{"id":"https://openalex.org/W1896669437","doi":null,"title":"Sorting out the inherited neuropathies.","display_name":"Sorting out the inherited neuropathies.","publication_year":2007,"publication_date":"2007-04-01","ids":{"openalex":"https://openalex.org/W1896669437","mag":"1896669437","pmid":"https://pubmed.ncbi.nlm.nih.gov/17430873"},"language":"en","primary_location":{"id":"pmid:17430873","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17430873","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":"Practical neurology","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5021057974","display_name":"Mary M. Reilly","orcid":"https://orcid.org/0000-0003-0686-905X","observed_orcids":["https://orcid.org/0000-0003-0686-905X","https://orcid.org/0000-0001-7528-3082"]},"institutions":[{"id":"https://openalex.org/I4210151618","display_name":"National Hospital for Neurology and Neurosurgery","ror":"https://ror.org/048b34d51","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713","https://openalex.org/I4210151618"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Mary M Reilly","raw_affiliation_strings":["Centre for Neuromuscular Disease and Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK. m.reilly@ion.ucl.ac.uk"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Neuromuscular Disease and Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK. m.reilly@ion.ucl.ac.uk","institution_ids":["https://openalex.org/I4210151618","https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5021057974"],"corresponding_institution_ids":["https://openalex.org/I4210151618","https://openalex.org/I4405260083","https://openalex.org/I45129253"],"apc_list":null,"apc_paid":null,"fwci":3.1853,"has_fulltext":false,"cited_by_count":71,"citation_normalized_percentile":{"value":0.92072518,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":99},"biblio":{"volume":"7","issue":"2","first_page":"93","last_page":"105"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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":1.0,"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/T11735","display_name":"Peripheral Neuropathies and Disorders","score":0.0,"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/T11752","display_name":"Cancer Treatment and Pharmacology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/inherited-neuropathy","display_name":"inherited neuropathy","score":0.8550000190734863},{"id":"https://openalex.org/keywords/charcot-marie-tooth-disease","display_name":"Charcot-Marie-Tooth disease","score":1.0},{"id":"https://openalex.org/keywords/hereditary-sensory-and-autonomic-neuropathy","display_name":"hereditary sensory and autonomic neuropathy","score":0.953000009059906},{"id":"https://openalex.org/keywords/axonal-charcot-marie-tooth-disease","display_name":"axonal Charcot-Marie-Tooth disease","score":0.7960000038146973},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7350000143051147},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.6050000190734863},{"id":"https://openalex.org/keywords/diagnostic-classification","display_name":"diagnostic classification","score":0.47999998927116394},{"id":"https://openalex.org/keywords/distal-muscle-weakness","display_name":"distal muscle weakness","score":0.6399999856948853},{"id":"https://openalex.org/keywords/foot-deformity","display_name":"foot deformity","score":0.6970000267028809}],"concepts":[{"id":"https://openalex.org/C2777938335","wikidata":"https://www.wikidata.org/wiki/Q15270307","display_name":"Hereditary motor and sensory neuropathy","level":3,"score":0.7437505722045898},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6814597845077515},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5948202013969421},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.5248722434043884},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.27287715673446655},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.267897367477417},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18655502796173096},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14206385612487793},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11654594540596008}],"mesh":[{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009477","descriptor_name":"Hereditary Sensory and Autonomic Neuropathies","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D009477","descriptor_name":"Hereditary Sensory and Autonomic Neuropathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009477","descriptor_name":"Hereditary Sensory and Autonomic Neuropathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015417","descriptor_name":"Hereditary Sensory and Motor Neuropathy","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D015417","descriptor_name":"Hereditary Sensory and Motor