Record Type: Journal Article / Author/Creator: Ruzzo, E.K. - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Record Type Journal Article Author/Creator Ruzzo, E.K.

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
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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
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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
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