Disease: Olivopontocerebellar atrophy type 3
- A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases
- A Neonate with a Diagnosis of Pontocerebellar Hypoplasia Type 6 Treated with Biotin and Developed Biotin Interference with Laboratory Thyroid Function Tests
- A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
- A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile
- Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations
- Early and extensive alterations of glial connexins, distal oligodendrogliopathy type demyelination, and nodal/paranodal pathology are characteristic of multiple system atrophy
- Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review
- Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial
- Loss of Piccolo Function in Rats Induces Cerebellar Network Dysfunction and Pontocerebellar Hypoplasia Type 3-like Phenotypes
- New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient
- Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
- Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report
- Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review
- Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease
- Supratentorial and Infratentorial Lesions in Spinocerebellar Ataxia Type 3
- Teaching Video NeuroImages: Palatal tremor associated with <em>SPG7</em> variants