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

Andreas TraschützTommaso SchirinziLucia LaugwitzNathan H MurrayCraig A BingmanSelina ReichJan KernAnna HeinzmannGessica VascoEnrico BertiniGinevra ZanniAlexandra DurrStefania MagriFranco TaroniAlessandro MalandriniJonathan BaetsPeter de JongheWillem de RidderMatthieu BereauStephanie DemuthChristos GanosA Nazli BasakHasmet HanagasiSemra Hiz KurulBenjamin BenderLudger SchölsUte GrasshoffThomas KlopstockRita HorvathBart van de WarrenburgLydie BurglenChristelle RougeotClaire EwenczykMichel KoenigFilippo Maria SantorelliMathieu AnheimRenato P MunhozTobias HaackFelix DistelmaierDavid J PagliariniHélène PuccioMatthis Synofzik

Published in: Annals of neurology (2020)

This study provides a deeper understanding of the disease, and paves the way toward large-scale natural history studies and treatment trials in COQ8A-ataxia. ANN NEUROL 2020;88:251-263.

Keyphrases

early onset
high resolution
genome wide
cross sectional
dna methylation
single molecule
double blind
case control
mass spectrometry
replacement therapy