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. Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. (May 2019) Authors: Weisz-Hubshman, M.; Meirson, H.; Michaelson-Cohen, R.; Beeri, R.; Tzur, S.; Bormans, C.; Modai, S.; Shomron, N.; Shilon, Y.; Banne, E.; Orenstein, N.; Konen, O.; Marek-Yagel, D.; Veber, A.; Shalva, N.; Imagawa, E.; Matsumoto, N.; Lev, D.; Lerman Sagie, T.; Raas-Rothschild, A. Journal: European journal of paediatric neurology Issue: Volume 23:Number 3(2019:May) Page Start: 418 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