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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

Marianthi Breza , Thomas Bourinaris, Stephanie Efthymiou, Reza Maroofian, Alkyoni Athanasiou-Fragkouli, John Tzartos, Georgios Velonakis, Efstratios Karavasilis , Georgia Angelopoulou, Dimitrios Kasselimis, Constantin Potagas, Leonidas Stefanis, Georgia Karadima, Georgios Koutsis, Henry Houlden
Published: 18 May 2020
 by  Oxford University Press (OUP)
 in Brain
Brain , Volume 143; doi:10.1093/brain/awaa120

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Keywords: Function / adult / ataxia / cerebellar / homozygous GDAP2 loss

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