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

Detalhes bibliográficos
Autor(a) principal: Rebelo, Adriana
Data de Publicação: 2022
Outros Autores: Tomaselli, Pedro [UNESP], Medina, Jessica, Nyvltova, Eva, Ruiz, Ariel, Dohrn, Maike, Wang, Ying, Saporta, Mario, Hekimi, Siegfried, Barrientos, Antonio, Weihl, Conrad, Shy, Michael, Marques, Wilson [UNESP], Zuchner, Stephan
Tipo de documento: Artigo de conferência
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://hdl.handle.net/11449/237620
Resumo: Univ Miami, Miami, FL USA
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spelling Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseadeNovel CMT geneCOQ7Coenzyme Q10 (CoQ10)MitochondriaGeneticsUniv Miami, Miami, FL USASao Paulo State Univ, Sch Med Ribeirao Preto, Ribeirao Preto, BrazilUniv Miami, Miller Sch Med, Miami, FL 33136 USAUniv Miami, John P Hussman Inst Human Genom, Miami, FL USAMcGill Univ, Montreal, PQ, CanadaUniv Miami, Miller Sch Med, Dept Neurol, Miami, FL USAMcGill, Montreal, PQ, CanadaWashington Univ St Louis, St Loius, MO USAUniv Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA USASao Paulo State Univ, Sch Med Ribeirao Preto, Ribeirao Preto, BrazilWiley-BlackwellUniv MiamiUniversidade Estadual Paulista (UNESP)McGill UnivMcGillWashington Univ St LouisUniv IowaRebelo, AdrianaTomaselli, Pedro [UNESP]Medina, JessicaNyvltova, EvaRuiz, ArielDohrn, MaikeWang, YingSaporta, MarioHekimi, SiegfriedBarrientos, AntonioWeihl, ConradShy, MichaelMarques, Wilson [UNESP]Zuchner, Stephan2022-11-30T13:40:10Z2022-11-30T13:40:10Z2022-07-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/conferenceObjectS118-S118Journal Of The Peripheral Nervous System. Hoboken: Wiley, v. 27, p. S118-S118, 2022.1085-9489http://hdl.handle.net/11449/237620WOS:000822950200241Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengJournal Of The Peripheral Nervous Systeminfo:eu-repo/semantics/openAccess2022-11-30T13:40:10Zoai:repositorio.unesp.br:11449/237620Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T18:47:31.607054Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
title Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
spellingShingle Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
Rebelo, Adriana
Novel CMT gene
COQ7
Coenzyme Q10 (CoQ10)
Mitochondria
Genetics
title_short Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
title_full Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
title_fullStr Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
title_full_unstemmed Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
title_sort Biallelic variants in COQ7 leading to coenzyme Q10 deficiency cause charcot-marie-tooth diseade
author Rebelo, Adriana
author_facet Rebelo, Adriana
Tomaselli, Pedro [UNESP]
Medina, Jessica
Nyvltova, Eva
Ruiz, Ariel
Dohrn, Maike
Wang, Ying
Saporta, Mario
Hekimi, Siegfried
Barrientos, Antonio
Weihl, Conrad
Shy, Michael
Marques, Wilson [UNESP]
Zuchner, Stephan
author_role author
author2 Tomaselli, Pedro [UNESP]
Medina, Jessica
Nyvltova, Eva
Ruiz, Ariel
Dohrn, Maike
Wang, Ying
Saporta, Mario
Hekimi, Siegfried
Barrientos, Antonio
Weihl, Conrad
Shy, Michael
Marques, Wilson [UNESP]
Zuchner, Stephan
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Univ Miami
Universidade Estadual Paulista (UNESP)
McGill Univ
McGill
Washington Univ St Louis
Univ Iowa
dc.contributor.author.fl_str_mv Rebelo, Adriana
Tomaselli, Pedro [UNESP]
Medina, Jessica
Nyvltova, Eva
Ruiz, Ariel
Dohrn, Maike
Wang, Ying
Saporta, Mario
Hekimi, Siegfried
Barrientos, Antonio
Weihl, Conrad
Shy, Michael
Marques, Wilson [UNESP]
Zuchner, Stephan
dc.subject.por.fl_str_mv Novel CMT gene
COQ7
Coenzyme Q10 (CoQ10)
Mitochondria
Genetics
topic Novel CMT gene
COQ7
Coenzyme Q10 (CoQ10)
Mitochondria
Genetics
description Univ Miami, Miami, FL USA
publishDate 2022
dc.date.none.fl_str_mv 2022-11-30T13:40:10Z
2022-11-30T13:40:10Z
2022-07-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/conferenceObject
format conferenceObject
status_str publishedVersion
dc.identifier.uri.fl_str_mv Journal Of The Peripheral Nervous System. Hoboken: Wiley, v. 27, p. S118-S118, 2022.
1085-9489
http://hdl.handle.net/11449/237620
WOS:000822950200241
identifier_str_mv Journal Of The Peripheral Nervous System. Hoboken: Wiley, v. 27, p. S118-S118, 2022.
1085-9489
WOS:000822950200241
url http://hdl.handle.net/11449/237620
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Journal Of The Peripheral Nervous System
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv S118-S118
dc.publisher.none.fl_str_mv Wiley-Blackwell
publisher.none.fl_str_mv Wiley-Blackwell
dc.source.none.fl_str_mv Web of Science
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
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