• A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2
• A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model
• Autophagy Function and Benefits of Autophagy Induction in Models of Spinocerebellar Ataxia Type 3
• Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature
• Development and validation of an ultrahigh-performance liquid chromatography-tandem mass spectrometry method to investigate the plasma pharmacokinetics of a K_Ca 2.2/K_Ca 2.3 positive allosteric modulator in mic
• Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
• Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
• GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
• Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia
• Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia
• Isolated palatal tremor as unique clinical manifestation of SCA 18 due to a new mutation of IFRD1
• Long-term follow-up in infantile-onset SCAR18: A case report
• Mycoplasma DnaK increases DNA copy number variants in vivo
• Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
• Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
• Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography
• Systematic assessment of plasma biomarkers in spinocerebellar ataxia
• Temporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration
• Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease
• Ultrasonographic evaluation of the peripheral nerves in a patient with chronic neuropathy and dandy-walker syndrome