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Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
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- Journal of Internal Medicine, 2024, v. 296, n. 3, p. 234, doi. 10.1111/joim.13815
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- Article
Beneficial effects of miR-132/212 deficiency in the zQ175 mouse model of Huntington's disease.
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- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1421680
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- Article
The 5HT4R agonist velusetrag efficacy on neuropathic chronic intestinal pseudo-obstruction in PrP-SCA7-92Q transgenic mice.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1411642
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- Article
"I Do Not Know How You Feel and How I Feel About That": Mentalizing Impairments in Machado-Joseph Disease.
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- Cerebellum, 2024, v. 23, n. 4, p. 1265, doi. 10.1007/s12311-023-01536-2
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- Article
Progression of Retinal Ganglion Cell and Nerve Fiber Layer Loss in Spinocerebellar Ataxia 3 Patients.
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- Cerebellum, 2024, v. 23, n. 4, p. 1348, doi. 10.1007/s12311-023-01634-1
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- Article
Scale for Ocular Motor Disorders in Ataxia (SODA) in Patients with Multiple System Atrophy.
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- Cerebellum, 2024, v. 23, n. 4, p. 1369, doi. 10.1007/s12311-023-01653-y
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- Article
Early-Life Social Determinants of SCA6 Age at Onset, Severity, and Progression.
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- Cerebellum, 2024, v. 23, n. 4, p. 1449, doi. 10.1007/s12311-023-01655-w
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- Article
Serum S100β Levels Are Linked with Cognitive Decline and Peripheral Inflammation in Spinocerebellar Ataxia Type 2.
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- Cerebellum, 2024, v. 23, n. 4, p. 1509, doi. 10.1007/s12311-024-01665-2
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- Article
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
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- Cerebellum, 2024, v. 23, n. 4, p. 1521, doi. 10.1007/s12311-024-01659-0
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- Article
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
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- Cerebellum, 2024, v. 23, n. 4, p. 1566, doi. 10.1007/s12311-023-01625-2
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- Article
Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.
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- 2024
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- Case Study
A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia.
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- 2024
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- Case Study
Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia.
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- 2024
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- Correction Notice
The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.
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- Cerebellum, 2024, v. 23, n. 4, p. 1727, doi. 10.1007/s12311-023-01654-x
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- Article
Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease—Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG) n Repeat Expansion.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8073, doi. 10.3390/ijms25158073
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- Article
Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8074, doi. 10.3390/ijms25158074
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- Article
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.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8190, doi. 10.3390/ijms25158190
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- Article
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort.
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- Journal of Neurology, 2024, v. 271, n. 8, p. 5478, doi. 10.1007/s00415-024-12506-x
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- Article
Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 1041, doi. 10.1002/mdc3.14128
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- Article
Co-existence of Myelin Oligodendrocyte Glycoprotien Antibody-associated Disease (MOGAD) and Spinocerebellar Ataxia type 1 (SCA1): A case report.
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- 2024
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- Publication type:
- Letter
Video-Based Kinematic Analysis of Movement Quality in a Phase 3 Clinical Trial of Troriluzole in Adults with Spinocerebellar Ataxia: A Post Hoc Analysis.
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- Neurology & Therapy, 2024, v. 13, n. 4, p. 1287, doi. 10.1007/s40120-024-00625-6
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- Publication type:
- Article
Ataxin-2: a powerful RNA-binding protein.
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- Discover Oncology, 2024, v. 15, n. 1, p. 1, doi. 10.1007/s12672-024-01158-y
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- Article
NEURODEGENERATIVE DISEASES (ND) –CHALLENGES AND PERSPECTIVES IN MOLECULAR APPROACH TREATMENT.
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- Genetics & Applications, 2024, p. 2
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- Article
SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1879, doi. 10.1002/acn3.52094
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- Article
Spinocerebellar ataxia type 2 with prominent manifestation of dystonia: one case report.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2024, v. 24, n. 7, p. 579
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- Article
Production of Spinocerebellar Ataxia Type 3 Model Mice by Intravenous Injection of AAV-PHP.B Vectors.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7205, doi. 10.3390/ijms25137205
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- Article
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
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- Journal of Neurology, 2024, v. 271, n. 7, p. 3743, doi. 10.1007/s00415-024-12475-1
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- Article
RFC1-related disorder presenting recurrent syncope.
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- Journal of Neurology, 2024, v. 271, n. 7, p. 4635, doi. 10.1007/s00415-024-12231-5
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- Article
Expanding the Phenotypic Variability of PMPCA‐Related Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 894, doi. 10.1002/mdc3.14057
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- Article
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
Successful neurorehabilitation 2 years post‐COVID‐19 cerebellitis.
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- PM & R: Journal of Injury, Function & Rehabilitation, 2024, v. 16, n. 7, p. 794, doi. 10.1002/pmrj.13061
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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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- 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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- Publication type:
- 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
Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2466
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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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- Publication type:
- 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