Disease: Hereditary cerebellar ataxia syndrome of early onset
- A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
- A novel mutation in <em>RNF216</em> gene in an Indian case with Gordon Holmes syndrome
- A novel mutation in RNF216 gene in an Indian case with Gordon Holmes syndrome
- A Rare Phenotype of Inherited Cerebellar Ataxia
- APTX acts in DNA double-strand break repair in a manner distinct from XRCC4
- CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
- Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): diagnostic contribution of vestibular function tests
- Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages
- Early-onset Parkinson's disease with atypical molecular imaging abnormalities in a patient carrying the de novo PRKCG mutation
- Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjogren syndrome: Case report and literature review
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
- Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype
- Novel <em>KCND3</em> Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K<sub>V</sub>4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
- Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
- Retrocollis as the cardinal feature in a de novo ITRP1 variant
- Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder
- Spinocerebellar ataxia type 3: response to levodopa infusion in two cases
- Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <em>ITPR1</em>-Related Disorders
- Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
- Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia