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• Islands and Neurology: An Exploration into a Unique Association
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• New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants
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• Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
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• Reply to: "Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions"
• Reply to: Comment to "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies"
• SARA captures disparate progression and responsiveness in spinocerebellar ataxias
• SCAR32: Functional characterization and expansion of the clinical-genetic spectrum
• Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome
• Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment
• Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <em>ATM</em> sequence variants
• Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort
• Spinocerebellar ataxia masquerading as multiple sclerosis, a case report
• Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
• Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms
• Status epilepticus in POLG disease: a large multinational study
• STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8
• The characteristic and biomarker value of transcranial sonography in cerebellar ataxia
• The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024)
• The importance of synthetic pharmacotherapy for recessive cerebellar ataxias
• The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
• The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17
• The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
• The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease
• The Regulation of the Disease-Causing Gene <em>FXN</em>
• Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2
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• Tremor in Spinocerebellar Ataxia: A Scoping Review
• Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in <em>NT5C2</em> Gene: Concomitant <em>RYR1</em> Gene in One Sibling