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Clinical features, disease progression, and nuclear imaging in ATXN2-related parkinsonism in a longitudinal cohort.
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- Neurological Sciences, 2024, v. 45, n. 7, p. 3191, doi. 10.1007/s10072-024-07383-1
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- Article
Preserved VPS13A distribution and expression in Huntington's disease: divergent mechanisms of action for similar movement disorders?
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- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1394478
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- Article
Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances.
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- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1422442
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- Article
Huntington's disease affects mitochondrial network dynamics predisposing to pathogenic mitochondrial DNA mutations.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2009, doi. 10.1093/brain/awae007
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- Article
Scale for the Assessment and Rating of Ataxia (SARA): Development of a Training Tool and Certification Program.
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- Cerebellum, 2024, v. 23, n. 3, p. 877, doi. 10.1007/s12311-023-01543-3
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- Article
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
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- Cerebellum, 2024, v. 23, n. 3, p. 887, doi. 10.1007/s12311-023-01546-0
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- Article
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
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- Cerebellum, 2024, v. 23, n. 3, p. 896, doi. 10.1007/s12311-023-01559-9
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- Article
Comparison of Two Therapeutic Approaches of Cerebellar Transcranial Direct Current Stimulation in a Sardinian Family Affected by Spinocerebellar Ataxia 38: a Clinical and Computerized 3D Gait Analysis Study.
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- Cerebellum, 2024, v. 23, n. 3, p. 973, doi. 10.1007/s12311-023-01590-w
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- Article
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L.
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- Cerebellum, 2024, v. 23, n. 3, p. 1020, doi. 10.1007/s12311-023-01597-3
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- Article
Quantitative Speech Assessment in Ataxia—Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers.
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- Cerebellum, 2024, v. 23, n. 3, p. 1128, doi. 10.1007/s12311-023-01623-4
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- Article
Patient-Reported Outcome Measure of Ataxia Correlates with Canonical Clinical Assessments in Chinese Spinocerebellar Ataxias.
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- Cerebellum, 2024, v. 23, n. 3, p. 1157, doi. 10.1007/s12311-023-01630-5
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- Article
Epidemiology of Spinocerebellar Ataxias in Europe.
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- Cerebellum, 2024, v. 23, n. 3, p. 1176, doi. 10.1007/s12311-023-01600-x
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- Article
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
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- 2024
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- Case Study
Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.
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- 2024
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- Publication type:
- Case Study
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?
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- 2024
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- Case Study
POLR3A-related disorders: expanding the clinical phenotype.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3635, doi. 10.1007/s00415-024-12265-9
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- Article
FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3643, doi. 10.1007/s00415-024-12308-1
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- Article
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 626, doi. 10.1002/mdc3.14020
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- Article
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 746, doi. 10.1002/mdc3.14025
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- Article
Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2877, doi. 10.1007/s10072-024-07453-4
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- Article
A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2881, doi. 10.1007/s10072-024-07397-9
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- Article
Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report.
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- 2024
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- Publication type:
- Correction Notice
Gait Variability as a Potential Motor Marker of Cerebellar Disease—Relationship between Variability of Stride, Arm Swing and Trunk Movements, and Walking Speed.
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- Sensors (14248220), 2024, v. 24, n. 11, p. 3476, doi. 10.3390/s24113476
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- Article
Therapeutic role of voltage-gated potassium channels in age-related neurodegenerative diseases.
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- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1406709
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- Article
Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.
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- PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011251
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- Article
New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5127, doi. 10.3390/ijms25105127
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- Article
Percutaneous Retrograde Trans-Gluteal Embolization of Type 2 Endoleak Causing Iliac Aneurysm Enlargement after Endovascular Repair: Case Report and Literature Review.
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- 2024
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- Publication type:
- Case Study
Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report.
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- 2024
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- Publication type:
- Case Study
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1110, doi. 10.1002/acn3.52027
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- Article
Is maintenance therapy warranted for recurrent mania in a woman with a positive family history of Huntington's disease?
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- Bipolar Disorders, 2024, v. 26, n. 3, p. 300, doi. 10.1111/bdi.13420
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- Article
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. e43, doi. 10.1093/brain/awae052
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- Article
More than 185 CAG repeats: a point of no return in Huntington's disease biology.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1601, doi. 10.1093/brain/awae105
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- Article
A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1784, doi. 10.1093/brain/awae063
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- Article
PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1273, doi. 10.1007/s10815-024-03105-w
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- Publication type:
- Article
Abnormal vestibular-evoked myogenic potentials as a risk factor for unpredicted falls in spinocerebellar ataxia: a preliminary study.
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- Journal of Neurology, 2024, v. 271, n. 5, p. 2539, doi. 10.1007/s00415-024-12195-6
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- Article
Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America.
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- Journal of Veterinary Internal Medicine, 2024, v. 38, n. 3, p. 1808, doi. 10.1111/jvim.17049
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- Article
FUNKCJONOWANIE POWIĄZAŃ LEKSYKALNYCH U OSÓB Z CHOROBAMI NEURODEGENERACYJNYMI. DWA STUDIA PRZYPADKÓW: PACJENT Z ATAKSJĄ RDZENIOWO-MÓŻDŻKOWĄ TYPU 1 (SCA-1) ORAZ PACJENT Z CHOROBĄ PARKINSONA (CH. P.).
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- Linguistic Guide / Poradnik Jezykowy, 2024, v. 813, n. 4, p. 7, doi. 10.33896/PorJ.2024.4.1
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- Article
Tongue Protrusion and Feeding Dystonia Can Develop in PPP2R2B‐Related Spinocerebellar Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 578, doi. 10.1002/mdc3.14014
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- Publication type:
- Article
Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1379366
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- Publication type:
- Article
AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4354, doi. 10.3390/ijms25084354
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- Article
Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59187-0
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- Article
Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06066-z
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- Article
Dietary fasting and time-restricted eating in Huntington's disease: therapeutic potential and underlying mechanisms.
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- Translational Neurodegeneration, 2024, v. 13, n. 1, p. 1, doi. 10.1186/s40035-024-00406-z
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- Article
Hyperbaric Oxygen Therapy Attenuated the Motor Coordination and Cognitive Impairment of Polyglutamine Spinocerebellar Ataxia SCA17 Mice.
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- Cerebellum, 2024, v. 23, n. 2, p. 401, doi. 10.1007/s12311-023-01548-y
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- Publication type:
- Article
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
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- Cerebellum, 2024, v. 23, n. 2, p. 678, doi. 10.1007/s12311-023-01540-6
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- Article
A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.
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- Cerebellum, 2024, v. 23, n. 2, p. 702, doi. 10.1007/s12311-023-01554-0
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- Publication type:
- Article
Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.
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- Cerebellum, 2024, v. 23, n. 2, p. 833, doi. 10.1007/s12311-023-01584-8
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- Article
Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).
- Published in:
- 2024
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- Case Study
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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- Article
Editorial: Women in neurodegeneration.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1388520
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- Article