• A framework for individualized splice-switching oligonucleotide therapy
• Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23
• Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23
• Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
• Clinical and genetic features of a case with juvenile onset sandhoff disease
• Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)
• 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
• Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset
• Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23
• Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene
• Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
• Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
• Intermuscular coherence in spinocerebellar ataxias 3 and 6: a preliminary study
• Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study
• K_Ca 2.2 (KCNN2): A physiologically and therapeutically important potassium channel
• Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe
• Non-opioid nociceptive activity of human dynorphin mutants that cause neurodegenerative disorder spinocerebellar ataxia type 23
• Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function
• Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
• Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates
• PolyQ Database-an integrated database on polyglutamine diseases
• Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population
• The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene
• The frequency of spinocerebellar ataxia type 23 in a UK population
• The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias