Disease: Spinocerebellar ataxia 20
- 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