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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients

dc.contributor.authorKlopstock, Thomas
dc.contributor.authorMurray, Nathan H.
dc.contributor.authorBingman, Craig A.
dc.contributor.authorReich, Selina
dc.contributor.authorKern, Jan
dc.contributor.authorHeinzmann, Anna
dc.contributor.authorVasco, Gessica
dc.contributor.authorBertini, Enrico
dc.contributor.authorZanni, Ginevra
dc.contributor.authorDurr, Alexandra
dc.contributor.authorMagri, Stefania
dc.contributor.authorTaroni, Franco
dc.contributor.authorMalandrini, Alessandro
dc.contributor.authorBaets, Jonathan
dc.contributor.authorde Jonghe, Peter
dc.contributor.authorde Ridder, Willem
dc.contributor.authorBereau, Matthieu
dc.contributor.authorDemuth, Stephanie
dc.contributor.authorGanos, Christos
dc.contributor.authorBasak, A. Nazli
dc.contributor.authorHanagasi, Hasmet
dc.contributor.authorKurul, Semra Hiz
dc.contributor.authorBender, Benjamin
dc.contributor.authorSchoels, Ludger
dc.contributor.authorGrasshoff, Ute
dc.contributor.authorHorvath, Rita
dc.contributor.authorvan de Warrenburg, Bart
dc.contributor.authorBurglen, Lydie
dc.contributor.authorRougeot, Christelle
dc.contributor.authorEwenczyk, Claire
dc.contributor.authorKoenig, Michel
dc.contributor.authorSantorelli, Filippo M.
dc.contributor.authorAnheim, Mathieu
dc.contributor.authorMunhoz, Renato P.
dc.contributor.authorHaack, Tobias
dc.contributor.authorDistelmaier, Felix
dc.contributor.authorPagliarini, David J.
dc.contributor.authorPuccio, Helene
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorTraschuetz, Andreas
dc.contributor.authorSchirinzi, Tommaso
dc.contributor.authorLaugwitz, Lucia
dc.date.accessioned2021-03-02T17:27:49Z
dc.date.available2021-03-02T17:27:49Z
dc.date.issued2020
dc.identifier.citationTraschuetz A., Schirinzi T., Laugwitz L., Murray N. H. , Bingman C. A. , Reich S., Kern J., Heinzmann A., Vasco G., Bertini E., et al., "Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients", ANNALS OF NEUROLOGY, cilt.88, ss.251-263, 2020
dc.identifier.issn0364-5134
dc.identifier.othervv_1032021
dc.identifier.otherav_97dfa73c-2dd1-4536-8d75-2b11b8f55a45
dc.identifier.urihttp://hdl.handle.net/20.500.12627/3814
dc.identifier.urihttps://doi.org/10.1002/ana.25751
dc.description.abstractObjective: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including treatment response to coenzyme Q10 (CoQ10).
dc.language.isoeng
dc.subjectNöroloji
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectNEUROSCIENCES
dc.subjectSinirbilim ve Davranış
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.titleClinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients
dc.typeMakale
dc.relation.journalANNALS OF NEUROLOGY
dc.contributor.departmentEberhard Karls University of Tubingen , ,
dc.identifier.volume88
dc.identifier.issue2
dc.identifier.startpage251
dc.identifier.endpage263
dc.contributor.firstauthorID2283820


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