Neuropathy","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D015417","descriptor_name":"Hereditary Sensory and Motor Neuropathy","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:17430873","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17430873","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":"Practical neurology","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:166310","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/166310/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Pract Neurol , 7 (2) pp. 93-105. (2007)","raw_type":"Article"},{"id":"mag:1896669437","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17430873","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1529011174","https://openalex.org/W1964835671","https://openalex.org/W1982617892","https://openalex.org/W1999882780","https://openalex.org/W2004850699","https://openalex.org/W2024805055","https://openalex.org/W2032205082","https://openalex.org/W2040724884","https://openalex.org/W2046452940","https://openalex.org/W2048149308","https://openalex.org/W2056241193","https://openalex.org/W2101011676","https://openalex.org/W2102400397","https://openalex.org/W2108247718","https://openalex.org/W2116023338","https://openalex.org/W2116524329","https://openalex.org/W2123747766","https://openalex.org/W2127271204","https://openalex.org/W2127839763","https://openalex.org/W2133129464","https://openalex.org/W2163579506"],"related_works":["https://openalex.org/W2010816269","https://openalex.org/W2065495697","https://openalex.org/W4210747607","https://openalex.org/W2138646511","https://openalex.org/W2227237519","https://openalex.org/W3139127906","https://openalex.org/W1552173956","https://openalex.org/W2339024377","https://openalex.org/W3005181578","https://openalex.org/W2241989806"],"abstract_inverted_index":{"The":[0],"inherited":[1,78,96],"neuropathies":[2],"are":[3,116,211],"a":[4,33,58,66,85,89,167,174,186],"large":[5,187],"heterogeneous":[6,93],"group":[7,94],"which":[8],"can":[9,242,252],"be":[10,107,243],"divided":[11],"into":[12],"those":[13,27],"where":[14,28],"the":[15,18,24,47,62,77,142,178,190,239,249],"neuropathy":[16,137],"is":[17,30,81,128,141,145,173],"sole":[19],"or":[20,37],"primary":[21],"part":[22,31],"of":[23,32,76,95,103,123,180,207,236],"disease,":[25],"and":[26,54,91,135,152,160,164,169,182,209,225,248],"it":[29],"more":[34,261],"widespread":[35],"neurological":[36],"multisystem":[38],"disorder":[39],"(table":[40],"1).":[41],"Here":[42],"I":[43],"will":[44,105],"concentrate":[45],"on":[46,61,189],"former":[48],"group,":[49],"especially":[50],"Charcot-Marie-Tooth":[51],"(CMT)":[52],"disease":[53,80,87],"related":[55],"disorders,":[56],"with":[57,119],"particular":[59],"emphasis":[60],"diagnostic":[63],"approach":[64],"from":[65],"practising":[67],"clinician\u2019s":[68],"perspective.\n\nView":[69],"this":[70,113],"table:\n\n":[71],"Table":[72],"1":[73,124],"\nClassification":[75],"neuropathies\n\n\n\nCharcot-Marie-Tooth":[79],"not":[82],"so":[83],"much":[84],"single":[86],"as":[88,110,132],"clinically":[90,147,216],"genetically":[92],"neuropathies,":[97],"but":[98,139],"for":[99,230],"simplicity":[100],"all":[101],"types":[102],"CMT":[104,111,127,140,208,232],"just":[106],"referred":[108,130],"to":[109,131,185,214],"throughout":[112],"review.":[114],"They":[115],"relatively":[117],"common":[118],"an":[120],"overall":[121],"prevalence":[122],"in":[125,177,222],"2500.1":[126],"also":[129,233],"hereditary":[133],"motor":[134,168],"sensory":[136,170],"(HMSN)":[138],"preferred":[143],"term.\n\nCMT":[144],"characterised":[146],"by":[148,166,220,245],"distal":[149,158],"muscle":[150],"wasting":[151],"weakness,":[153],"reduced":[154],"tendon":[155],"reflexes,":[156],"impaired":[157],"sensation":[159],"variable":[161],"foot":[162],"deformity,":[163],"neurophysiologically":[165],"neuropathy.":[171],"There":[172],"wide":[175],"variation":[176],"age":[179],"onset":[181],"severity,":[183],"depending":[184],"extent":[188],"underlying":[191],"genetic":[192,200],"defect.":[193],"Traditional":[194],"clinical":[195],"classifications":[196],"differentiate":[197],"between:\n\n\n\n\n\nHowever,":[198],"recent":[199],"findings":[201],"have":[202,258],"shown":[203],"that":[204],"certain":[205,226],"forms":[206,235],"HSAN":[210],"very":[212],"difficult":[213],"distinguish":[215],"despite":[217],"being":[218],"caused":[219,244],"mutations":[221],"different":[223,246,254],"genes,":[224,247],"recently":[227],"described":[228,266],"genes":[229,265],"axonal":[231],"cause":[234,253],"dHMN\u2014that":[237],"is,":[238],"same":[240,250],"phenotype":[241],"gene":[251],"phenotypes.":[255],"As":[256],"there":[257],"now":[259],"been":[260],"than":[262],"30":[263],"causative":[264],"\u2026":[267]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}