{"id":"https://openalex.org/W32790084","doi":null,"title":"Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results.","display_name":"Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results.","publication_year":2003,"publication_date":"2003-05-01","ids":{"openalex":"https://openalex.org/W32790084","mag":"32790084","pmid":"https://pubmed.ncbi.nlm.nih.gov/12966700"},"language":"en","primary_location":{"id":"pmid:12966700","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12966700","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":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","raw_type":"Clinical Trial"},"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/A5085604734","display_name":"Luisa Politano","orcid":"https://orcid.org/0000-0002-0925-7158","observed_orcids":["https://orcid.org/0000-0002-0925-7158"]},"institutions":[{"id":"https://openalex.org/I197809005","display_name":"University of Campania \"Luigi Vanvitelli\"","ror":"https://ror.org/02kqnpp86","country_code":"IT","type":"education","lineage":["https://openalex.org/I197809005"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L Politano","raw_affiliation_strings":["Department of Clinical and Experimental Medicine and Surgery, Section of Cardiomyology and Medical Genetics, 2nd University of Naples, Italy. luisa.politano@unina2.it"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical and Experimental Medicine and Surgery, Section of Cardiomyology and Medical Genetics, 2nd University of Naples, Italy. luisa.politano@unina2.it","institution_ids":["https://openalex.org/I197809005"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105458785","display_name":"Gerardo Nigro","orcid":"https://orcid.org/0000-0003-1776-8449","observed_orcids":["https://orcid.org/0000-0003-1776-8449"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Nigro","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035928391","display_name":"Vincenzo Nigro","orcid":"https://orcid.org/0000-0002-3378-5006","observed_orcids":["https://orcid.org/0000-0002-3378-5006"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V Nigro","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063302487","display_name":"Giulio Piluso","orcid":"https://orcid.org/0000-0001-9418-125X","observed_orcids":["https://orcid.org/0000-0001-9418-125X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Piluso","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006881710","display_name":"S Papparella","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Papparella","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001650292","display_name":"Orlando Paciello","orcid":"https://orcid.org/0000-0003-3091-0905","observed_orcids":["https://orcid.org/0000-0003-3091-0905"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"O Paciello","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5112173724","display_name":"L.I. Comi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L I Comi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.2628,"has_fulltext":false,"cited_by_count":174,"citation_normalized_percentile":{"value":0.88023505,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":100},"biblio":{"volume":"22","issue":"1","first_page":"15","last_page":"21"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.0017999999690800905,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","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"}}],"keywords":[{"id":"https://openalex.org/keywords/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9769999980926514},{"id":"https://openalex.org/keywords/gentamicin","display_name":"gentamicin","score":0.9779999852180481},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.871999979019165},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.9819999933242798},{"id":"https://openalex.org/keywords/dystrophin-expression","display_name":"dystrophin expression","score":0.9559999704360962},{"id":"https://openalex.org/keywords/skeletal-muscle","display_name":"skeletal muscle","score":0.5289999842643738},{"id":"https://openalex.org/keywords/mdx-mice","display_name":"mdx mice","score":0.6060000061988831},{"id":"https://openalex.org/keywords/nephrotoxicity","display_name":"nephrotoxicity","score":0.7680000066757202},{"id":"https://openalex.org/keywords/ototoxicity","display_name":"ototoxicity","score":0.9700000286102295},{"id":"https://openalex.org/keywords/rod-domain","display_name":"rod domain","score":0.47200000286102295}],"concepts":[{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.8924394845962524},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.8804137706756592},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7048139572143555},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.5451582670211792},{"id":"https://openalex.org/C2778750056","wikidata":"https://www.wikidata.org/wiki/Q24976962","display_name":"mdx mouse","level":4,"score":0.5146954655647278},{"id":"https://openalex.org/C36880943","wikidata":"https://www.wikidata.org/wiki/Q409458","display_name":"Creatine kinase","level":2,"score":0.5069506168365479},{"id":"https://openalex.org/C2775832221","wikidata":"https://www.wikidata.org/wiki/Q422482","display_name":"Gentamicin","level":3,"score":0.4869450330734253},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.47358471155166626},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.4691901206970215},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.44691428542137146},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3878454267978668},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.3295634388923645},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.23405852913856506},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1762956976890564},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.14666861295700073},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.12085425853729248},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C501593827","wikidata":"https://www.wikidata.org/wiki/Q12187","display_name":"Antibiotics","level":2,"score":0.0},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000900","descriptor_name":"Anti-Bacterial