{"id":"https://openalex.org/W2013296019","doi":"https://doi.org/10.1002/mus.880100604","title":"Friedreich's ataxia: Electrophysiologic and histologic findings in patients and relatives","display_name":"Friedreich's ataxia: Electrophysiologic and histologic findings in patients and relatives","publication_year":1987,"publication_date":"1987-07-01","ids":{"openalex":"https://openalex.org/W2013296019","doi":"https://doi.org/10.1002/mus.880100604","mag":"2013296019","pmid":"https://pubmed.ncbi.nlm.nih.gov/3627158"},"language":"en","primary_location":{"id":"doi:10.1002/mus.880100604","doi":"https://doi.org/10.1002/mus.880100604","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mus.880100604","pdf_url":null,"source":{"id":"https://openalex.org/S173274907","display_name":"Muscle & Nerve","issn_l":"0148-639X","issn":["0148-639X","1097-4598"],"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-2","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":"Muscle & Nerve","raw_type":"journal-article"},"volume":null,"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":null,"display_name":"G. Caruso","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"G. Caruso","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","Department of Clinical Neurophysiology, 2nd School of Medicine, University of Naples, Naples, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]},{"raw_affiliation_string":"Department of Clinical Neurophysiology, 2nd School of Medicine, University of Naples, Naples, Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061007916","display_name":"Lucio Santoro","orcid":"https://orcid.org/0000-0001-9507-2303","observed_orcids":["https://orcid.org/0000-0001-9507-2303","https://orcid.org/0009-0005-8140-3032"]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L. Santoro","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027221375","display_name":"A. Perretti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Perretti","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079450640","display_name":"Riccardo Massini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R. Massini","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033063098","display_name":"Luciana Pelosi","orcid":"https://orcid.org/0000-0001-6443-6952","observed_orcids":["https://orcid.org/0000-0001-6443-6952"]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L. Pelosi","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043891297","display_name":"Claudio Crisci","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C. Crisci","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113329364","display_name":"M. Ragno","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M. Ragno","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108745294","display_name":"Giuseppe Campanella","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G. Campanella","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022886141","display_name":"Alessandro Filla","orcid":"https://orcid.org/0000-0002-9753-5575","observed_orcids":["https://orcid.org/0000-0002-9753-5575"]},"institutions":[{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Filla","raw_affiliation_strings":["Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and the Neurologic Clinic of the 2nd School of Medicine, University of Naples, and the Fondazione Clinica del Lavoro, Campoli M.T., Italy","institution_ids":["https://openalex.org/I71267560"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I71267560"],"apc_list":{"value":4610,"currency":"USD","value_usd":4610},"apc_paid":null,"fwci":1.1327,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.74396704,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"10","issue":"6","first_page":"503","last_page":"515"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9810000061988831,"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":0.9810000061988831,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.016599999740719795,"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":0.000699999975040555,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/friedreich-ataxia","display_name":"Friedreich's ataxia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/peripheral-nerve-conduction-velocity","display_name":"peripheral nerve conduction velocity","score":0.8450000286102295},{"id":"https://openalex.org/keywords/sural-nerve-biopsy","display_name":"sural nerve biopsy","score":0.8100000023841858},{"id":"https://openalex.org/keywords/myelinated-fiber-loss","display_name":"myelinated fiber loss","score":0.8259999752044678},{"id":"https://openalex.org/keywords/internode-shortening","display_name":"internode shortening","score":0.7369999885559082},{"id":"https://openalex.org/keywords/cerebral-evoked-potentials","display_name":"cortical evoked potentials","score":0.7839999794960022},{"id":"https://openalex.org/keywords/visual-evoked-potentials","display_name":"visual evoked potentials","score":0.8169999718666077},{"id":"https://openalex.org/keywords/somatosensory-evoked-potentials","display_name":"somatosensory evoked potentials","score":0.9279999732971191},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.671999990940094},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.4569999873638153}],"concepts":[{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.8412041664123535},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.571366548538208},{"id":"https://openalex.org/C523008124","wikidata":"https://www.wikidata.org/wiki/Q5357996","display_name":"Electrodiagnosis","level":2,"score":0.492411732673645},{"id":"https://openalex.org/C2910388401","wikidata":"https://www.wikidata.org/wiki/Q356991","display_name":"Electrophysiologic study","level":3,"score":0.4544350504875183},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.42587941884994507},{"id":"https://openalex.org/C2779281540","wikidata":"https://www.wikidata.org/wiki/Q5062122","display_name":"Central