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Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade

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dc.contributor.authorRebelo, Adriana
dc.contributor.authorTomaselli, Pedro [UNESP]
dc.contributor.authorMedina, Jessica
dc.contributor.authorNyvltova, Eva
dc.contributor.authorRuiz, Ariel
dc.contributor.authorDohrn, Maike
dc.contributor.authorWang, Ying
dc.contributor.authorSaporta, Mario
dc.contributor.authorHekimi, Siegfried
dc.contributor.authorBarrientos, Antonio
dc.contributor.authorWeihl, Conrad
dc.contributor.authorShy, Michael
dc.contributor.authorMarques, Wilson [UNESP]
dc.contributor.authorZuchner, Stephan
dc.contributor.institutionUniv Miami
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionMcGill Univ
dc.contributor.institutionMcGill
dc.contributor.institutionWashington Univ St Louis
dc.contributor.institutionUniv Iowa
dc.date.accessioned2022-11-30T13:40:10Z
dc.date.available2022-11-30T13:40:10Z
dc.date.issued2022-07-01
dc.description.affiliationUniv Miami, Miami, FL USA
dc.description.affiliationSao Paulo State Univ, Sch Med Ribeirao Preto, Ribeirao Preto, Brazil
dc.description.affiliationUniv Miami, Miller Sch Med, Miami, FL 33136 USA
dc.description.affiliationUniv Miami, John P Hussman Inst Human Genom, Miami, FL USA
dc.description.affiliationMcGill Univ, Montreal, PQ, Canada
dc.description.affiliationUniv Miami, Miller Sch Med, Dept Neurol, Miami, FL USA
dc.description.affiliationMcGill, Montreal, PQ, Canada
dc.description.affiliationWashington Univ St Louis, St Loius, MO USA
dc.description.affiliationUniv Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA USA
dc.description.affiliationUnespSao Paulo State Univ, Sch Med Ribeirao Preto, Ribeirao Preto, Brazil
dc.format.extentS118-S118
dc.identifier.citationJournal Of The Peripheral Nervous System. Hoboken: Wiley, v. 27, p. S118-S118, 2022.
dc.identifier.issn1085-9489
dc.identifier.urihttp://hdl.handle.net/11449/237620
dc.identifier.wosWOS:000822950200241
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofJournal Of The Peripheral Nervous System
dc.sourceWeb of Science
dc.subjectNovel CMT gene
dc.subjectCOQ7
dc.subjectCoenzyme Q10 (CoQ10)
dc.subjectMitochondria
dc.subjectGenetics
dc.titleBiallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseadeen
dc.typeResumo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-Blackwell
dspace.entity.typePublication

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