• A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies
• A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
• Accelerated replicative senescence of ataxia-telangiectasia skin fibroblasts is retained at physiologic oxygen levels, with unique and common transcriptional patterns
• Analysis and hierarchical clustering of infratentorial morphological MRI identifies SCAs phenogroups
• Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient
• Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset
• EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
• Genome-Wide Screening in Human Embryonic Stem Cells Highlights the Hippo Signaling Pathway as Granting Synthetic Viability in ATM Deficiency
• Identification of the SCA21 disease gene: remaining challenges and promising opportunities
• 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
• K_Ca 2.2 (KCNN2): A physiologically and therapeutically important potassium channel
• Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis
• Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240
• Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated <em>TMEM240</em> p.Pro170Leu Variant
• Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body
• Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function
• On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy
• Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
• Pearls &amp; Oy-sters: SCA21 Due to <em>TMEM240</em> Variation Presenting as Myoclonus Dystonia Syndrome
• Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21
• Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
• Spinocerebellar ataxia type 21 exists in the Chinese Han population
• Spinocerebellar Ataxia-21 in a Turkish Child
• Temporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration
• The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype
• The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
• THE HIDDEN VESTIBULAR FEATURES OF MACHADO JOSEPH DISEASE (SPINOCEREBELLAR ATAXIA 3)
• The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature
• The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240)
• The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals