{"id":"https://openalex.org/W2001288293","doi":"https://doi.org/10.1212/wnl.52.7.1440","title":"Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion","display_name":"Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion","publication_year":1999,"publication_date":"1999-04-01","ids":{"openalex":"https://openalex.org/W2001288293","doi":"https://doi.org/10.1212/wnl.52.7.1440","mag":"2001288293","pmid":"https://pubmed.ncbi.nlm.nih.gov/10227632"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.52.7.1440","doi":"https://doi.org/10.1212/wnl.52.7.1440","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.52.7.1440","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","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/A5036797259","display_name":"Philippe Mouton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P. Mouton","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068904664","display_name":"Sandrine Tardieu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S. Tardieu","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075965534","display_name":"Riadh Gouider","orcid":"https://orcid.org/0000-0001-9615-3797","observed_orcids":["https://orcid.org/0000-0001-9615-3797"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"R. Gouider","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047806774","display_name":"Nazha Birouk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"N. Birouk","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083225834","display_name":"Thierry Maisonobe","orcid":"https://orcid.org/0000-0002-9758-0085","observed_orcids":["https://orcid.org/0000-0002-9758-0085"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"T. Maisonobe","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026034972","display_name":"O. Dubourg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"O. Dubourg","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Brice","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023778362","display_name":"\u00c9ric Leguern","orcid":"https://orcid.org/0000-0003-0013-9646","observed_orcids":["https://orcid.org/0000-0003-0013-9646"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"E. LeGuern","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051659352","display_name":"P. Bouch\u00e9","orcid":"https://orcid.org/0000-0002-4117-4651","observed_orcids":["https://orcid.org/0000-0002-4117-4651"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P. Bouche","raw_affiliation_strings":["From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Service d\u2019Explorations FonctionnellesNeurologie (Drs. Mouton, Gouider, Birouk, Maisonobe, Dubourg, and Bouche) and the INSERM U289 (Drs. LeGuern and Brice, and S. Tardieu), Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.928,"has_fulltext":false,"cited_by_count":187,"citation_normalized_percentile":{"value":0.85511364,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":100},"biblio":{"volume":"52","issue":"7","first_page":"1440","last_page":"1440"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.7886000275611877,"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":0.7886000275611877,"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/T10954","display_name":"Peripheral Nerve Disorders","score":0.20360000431537628,"subfield":{"id":"https://openalex.org/subfields/2741","display_name":"Radiology, Nuclear Medicine and Imaging"},"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/T11735","display_name":"Peripheral Neuropathies and Disorders","score":0.005100000184029341,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/hereditary-neuropathy-with-liability-to-pressure-palsies","display_name":"hereditary neuropathy with liability to pressure palsies","score":0.996999979019165},{"id":"https://openalex.org/keywords/17p11-2-deletion","display_name":"17p11.2 deletion","score":0.9890000224113464},{"id":"https://openalex.org/keywords/phenotypic-heterogeneity","display_name":"phenotypic heterogeneity","score":0.9129999876022339},{"id":"https://openalex.org/keywords/chronic-inflammatory-demyelinating-polyradiculoneuropathy","display_name":"chronic inflammatory demyelinating polyneuropathy","score":0.906000018119812},{"id":"https://openalex.org/keywords/nerve-conduction-slowing","display_name":"nerve conduction slowing","score":0.6859999895095825},{"id":"https://openalex.org/keywords/common-peroneal-nerve","display_name":"peroneal nerve","score":0.9240000247955322},{"id":"https://openalex.org/keywords/nerve-entrapment","display_name":"nerve entrapment","score":0.503000020980835},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6359999775886536}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8360149264335632},{"id":"https://openalex.org/C2779867792","wikidata":"https://www.wikidata.org/wiki/Q1088030","display_name":"Chronic inflammatory demyelinating polyneuropathy","level":3,"score":0.7082434892654419},{"id":"https://openalex.org/C2775892965","wikidata":"https://www.wikidata.org/wiki/Q1502312","display_name":"Polyneuropathy","level":2,"score":0.6887906789779663},{"id":"https://openalex.org/C2911082436","wikidata":"https://www.wikidata.org/wiki/Q945238","display_name":"Mononeuropathy","level":4,"score":0.6442216038703918},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.546116054058075},{"id":"https://openalex.org/C2779658331","wikidata":"https://www.wikidata.org/wiki/Q380117","display_name":"Nerve conduction study","level":3,"score":0.5418328642845154},{"id":"https://openalex.org/C2778970341","wikidata":"https://www.wikidata.org/wiki/Q1397878","display_name":"Fasciculation","level":2,"score":0.5259858965873718},{"id":"https://openalex.org/C2994188736","wikidata":"https://www.wikidata.org/wiki/Q194277","display_name":"Nerve