VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) von Feinstein, Miora, Flusser, Hagit, Lerman-Sagie, Tally, Ben-Zeev, Bruria, Lev, Dorit, Agamy, Orly, Cohen, Idan, Kadir, Rotem, Sivan, Sara, Leshinsky-Silver, Esther, Markus, Barak, Birk, Ohad S

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A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3 von Halperin, Daniel, Agam, Nadav, Hallak, Maher, Feinstein, Miora, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Shavit, Eitan, Gradstein, Libe, Shelef, Ilan, Mijalovsky, Aanalia, Flusser, Hagit, Birk, Ohad S.

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Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation von Feinstein, Miora, Markus, Barak, Noyman, Iris, Shalev, Hannah, Flusser, Hagit, Shelef, Ilan, Liani-Leibson, Keren, Shorer, Zamir, Cohen, Idan, Khateeb, Shareef, Sivan, Sara, Birk, Ohad S.

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Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD von Feinstein, Miora, Markus, Barak, Noyman, Iris, Shalev, Hannah, Flusser, Hagit, Shelef, Ilan, Liani-Leibson, Keren, Shorer, Zamir, Cohen, Idan, Khateeb, Shareef, Sivan, Sara, Birk, Ohad S.

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Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture von Feinstein-Linial, Miora, Buvoli, Massimo, Buvoli, Ada, Sadeh, Menachem, Dabby, Ron, Straussberg, Rachel, Shelef, Ilan, Dayan, Daniel, Leinwand, Leslie Anne, Birk, Ohad S

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