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• Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis7
• Monogenic disorders that mimic the phenotype of Rett syndrome7
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• The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes6
• The polynucleotide kinase 3 '-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED256
• Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia5
• A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity5