{"id":"https://openalex.org/W3137988967","doi":"https://doi.org/10.3390/jcm10061249","title":"Mitochondrial Syndromes Revisited","display_name":"Mitochondrial Syndromes Revisited","publication_year":2021,"publication_date":"2021-03-17","ids":{"openalex":"https://openalex.org/W3137988967","doi":"https://doi.org/10.3390/jcm10061249","mag":"3137988967","pmid":"https://pubmed.ncbi.nlm.nih.gov/33802970","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8002645"},"language":"en","primary_location":{"id":"doi:10.3390/jcm10061249","doi":"https://doi.org/10.3390/jcm10061249","is_oa":true,"landing_page_url":"https://doi.org/10.3390/jcm10061249","pdf_url":"https://www.mdpi.com/2077-0383/10/6/1249/pdf?version=1615992304","source":{"id":"https://openalex.org/S2737969411","display_name":"Journal of Clinical Medicine","issn_l":"2077-0383","issn":["2077-0383"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Medicine","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2077-0383/10/6/1249/pdf?version=1615992304","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014753060","display_name":"Daniele Orsucci","orcid":"https://orcid.org/0000-0003-4847-7812","observed_orcids":["https://orcid.org/0000-0003-4847-7812"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Daniele Orsucci","raw_affiliation_strings":["Unit of Neurology, San Luca Hospital, 55100 Lucca, Italy"],"raw_orcid":"https://orcid.org/0000-0003-4847-7812","affiliations":[{"raw_affiliation_string":"Unit of Neurology, San Luca Hospital, 55100 Lucca, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087678564","display_name":"Elena Caldarazzo Ienco","orcid":"https://orcid.org/0000-0003-0134-5062","observed_orcids":["https://orcid.org/0000-0003-0134-5062"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elena Caldarazzo Ienco","raw_affiliation_strings":["Unit of Neurology, San Luca Hospital, 55100 Lucca, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Neurology, San Luca Hospital, 55100 Lucca, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Andrea Rossi","orcid":"https://orcid.org/0000-0003-4019-4412","observed_orcids":["https://orcid.org/0000-0003-4019-4412"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andrea Rossi","raw_affiliation_strings":["Medical Affairs and Scientific Communications, 1260 Nyon, Switzerland"],"raw_orcid":"https://orcid.org/0000-0003-4019-4412","affiliations":[{"raw_affiliation_string":"Medical Affairs and Scientific Communications, 1260 Nyon, Switzerland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010611941","display_name":"Gabriele Siciliano","orcid":"https://orcid.org/0000-0002-6142-2384","observed_orcids":["https://orcid.org/0000-0002-6142-2384"]},"institutions":[{"id":"https://openalex.org/I108290504","display_name":"University of Pisa","ror":"https://ror.org/03ad39j10","country_code":"IT","type":"education","lineage":["https://openalex.org/I108290504"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Gabriele Siciliano","raw_affiliation_strings":["Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy","institution_ids":["https://openalex.org/I108290504"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5055048928","display_name":"Michelangelo Mancuso","orcid":"https://orcid.org/0000-0003-2738-8562","observed_orcids":["https://orcid.org/0000-0003-2738-8562"]},"institutions":[{"id":"https://openalex.org/I108290504","display_name":"University of Pisa","ror":"https://ror.org/03ad39j10","country_code":"IT","type":"education","lineage":["https://openalex.org/I108290504"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Michelangelo Mancuso","raw_affiliation_strings":["Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy","institution_ids":["https://openalex.org/I108290504"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5014753060"],"corresponding_institution_ids":[],"apc_list":{"value":2200,"currency":"CHF","value_usd":2376},"apc_paid":{"value":2200,"currency":"CHF","value_usd":2376},"fwci":1.0706,"has_fulltext":true,"cited_by_count":60,"citation_normalized_percentile":{"value":0.7428,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"10","issue":"6","first_page":"1249","last_page":"1249"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9550999999046326,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9550999999046326,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.03849999979138374,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.002300000051036477,"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/mitochondrial-disease","display_name":"mitochondrial disease","score":0.8650000095367432},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9409999847412109},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.9449999928474426},{"id":"https://openalex.org/keywords/phenotype-definition","display_name":"phenotype definition","score":0.6209999918937683},{"id":"https://openalex.org/keywords/patient-classification","display_name":"patient classification","score":0.7580000162124634},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.7120000123977661},{"id":"https://openalex.org/keywords/clinical-trials","display_name":"clinical trials","score":0.49799999594688416}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9773491621017456}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.3390/jcm10061249","doi":"https://doi.org/10.3390/jcm10061249","is_oa":true,"landing_page_url":"https://doi.org/10.3390/jcm10061249","pdf_url":"https://www.mdpi.com/2077-0383/10/6/1249/pdf?version=1615992304","source":{"id":"https://openalex.org/S2737969411","display_name":"Journal of Clinical Medicine","issn_l":"2077-0383","issn":["2077-0383"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Medicine","raw_type":"journal-article"},{"id":"pmid:33802970","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33802970","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":"Journal of clinical medicine","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8002645","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8002645/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Clin