nervous system disease","level":2,"score":0.4221298098564148},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4155175983905792},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.4141734838485718},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.35185331106185913},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.26419851183891296},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.15828219056129456},{"id":"https://openalex.org/C2780283014","wikidata":"https://www.wikidata.org/wiki/Q209583","display_name":"Tachycardia","level":2,"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":"D001933","descriptor_name":"Brain Stem","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004576","descriptor_name":"Electromyography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005071","descriptor_name":"Evoked Potentials","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"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":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D009420","descriptor_name":"Nervous System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D009431","descriptor_name":"Neural Conduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009475","descriptor_name":"Neurons, Afferent","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D010525","descriptor_name":"Peripheral Nerves","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/mus.880100604","doi":"https://doi.org/10.1002/mus.880100604","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mus.880100604","pdf_url":null,"source":{"id":"https://openalex.org/S173274907","display_name":"Muscle & Nerve","issn_l":"0148-639X","issn":["0148-639X","1097-4598"],"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-2","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":"Muscle & Nerve","raw_type":"journal-article"},{"id":"pmid:3627158","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3627158","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":"Muscle & nerve","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":47,"referenced_works":["https://openalex.org/W47854034","https://openalex.org/W64365614","https://openalex.org/W74811714","https://openalex.org/W645944404","https://openalex.org/W1538616665","https://openalex.org/W1972716722","https://openalex.org/W1973766365","https://openalex.org/W1995839336","https://openalex.org/W1999581157","https://openalex.org/W2013561166","https://openalex.org/W2018571950","https://openalex.org/W2019139761","https://openalex.org/W2022268780","https://openalex.org/W2023777396","https://openalex.org/W2027092293","https://openalex.org/W2036988309","https://openalex.org/W2040221935","https://openalex.org/W2042660779","https://openalex.org/W2056274377","https://openalex.org/W2058008175","https://openalex.org/W2060174808","https://openalex.org/W2062418525","https://openalex.org/W2065419651","https://openalex.org/W2102966230","https://openalex.org/W2103246831","https://openalex.org/W2116755203","https://openalex.org/W2138092140","https://openalex.org/W2163905230","https://openalex.org/W2176411642","https://openalex.org/W2211955085","https://openalex.org/W2270722324","https://openalex.org/W2331174861","https://openalex.org/W2395463470","https://openalex.org/W2398231176","https://openalex.org/W2398878750","https://openalex.org/W2403537437","https://openalex.org/W2409684237","https://openalex.org/W2415180973","https://openalex.org/W2415418869","https://openalex.org/W2416730083","https://openalex.org/W2417846482","https://openalex.org/W2419281911","https://openalex.org/W2422109518","https://openalex.org/W2429071404","https://openalex.org/W2619093219","https://openalex.org/W2623683009","https://openalex.org/W4230969148"],"related_works":["https://openalex.org/W2058008175","https://openalex.org/W2091321126","https://openalex.org/W2013561166","https://openalex.org/W1538616665","https://openalex.org/W2023404316","https://openalex.org/W2419350843","https://openalex.org/W1541288615","https://openalex.org/W2066388058","https://openalex.org/W2138092140","https://openalex.org/W2313427236"],"abstract_inverted_index":{"Peripheral":[0],"nerve":[1,30,62],"conduction":[2,36,77,122],"velocity":[3,37,123],"and":[4,16,24,57,82,92],"cortical":[5],"evoked":[6],"potentials":[7],"were":[8,21,44,90,95,98,109,153,163],"investigated":[9],"in":[10,17,129,150],"48":[11],"patients":[12,23,34,86],"with":[13],"Friedreich's":[14,117],"disease":[15],"35":[18],"relatives.":[19,135],"There":[20,108],"14":[22,110],"2":[25],"relatives":[26,111],"who":[27,112],"underwent":[28],"sural":[29],"biopsy.":[31],"In":[32,85,140],"the":[33,101,134,147,151,167],"sensory":[35,42,76,125],"was":[38,73,127,138],"moderately":[39],"slowed,":[40],"whereas":[41],"responses":[43],"markedly":[45],"reduced.":[46],"Nerve":[47,136],"biopsy":[48,137],"showed":[49,113],"a":[50,157],"severe":[51],"loss":[52],"of":[53,105,116,133,156,166],"large":[54],"myelinated":[55],"fibers":[56,66,126],"no":[58],"demyelination.":[59],"On":[60],"teased":[61],"fiber":[63],"preparations,":[64],"most":[65],"presented":[67],"uniformly":[68],"short":[69],"internodes.":[70],"No":[71],"correlation":[72],"seen":[74],"between":[75],"findings":[78],"or":[79,103,160],"histologic":[80],"abnormalities":[81,148],"clinical":[83,106,114],"disability.":[84,107],"SSEP":[87],"changes,":[88],"which":[89,94],"constant,":[91],"VEPs,":[93],"frequently":[96],"involved,":[97],"unrelated":[99],"to":[100],"severity":[102],"duration":[104],"signs":[115,165],"disease.":[118,168],"Slightly":[119],"decreased":[120],"distal":[121],"along":[124],"observed":[128,149],"more":[130],"than":[131],"half":[132],"noncontributory.":[139],"conclusion,":[141],"we":[142],"could":[143],"not":[144],"determine":[145],"whether":[146,161],"siblings":[152],"an":[154],"expression":[155],"heterozygotic":[158],"condition,":[159],"they":[162],"early":[164]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}