1. Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia. (June 2017) Authors: Nissenkorn, A.; Eyal, E.; Zhou, X.; Ruzzo, E.K.; Goldstein, D.B.; Anikster, Y.; Pras, E.; Oz-Levi, D.; Lancet, D.; Ben-Zeev, B.; Heimer, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin. (January 2018) Authors: Heimer, G.; Eyal, E.; Zhu, X.; Ruzzo, E.K.; Marek-Yagel, D.; Sagiv, Doron; Anikster, Y.; Reznik-Wolf, H.; Pras, E.; Oz Levi, D.; Lancet, D.; Ben-Zeev, B.; Nissenkorn, A. Journal: European journal of paediatric neurology Issue: Volume 22:Number 1(2018:Jan.) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. (28th July 2015) Authors: Heimer, G.; Marek‐Yagel, D.; Eyal, E.; Barel, O.; Oz Levi, D.; Hoffmann, C.; Ruzzo, E.K.; Ganelin‐Cohen, E.; Lancet, D.; Pras, E.; Rechavi, G.; Nissenkorn, A.; Anikster, Y.; Goldstein, D.B.; Ben Zeev, B. Journal: Clinical genetics Issue: Volume 88:Number 4(2015:Oct.) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