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Sharon Yang

Montreal Neurological Institute and Hospital

3

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The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

2019 Molecular Brain
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Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

2017 Molecular Brain
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SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

2016 European Journal of Human Genetics
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