Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature von Ivanov, I., Atkinson, D., Litvinenko, I., Angelova, L., Andonova, S., Mumdjiev, H., Pacheva, I., Panova, M., Yordanova, R., Belovejdov, V., Petrova, A., Bosheva, M., Shmilev, T., Savov, A., Jordanova, A.

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Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1 von Ivanov, I, Jordanova, A, Litvinenko, I, Angelova, L, Mumdjiev, H, Pacheva, I, Panova, M, Yordanova, R, Atkinson, D, Belovejdov, V, Andonova, S, Bosheva, M, Shmilev, T, Savov, A

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