Med","raw_type":"Text"},{"id":"pmh:oai:arpi.unipi.it:11568/1094606","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11568/1094606","pdf_url":null,"source":{"id":"https://openalex.org/S4377196265","display_name":"CINECA IRIS Institutial research information system (University of Pisa)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I108290504","host_organization_name":"University of Pisa","host_organization_lineage":["https://openalex.org/I108290504"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:95e7b9b5fc1548c1b3bacf276a0e4435","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/95e7b9b5fc1548c1b3bacf276a0e4435","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Clinical Medicine, Vol 10, Iss 1249, p 1249 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/jcm10061249","doi":"https://doi.org/10.3390/jcm10061249","is_oa":true,"landing_page_url":"https://doi.org/10.3390/jcm10061249","pdf_url":"https://www.mdpi.com/2077-0383/10/6/1249/pdf?version=1615992304","source":{"id":"https://openalex.org/S2737969411","display_name":"Journal of Clinical Medicine","issn_l":"2077-0383","issn":["2077-0383"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9074000120162964}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3137988967.pdf","grobid_xml":"https://content.openalex.org/works/W3137988967.grobid-xml"},"referenced_works_count":72,"referenced_works":["https://openalex.org/W1521947818","https://openalex.org/W1593974013","https://openalex.org/W1684535387","https://openalex.org/W1965319690","https://openalex.org/W1997358277","https://openalex.org/W2002788109","https://openalex.org/W2004995700","https://openalex.org/W2005899945","https://openalex.org/W2011288871","https://openalex.org/W2013537132","https://openalex.org/W2015762546","https://openalex.org/W2023739325","https://openalex.org/W2026795063","https://openalex.org/W2046357761","https://openalex.org/W2051495891","https://openalex.org/W2069514722","https://openalex.org/W2073459918","https://openalex.org/W2077063868","https://openalex.org/W2078517389","https://openalex.org/W2098568090","https://openalex.org/W2099568318","https://openalex.org/W2104623307","https://openalex.org/W2105266052","https://openalex.org/W2105911051","https://openalex.org/W2117757868","https://openalex.org/W2119957851","https://openalex.org/W2138704587","https://openalex.org/W2141778626","https://openalex.org/W2148050172","https://openalex.org/W2152466837","https://openalex.org/W2165669681","https://openalex.org/W2262166358","https://openalex.org/W2280515229","https://openalex.org/W2337069602","https://openalex.org/W2342456218","https://openalex.org/W2550091567","https://openalex.org/W2590559911","https://openalex.org/W2724258820","https://openalex.org/W2751659465","https://openalex.org/W2888442045","https://openalex.org/W2898322449","https://openalex.org/W2909772933","https://openalex.org/W2916433557","https://openalex.org/W2952447215","https://openalex.org/W2952761091","https://openalex.org/W2955349726","https://openalex.org/W2972340576","https://openalex.org/W2975286949","https://openalex.org/W2981392483","https://openalex.org/W2989956766","https://openalex.org/W2996050482","https://openalex.org/W2997289582","https://openalex.org/W2998196885","https://openalex.org/W3000315473","https://openalex.org/W3003168619","https://openalex.org/W3009202380","https://openalex.org/W3011939060","https://openalex.org/W3016344613","https://openalex.org/W3019773936","https://openalex.org/W3027154851","https://openalex.org/W3028499482","https://openalex.org/W3040821410","https://openalex.org/W3043542196","https://openalex.org/W3046856529","https://openalex.org/W3048092870","https://openalex.org/W3081635137","https://openalex.org/W3087078523","https://openalex.org/W3088837836","https://openalex.org/W3093753038","https://openalex.org/W3096158945","https://openalex.org/W3097791049","https://openalex.org/W4229759268"],"related_works":["https://openalex.org/W2148050172","https://openalex.org/W2088662288","https://openalex.org/W2170375904","https://openalex.org/W2112006297","https://openalex.org/W1969396885","https://openalex.org/W4410313641","https://openalex.org/W1990617767","https://openalex.org/W3099195164","https://openalex.org/W2335405334","https://openalex.org/W7222970314"],"abstract_inverted_index":{"In":[0],"the":[1,5,8,18,27,52,80,99],"last":[2],"ten":[3],"years,":[4],"knowledge":[6],"of":[7,11,30,39,85],"genetic":[9,43,70],"basis":[10],"mitochondrial":[12,24,34,56,86],"diseases":[13],"has":[14],"significantly":[15],"advanced.":[16],"However,":[17],"vast":[19],"phenotypic":[20],"variability":[21],"linked":[22],"to":[23,114],"disorders":[25,35,57],"and":[26,109,130],"peculiar":[28],"characteristics":[29],"their":[31],"genetics":[32],"make":[33],"a":[36,89,93,115],"complex":[37,59],"group":[38],"disorders.":[40],"Although":[41],"specific":[42],"alterations":[44,71],"have":[45],"been":[46],"associated":[47],"with":[48],"some":[49],"syndromic":[50,83],"presentations,":[51],"genotype-phenotype":[53],"relationship":[54],"in":[55,124],"is":[58],"(a":[60],"single":[61],"mutation":[62],"can":[63,72],"cause":[64,73],"several":[65],"clinical":[66,90,131],"syndromes,":[67],"while":[68],"different":[69],"similar":[74],"phenotypes).":[75],"This":[76],"review":[77],"will":[78,121],"revisit":[79],"most":[81],"common":[82],"pictures":[84],"disorders,":[87],"from":[88],"rather":[91],"than":[92],"molecular":[94],"perspective.":[95],"We":[96],"believe":[97],"that":[98],"new":[100],"phenotype":[101],"definitions":[102],"implemented":[103],"by":[104],"recent":[105],"large":[106],"multicenter":[107],"studies,":[108],"revised":[110],"here,":[111],"may":[112],"contribute":[113],"more":[116],"homogeneous":[117],"patient":[118],"categorization,":[119],"which":[120],"be":[122],"useful":[123],"future":[125],"studies":[126],"on":[127],"natural":[128],"history":[129],"trials.":[132]},"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":10},{"year":2023,"cited_by_count":20},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":5}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2021-03-29T00:00:00"}
