Disease: Spinocerebellar ataxia 27
- Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene
- Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
- Arbidol inhibits human esophageal squamous cell carcinoma growth in vitro and in vivo through suppressing ataxia telangiectasia and Rad3-related protein kinase
- Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27
- Camonsertib in DNA damage response-deficient advanced solid tumors: phase 1 trial results
- Case Report: Deep brain stimulation improves tremor in <em>FGF-14</em> associated spinocerebellar ataxia
- Effects of transcranial magnetic stimulation on cerebellar ataxia: A systematic review and meta-analysis
- Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria
- Erratum to: Reply: Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
- Genetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited Settings
- Hepatocyte Transplantation Rebalances Cytokines for Hepatic Regeneration in Rats with Ataxia Telangiectasia Mutated Pathway-Related Acute Liver Failure
- High-throughput screening against protein:protein interaction interfaces reveals anti-cancer therapeutics as potent modulators of the voltage-gated Na<sup>+</sup> channel complex
- Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains
- Inhibition of the MEK/ERK pathway suppresses immune overactivation and mitigates TDP-43 toxicity in a Drosophila model of ALS
- Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance
- Motor and somatosensory degenerative myelopathy responsive to pantothenic acid in piglets
- Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual
- Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
- Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
- Pearls & Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology
- Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
- SCA27 is a cause of early-onset ataxia and developmental delay
- Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14
- Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype
- Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion
- Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene
- The role of the basal ganglia and cerebellum in adaptation to others' speech rate and rhythm: A study of patients with Parkinson's disease and cerebellar degeneration