Disease: Hereditary ataxia
- 4-aminopyridine improves evoked potentials and ambulation in the taiep rat: A model of hypomyelination with atrophy of basal ganglia and cerebellum
- AAV gene therapy to treat Friedreich's ataxia cardiomyopathy
- AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model
- Abnormal vestibular-evoked myogenic potentials as a risk factor for unpredicted falls in spinocerebellar ataxia: a preliminary study
- Abnormalities in signal transduction of Purkinje cells in spinocerebellar ataxias: a review
- An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines
- Anesthetic Management of a Patient With Spinocerebellar Ataxia Type 1
- ASOs are an effective treatment for disease-associated oligodendrocyte signatures in premanifest and symptomatic SCA3 mice
- ATM Variant as a Cause of Hereditary Cutaneous Melanoma in a Spanish Family: Case Report
- ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study
- Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family
- Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
- CAG repeat mosaicism is gene specific in spinocerebellar ataxias
- Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia
- Cerebellar Neurostimulation for Boosting Social and Affective Functions: Implications for the Rehabilitation of Hereditary Ataxia Patients
- CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias
- Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4
- Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia
- Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation
- Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report
- Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias
- Comparison of Prognosis and Cognitive Function of Holistic Neurological Disease: Tochigi Neurological Disease Cohort Study
- Compressed cerebellar functional connectome hierarchy in spinocerebellar ataxia type 3
- Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias
- Defining the progeria phenome
- Different Purkinje cell pathologies cause specific patterns of progressive gait ataxia in mice
- Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia
- Dimeric structures of DNA ATTTC repeats promoted by divalent cations
- Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
- Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
- Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China
- Effect analysis of facial nerve decompression surgery in the treatment of Bell's palsy and Hunt syndrome
- Effect of a Home-Base Core Stability Exercises in Hereditary Ataxia. A Randomized Controlled Trial. A Pilot Randomized Controlled Trial
- Emerging therapies for childhood-onset movement disorders
- Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T
- Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy
- Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach
- Expression and processing of mature human frataxin after gene therapy in mice
- Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism
- Gastrointestinal disorders in hyperkinetic movement disorders and ataxia
- Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient
- Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene
- Genetic Myelopathies
- Genetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze
- Gerstmann-Straussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology
- Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3
- Graft-derived neurons and bystander effects are maintained for six months after human iPSC-derived NESC transplantation in mice's cerebella
- Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?
- Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
- I<sup>123</sup>-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review
- Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis
- Investigating the therapeutic effects of novel compounds targeting inflammatory IL-1beta and IL-6 signaling pathways in spinocerebellar ataxia type 3
- Leber Hereditary Optic Neuropathy in 2 Sisters With Friedreich Ataxia
- Longitudinal MRI and 1H-MRS study of SCA7 mouse forebrain reveals progressive multiregional atrophy and early brain metabolite changes indicating early neuronal and glial dysfunction
- Memantine suppresses the excitotoxicity but fails to rescue the ataxic phenotype in SCA1 model mice
- Mevalonate kinase deficiency
- Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6
- Mitochondrial protein synthesis quality control
- Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated <em>TMEM240</em> p.Pro170Leu Variant
- Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity
- Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
- Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)(n) insertion in spinocerebellar ataxia type 37
- Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)
- Nucleus accumbens degeneration in spinocerebellar ataxia type 2: a preliminary study
- Omaveloxolone for the treatment of Friedreich ataxia: clinical trial results and practical considerations
- Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia
- On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients
- Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
- Paraneoplastic movement disorders
- Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7-Related Hereditary Spastic Paraplegia
- Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut
- Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias
- Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
- Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
- Probing cerebellar circuit dysfunction in rodent models of spinocerebellar ataxia by means of in vivo two-photon calcium imaging
- Recent Advances in the Treatment Strategies of Friedreich's Ataxia: A Review of Potential Drug Candidates and their Underlying Mechanisms
- Recent clinical advances in hereditary spinocerebellar degeneration
- Retinal End Points for ATXN7-Related Spinocerebellar Ataxia
- Retinal OCT biomarkers and neurodegenerative diseases of the central nervous system beyond Alzheimer's disease
- Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI-1601) in Friedreich's ataxia
- Searching for Frataxin Function: Exploring the Analogy with Nqo15, the Frataxin-like Protein of Respiratory Complex I from <em>Thermus thermophilus</em>
- Spermidine treatment: induction of autophagy but also apoptosis?
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
- Spinocerebellar Ataxia Type 3 Pathophysiology-Implications for Translational Research and Clinical Studies
- Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype
- The <em>DST</em> gene in neurobiology
- The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
- The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
- The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
- The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
- The natural breakthrough: phytochemicals as potent therapeutic agents against spinocerebellar ataxia type 3
- Tissue Iron in Friedreich Ataxia
- Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3
- Tumor-educated Gr1+CD11b+ cells drive breast cancer metastasis via OSM/IL-6/JAK-induced cancer cell plasticity
- Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
- Unique combinations of ultrasound and electrophysiological findings distinguish Friedreich's ataxia from other inherited ataxias
- Variant ataxia telangiectasia identified during evaluation for short stature
- Vitamin D<sub>3</sub> deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis