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Correction: Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).
- Published in:
- AAPS Journal, 2024, v. 26, n. 3, p. 1, doi. 10.1208/s12248-024-00925-7
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- Publication type:
- Article
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 896, doi. 10.1007/s12311-023-01559-9
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- Publication type:
- Article
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
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- Cerebellum, 2024, v. 23, n. 3, p. 912, doi. 10.1007/s12311-023-01608-3
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- Publication type:
- Article
FARS‐ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
- Published in:
- Movement Disorders, 2024, v. 39, n. 6, p. 965, doi. 10.1002/mds.29788
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- Publication type:
- Article
Multifeature quantitative motor assessment of upper limb ataxia including drawing and reaching.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1097, doi. 10.1002/acn3.52024
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- Publication type:
- Article
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.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 5, p. 2886, doi. 10.1007/s00415-024-12229-z
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- Publication type:
- Article
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
- Published in:
- Cerebellum, 2024, v. 23, n. 1, p. 121, doi. 10.1007/s12311-023-01514-8
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- Publication type:
- Article
4-Aminopyridine improves real-life gait performance in SCA27B on a single-subject level: a prospective n-of-1 treatment experience.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5629, doi. 10.1007/s00415-023-11868-y
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- Publication type:
- Article
Seroprevalence of autoimmune antibodies in degenerative ataxias: a broad, disease-controlled screening in 456 subjects.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5649, doi. 10.1007/s00415-023-11900-1
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- Publication type:
- Article
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4144, doi. 10.1093/brain/awad157
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- Publication type:
- Article
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 3, p. 470, doi. 10.1002/ana.26712
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- Publication type:
- Article
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort.
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1557, doi. 10.1002/mds.29559
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- Publication type:
- Article
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
- Published in:
- Movement Disorders, 2023, v. 38, n. 6, p. 1109, doi. 10.1002/mds.29397
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- Publication type:
- Article
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 4, p. 654, doi. 10.1002/mds.29324
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- Publication type:
- Article
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 1, p. 46, doi. 10.1093/hmg/ddac173
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- Publication type:
- Article
Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub>): Time to Move Beyond the Skin.
- Published in:
- Movement Disorders, 2022, v. 37, n. 8, p. 1707, doi. 10.1002/mds.29071
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- Publication type:
- Article
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration.
- Published in:
- 2022
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- Publication type:
- journal article
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 10, p. 3845, doi. 10.1007/s00415-021-10524-7
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- Publication type:
- Article
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.677551
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- Publication type:
- Article
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
- Published in:
- 2021
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- Publication type:
- journal article
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71248-8
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- Article
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
- Published in:
- 2020
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- Publication type:
- journal article
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
- Published in:
- Cerebellum, 2019, v. 18, n. 4, p. 807, doi. 10.1007/s12311-019-01028-2
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- Publication type:
- Article
Characterization and clinical use of inflammatory cerebrospinal fluid protein markers in Alzheimer’s disease.
- Published in:
- Alzheimer's Research & Therapy, 2018, v. 10, p. 1, doi. 10.1186/s13195-018-0353-3
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- Publication type:
- Article
sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 5, p. 466, doi. 10.15252/emmm.201506123
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- Publication type:
- Article