conduction","level":2,"score":0.3514658510684967},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3428102135658264},{"id":"https://openalex.org/C2779901536","wikidata":"https://www.wikidata.org/wiki/Q945238","display_name":"Peripheral neuropathy","level":3,"score":0.27784502506256104},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2457868754863739},{"id":"https://openalex.org/C42219234","wikidata":"https://www.wikidata.org/wiki/Q131130","display_name":"Anesthesia","level":1,"score":0.21910247206687927},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.0},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.0},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.0},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009431","descriptor_name":"Neural Conduction","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D015417","descriptor_name":"Hereditary Sensory and Motor Neuropathy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015417","descriptor_name":"Hereditary Sensory and Motor Neuropathy","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.52.7.1440","doi":"https://doi.org/10.1212/wnl.52.7.1440","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.52.7.1440","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:10227632","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10227632","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":"Neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W20497567","https://openalex.org/W1529011174","https://openalex.org/W1969388410","https://openalex.org/W1974428411","https://openalex.org/W1979526330","https://openalex.org/W1981170675","https://openalex.org/W1986612994","https://openalex.org/W1993835011","https://openalex.org/W2003153146","https://openalex.org/W2004391851","https://openalex.org/W2004450231","https://openalex.org/W2020991835","https://openalex.org/W2021131636","https://openalex.org/W2026537232","https://openalex.org/W2057636907","https://openalex.org/W2058674496","https://openalex.org/W2062916331","https://openalex.org/W2073835802","https://openalex.org/W2084228349","https://openalex.org/W2084634337","https://openalex.org/W2084756226","https://openalex.org/W2100064116","https://openalex.org/W2103246831","https://openalex.org/W2114088351","https://openalex.org/W2131941440","https://openalex.org/W2137277483","https://openalex.org/W2151026099","https://openalex.org/W2162927308","https://openalex.org/W2166600108","https://openalex.org/W2224221622","https://openalex.org/W3021757852","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W2139621572","https://openalex.org/W1979526330","https://openalex.org/W2039271273","https://openalex.org/W2131941440","https://openalex.org/W1983005280","https://openalex.org/W7046904624","https://openalex.org/W2021131636","https://openalex.org/W2349957311","https://openalex.org/W2068036283","https://openalex.org/W6966694351"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"study":[2,68],"the":[3,15,34,56,63,73,89,129,138,141,184,204,224,229],"clinical":[4,59,225,249],"and":[5,60,83,115,123,136,176,199,232],"electrophysiologic":[6,61,147,235],"features":[7],"of":[8,12,14,37,58,69,92,133,150,180,187,197,228],"a":[9,47,66,144,151,168,194,238],"large":[10],"series":[11],"carriers":[13],"17p11.2":[16,20,74,230],"deletion.":[17],"BACKGROUND:":[18],"The":[19,189,221],"deletion":[21,75,130,231],"is":[22,33,193,237],"associated":[23],"in":[24,99,154,171,216,246],"most":[25],"patients":[26,245],"with":[27,40,72,159,207],"recurrent":[28,102,120],"acute":[29],"nerve":[30,165,173,181,201],"palsies,":[31],"which":[32],"typical":[35,90],"presentation":[36,91],"hereditary":[38],"neuropathy":[39,148],"liability":[41],"to":[42,77,88],"pressure":[43],"palsies":[44],"(HNPP).":[45],"Nevertheless,":[46],"few":[48],"other":[49,97],"phenotypes":[50,98],"have":[51],"been":[52],"reported.":[53],"METHODS:":[54],"On":[55],"basis":[57],"data,":[62],"authors":[64,142,222],"conducted":[65],"retrospective":[67],"99":[70],"individuals":[71],"referred":[76],"their":[78,134],"neurogenetic":[79],"department":[80],"between":[81],"1993":[82],"1997.":[84],"RESULTS:":[85],"In":[86,127],"addition":[87],"HNPP,":[93],"they":[94],"describe":[95],"five":[96],"15":[100],"patients:":[101],"positional":[103],"short-term":[104],"sensory":[105,113,172,198],"symptoms,":[106],"progressive":[107],"mononeuropathy,":[108],"Charcot-Marie-Tooth":[109],"disease-like":[110],"polyneuropathy,":[111,114],"chronic":[112,116],"inflammatory":[117],"demyelinating":[118],"polyneuropathy-like,":[119],"subacute":[121],"polyneuropathy;":[122],"14":[124],"asymptomatic":[125],"patients.":[126],"all":[128],"carriers,":[131],"regardless":[132],"phenotype":[135],"by":[137],"second":[139],"decade,":[140],"found":[143],"characteristic,":[145],"multifocal":[146],"consisting":[149],"diffuse":[152,169],"increase":[153],"distal":[155],"motor":[156,164,200,214],"latencies":[157],"contrasting":[158],"normal":[160],"or":[161],"moderately":[162],"reduced":[163],"conduction":[166,182,202,215],"velocities,":[167],"reduction":[170],"action":[174],"potential,":[175],"multiple":[177],"focal":[178],"slowing":[179,196],"at":[183,203,208],"usual":[185],"sites":[186],"entrapment.":[188],"key":[190],"diagnostic":[191],"criterion":[192],"bilateral":[195],"carpal":[205],"tunnel":[206],"least":[209],"one":[210,217],"abnormal":[211],"parameter":[212],"for":[213,241],"peroneal":[218],"nerve.":[219],"CONCLUSION:":[220],"confirm":[223],"phenotypic":[226],"heterogeneity":[227],"suggest":[233],"that":[234],"examination":[236],"reliable":[239],"tool":[240],"screening":[242],"suspected":[243],"HNPP":[244],"its":[247],"various":[248],"presentations.":[250]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":13},{"year":2016,"cited_by_count":12},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":9}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}