PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Rebekah K. Jobling, Mirna Assoum, Oleksandr Gakh, Susan Blaser, Julian A. Raiman, Cyril Mignot, Emmanuel Roze, Alexandra Dürr, Alexis Brice, Nicolas Lévy, Chitra Prasad, Tara Paton, Andrew D. Paterson, Nicole M. Roslin, Christian R. Marshall, Jean Pierre Desvignes, Nathalie Roëckel-Trevisiol, Stephen W. Scherer, Guy A. Rouleau, André MégarbanéGrazia Isaya, Valérie Delague, Grace Yoon

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Medicine & Life Sciences