1.5":[96],"Mb":[97],"includes":[99],"markers":[101],"are":[103],"known":[104],"map":[106,125],"within":[107],"Charcot-Marie-Tooth":[109],"type":[111],"1A":[112],"(CMTl":[113],"A)":[114],"duplication.":[115],"Furthermore,":[116],"break-":[118],"points":[119],"CMTl":[123],"A":[124],"same":[128],"intervals":[129],"17~11.2,":[131],"these":[134],"genetic":[135],"disorders":[136],"be":[138],"result":[140],"reciprocal":[142],"products":[143],"unequal":[145],"crossover.":[146]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
