• Abnormal saccade profiles in hereditary spinocerebellar degeneration reveal cerebellar contribution to visually guided saccades
• Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
• Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl
• Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
• Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know
• Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3
• Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset
• Efficacy of high-frequency repetitive transcranial magnetic stimulation in a family with spinocerebellar ataxia type 3: A case report
• Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
• Extensive intracranial calcifications in a patient with a novel polymerase γ-1 mutation
• First families with spinocerebellar ataxia type 7 in Poland
• Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report
• Inhibition of the MEK/ERK pathway suppresses immune overactivation and mitigates TDP-43 toxicity in a Drosophila model of ALS
• Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study
• Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
• 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
• Reactive Bergmann glia play a central role in spinocerebellar ataxia inflammation via the JNK pathway
• SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate
• SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
• Spinocerebellar ataxia type 20
• Spontaneous remission of angioimmunoblastic T-cell lymphoma in a child with ataxia-telangiectasia: a case report
• The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
• Two Compound Heterozygous Variants in <em>SNX14</em> Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
• Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20