| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6016536 | European Journal of Paediatric Neurology | 2016 | 6 Pages |
Abstract
We suggest that RARS2 gene mutations can cause a metabolic neurodegenerative disease manifesting primarily as EOEE with post-natal microcephaly, without the distinctive radiological features of pontocerebellar hypoplasia.
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Authors
Daniella Nishri, Hadassa Goldberg-Stern, Iris Noyman, Lubov Blumkin, Sara Kivity, Hirotomo Saitsu, Mitsuko Nakashima, Naomichi Matsumoto, Esther Leshinsky-Silver, Tally Lerman-Sagie, Dorit Lev,