Agents","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D000900","descriptor_name":"Anti-Bacterial Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004334","descriptor_name":"Drug Administration Schedule","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005839","descriptor_name":"Gentamicins","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D005839","descriptor_name":"Gentamicins","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","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":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016189","descriptor_name":"Dystrophin","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D016189","descriptor_name":"Dystrophin","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":true},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D020388","descriptor_name":"Muscular Dystrophy, Duchenne","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D020388","descriptor_name":"Muscular Dystrophy, Duchenne","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020388","descriptor_name":"Muscular Dystrophy, Duchenne","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:12966700","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12966700","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":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","raw_type":"Clinical Trial"},{"id":"pmh:oai:iris.unicampania.it:11591/202135","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11591/202135","pdf_url":null,"source":{"id":"https://openalex.org/S7407055255","display_name":"Archivio Istituzionale della Ricerca - Universit\u00e0 degli Studi della Campania \"Luigi Vanvitelli\"","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"mag:32790084","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12966700","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":1.0,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W1971656081","https://openalex.org/W1978606468","https://openalex.org/W1982565465","https://openalex.org/W2006305684","https://openalex.org/W2009978870","https://openalex.org/W2018483923","https://openalex.org/W2020090373","https://openalex.org/W2034300019","https://openalex.org/W2036076265","https://openalex.org/W2037234421","https://openalex.org/W2053699586","https://openalex.org/W2063870808","https://openalex.org/W2089194066","https://openalex.org/W2103014266","https://openalex.org/W2110537381","https://openalex.org/W2114649592","https://openalex.org/W2129396372","https://openalex.org/W2147875382","https://openalex.org/W2150013912","https://openalex.org/W2296596833","https://openalex.org/W2321253768","https://openalex.org/W2322097380","https://openalex.org/W2332162456","https://openalex.org/W2732622049","https://openalex.org/W2765813484","https://openalex.org/W2964833161"],"related_works":["https://openalex.org/W2077508813","https://openalex.org/W2160400422","https://openalex.org/W1982677630","https://openalex.org/W2018631768","https://openalex.org/W2050055748","https://openalex.org/W2099502558","https://openalex.org/W2158494985","https://openalex.org/W2141057730","https://openalex.org/W1988889799","https://openalex.org/W2106252390"],"abstract_inverted_index":{"Aim":[0],"of":[1,10,19,64,70,82,86,97,126,153,176,212,230,239],"the":[2,8,75,79,83,94,99,122,158,193,196,201,237,240],"study":[3],"was":[4,91,132,172],"to":[5,74,195,223],"investigate":[6],"whether":[7],"administration":[9],"gentamicin":[11,65,220],"could":[12],"restore":[13],"dystrophin":[14,177,187,213,225],"expression":[15,211,226],"in":[16,32,41,56,184,227],"striated":[17],"muscles":[18],"patients":[20,232],"with":[21,52,199,204,233],"Duchenne":[22,36,231],"muscular":[23,245],"dystrophy":[24],"caused":[25],"by":[26,78,103,114,134,178,192],"premature":[27,57],"stop":[28,58,163,207],"codon,":[29,164,208],"as":[30,144,162,206],"reported":[31],"mdx":[33],"mice.":[34],"Four":[35],"patients,":[37,155,186],"still":[38],"ambulant":[39],"or":[40],"wheelchair":[42],"stage":[43],"for":[44,244],"less":[45],"than":[46],"4":[47],"months,":[48],"selected":[49],"among":[50],"those":[51],"point":[53],"mutations":[54],"resulting":[55],"codons,":[59],"received":[60],"two":[61,185],"6-day":[62],"cycles":[63],"sulfate,":[66],"at":[67,121,214],"an":[68],"interval":[69],"7":[71],"weeks,":[72],"according":[73],"protocol":[76],"approved":[77],"Ethics":[80],"Committee":[81],"Second":[84],"University":[85],"Naples.":[87],"A":[88],"muscle":[89,110],"biopsy":[90],"performed":[92],"after":[93],"second":[95],"cycle":[96],"administration;":[98],"specimens":[100],"were":[101,112,148,190],"analysed":[102],"both":[104,179],"immuno-histochemistry":[105,180],"and":[106,117,124,129,139,146,181],"Western":[107,182],"blotting.":[108],"Skeletal":[109],"changes":[111],"monitored":[113],"dynamic":[115],"tests":[116],"Creatine":[118],"Kinase":[119],"values;":[120],"beginning":[123],"end":[125],"treatment,":[127],"cardiac":[128],"respiratory":[130],"status":[131],"evaluated":[133],"electrocardiography,":[135],"echocardiography,":[136],"acoustic":[137],"densitometry":[138],"vital":[140],"capacity.":[141],"Side-effects":[142],"such":[143],"nephrotoxicity":[145],"ototoxicity":[147],"also":[149],"monitored.":[150],"Three":[151],"out":[152],"four":[154],"who":[156],"had":[157],"most":[159],"permissive":[160],"UGA":[161],"showed":[165,209],"positive":[166,188],"results.":[167],"In":[168],"one":[169],"patient,":[170,203],"there":[171],"a":[173,228],"dramatic":[174],"re-expression":[175],"blot;":[183],"fibres":[189],"seen":[191],"antibody":[194],"rod":[197],"domain":[198],"immuno-histochemistry;":[200],"fourth":[202],"UAA":[205],"no":[210],"all.":[215],"These":[216],"results":[217],"suggest":[218],"that":[219],"is":[221],"able":[222],"recover":[224],"subset":[229],"nonsense":[234],"mutations,":[235],"raising":[236],"possibility":[238],"first":[241],"pharmacological":[242],"treatment":[243],"dystrophy.":[246]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":13},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":15}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}
