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A Watchful Eye for the Acutely Unsteady Child.
- Published in:
- Clinical Pediatrics, 2024, v. 63, n. 7, p. 1005, doi. 10.1177/00099228231199979
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- Publication type:
- Article
Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia.
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- Journal of Integrative Neuroscience, 2024, v. 23, n. 4, p. 1, doi. 10.31083/j.jin2304079
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- Article
Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1401286
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- Article
Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6378, doi. 10.3390/ijms25126378
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- Article
From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood.
- Published in:
- Archives of Epilepsy, 2024, v. 30, n. 2, p. 53, doi. 10.4274/ArchEpilepsy.2024.24114
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- Publication type:
- Article
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 1031, doi. 10.1007/s12311-023-01604-7
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- Article
Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders.
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- Cerebellum, 2024, v. 23, n. 3, p. 1042, doi. 10.1007/s12311-023-01607-4
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- Article
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.
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- Cerebellum, 2024, v. 23, n. 3, p. 1135, doi. 10.1007/s12311-023-01620-7
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- Publication type:
- Article
"Hot Cross Bun" Sign in a Patient with Glutamic Acid Decarboxylase 65-KDa Isoform Associated Cerebellar Ataxia: Case Report and Review of the Literature.
- Published in:
- 2024
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- Publication type:
- Case Study
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
- Published in:
- 2024
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- Publication type:
- Case Study
IgG4 Disease-Related Ataxia.
- Published in:
- 2024
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- Publication type:
- Case Study
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 1239, doi. 10.1007/s12311-023-01606-5
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- Publication type:
- Article
Bilateral Cerebellar Repetitive Transcranial Magnetic Stimulation for Chronic Ataxia After Hemorrhagic Stroke: a Case Report.
- Published in:
- 2024
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- Publication type:
- Case Study
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5759, doi. 10.3390/ijms25115759
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- Article
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 626, doi. 10.1002/mdc3.14020
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- Publication type:
- Article
Case Presentation of Autoimmune Septin‐5 Cerebellar Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 734, doi. 10.1002/mdc3.14028
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- Publication type:
- Article
Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 6, p. 2877, doi. 10.1007/s10072-024-07453-4
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- Publication type:
- Article
Cerebellar ataxia and primary Sjogren's syndrome without cerebellar degeneration: a case report.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 6, p. 2919, doi. 10.1007/s10072-024-07333-x
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- Publication type:
- Article
Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Optimizing Rare Disease Gait Classification through Data Balancing and Generative AI: Insights from Hereditary Cerebellar Ataxia.
- Published in:
- Sensors (14248220), 2024, v. 24, n. 11, p. 3613, doi. 10.3390/s24113613
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- Publication type:
- Article
Case report: Isolated brainstemcerebellar symptoms in a patient with anti-NMDA receptor encephalitis.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1388667
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- Publication type:
- Article
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
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- Publication type:
- Article
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03212-y
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- Article
Atypical Presentation of Seronegative Paraneoplastic Lambert--Eaton Myasthenic Syndrome with Cerebellar Ataxia.
- Published in:
- 2024
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- Letter to the Editor
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
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- Publication type:
- Article
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
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- Journal of Neurology, 2024, v. 271, n. 5, p. 2886, doi. 10.1007/s00415-024-12229-z
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- Publication type:
- Article
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 496, doi. 10.1002/mdc3.14006
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- Publication type:
- Article
Autoimmunity to voltage‐gated calcium channels.
- Published in:
- Neurology & Clinical Neuroscience, 2024, v. 12, n. 3, p. 150, doi. 10.1111/ncn3.12707
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- Publication type:
- Article
Gluten Ataxia and mGluR1 Autoimmune Encephalitis Presenting as Acute Cerebellar Ataxia: A Case Report.
- Published in:
- South Dakota Medicine, 2024, v. 77, n. 5, p. 207
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- Publication type:
- Article
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
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- Publication type:
- Article
Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1373448
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- Publication type:
- Article
Remote assessment of cognition in Parkinson's disease and Cerebellar Ataxia: the MoCA test in English and Hebrew.
- Published in:
- Frontiers in Human Neuroscience, 2024, p. 1, doi. 10.3389/fnhum.2023.1325215
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- Publication type:
- Article
Corrigendum: Remote assessment of cognition in Parkinson's disease and cerebellar ataxia: the MoCA test in English and Hebrew.
- Published in:
- Frontiers in Human Neuroscience, 2024, p. 1, doi. 10.3389/fnhum.2024.1401098
- Publication type:
- Article
Primary Coenzyme Q10 Deficiency-Related Ataxias.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2391, doi. 10.3390/jcm13082391
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- Publication type:
- Article
Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation.
- Published in:
- Sensors (14248220), 2024, v. 24, n. 8, p. 2586, doi. 10.3390/s24082586
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- Publication type:
- Article
Transcranial Sonography Characteristics of Cerebellar Neurodegenerative Ataxias.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 4, p. 340, doi. 10.3390/brainsci14040340
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- Publication type:
- Article
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1436, doi. 10.1093/brain/awad380
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- Publication type:
- Article
Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 455, doi. 10.1007/s12311-023-01528-2
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- Publication type:
- Article
Uncertainty of Vowel Predictions as a Digital Biomarker for Ataxic Dysarthria.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 459, doi. 10.1007/s12311-023-01539-z
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- Publication type:
- Article
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 479, doi. 10.1007/s12311-023-01557-x
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- Publication type:
- Article
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 579, doi. 10.1007/s12311-023-01580-y
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- Publication type:
- Article
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 678, doi. 10.1007/s12311-023-01540-6
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- Publication type:
- Article
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 688, doi. 10.1007/s12311-023-01549-x
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- Publication type:
- Article
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 757, doi. 10.1007/s12311-023-01562-0
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- Publication type:
- Article
Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA).
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 838, doi. 10.1007/s12311-023-01550-4
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- Publication type:
- Article
The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 4, p. 446, doi. 10.1111/cge.14482
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- Publication type:
- Article
Videoocular assessment of eye movement activity in an ataxia–telangiectasia: a case study.
- Published in:
- 2024
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- Publication type:
- Case Study
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 2078, doi. 10.1007/s00415-024-12182-x
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- Publication type:
- Article
Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 411, doi. 10.1002/mdc3.13976
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- Publication type:
- Article
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 4, p. 1515, doi. 10.1007/s10072-023-07178-w
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- Publication type:
- Article