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Mathilde Mairey

École pratique des hautes études

4

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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

2017 European Journal of Human Genetics
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Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

2017 Neurobiology of Aging
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Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

2017 European Journal of Human Genetics
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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

2015 Brain
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