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

Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan; Bingman, Craig; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A.; Hanagasi, HAŞMET; Kurul, Semra; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo; Anheim, Mathieu; Munhoz, Renato; Haack, Tobias; Distelmaier, Felix; Pagliarini, David; Puccio, Helene; Synofzik, Matthis

doi:10.1002/ana.25751

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

Traschuetz A., Schirinzi T., Laugwitz L., Murray N. H., Bingman C. A., Reich S., ...Daha Fazla

ANNALS OF NEUROLOGY, cilt.88, sa.2, ss.251-263, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 88 Sayı: 2
Basım Tarihi: 2020
Doi Numarası: 10.1002/ana.25751
Dergi Adı: ANNALS OF NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Psycinfo, Veterinary Science Database
Sayfa Sayıları: ss.251-263
İstanbul Üniversitesi Adresli: Evet

Özet

Objective: 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).