Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

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Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

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Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

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Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

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Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

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Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

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The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

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RNA-splicing endonuclease structure and function

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