Quaghebeur, Gerardine
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Most cited papers
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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics
Cerebrovascular and genetic disordersGenomics and Rare Diseases
Cited by 148
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Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations
Liao, C., Ashley, N., Diot, A., Morten, K., Phadwal, K., Williams, A., Fearnley, I., Rosser, L., Lowndes, J., Fratter, C., et al. (2017) · Neurology
Autophagy in Disease and TherapyMitochondrial Function and Pathology
Cited by 97
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