학술논문
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Document Type
Journal Article
Author
Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Göricke, Sophia L.; Lingor, Paul; Brüggemann, Norbert; Münchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus
Source
Subject
*PROTEINS
*GENETIC mutation
*MITOCHONDRIAL pathology
*CEREBELLAR ataxia
*UBIQUINONES
*MUSCLE weakness
*SPASTICITY
*ATAXIA
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Language
ISSN
0885-3185
Abstract