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Spatiotemporal Gait Analysis of Patients with Spinocerebellar Ataxia Types 3 and 10 Using Inertial Measurement Units: A Comparative Study.
- Published in:
- Cerebellum, 2024, v. 23, n. 5, p. 2109, doi. 10.1007/s12311-024-01709-7
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- Article
The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model.
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- Cerebellum, 2024, v. 23, n. 5, p. 2082, doi. 10.1007/s12311-024-01708-8
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- Publication type:
- Article
Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia.
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- Cerebellum, 2024, v. 23, n. 5, p. 2095, doi. 10.1007/s12311-024-01707-9
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- Publication type:
- Article
Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.
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- Cerebellum, 2024, v. 23, n. 5, p. 2193, doi. 10.1007/s12311-024-01705-x
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- Publication type:
- Article
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
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- Cerebellum, 2024, v. 23, n. 5, p. 2152, doi. 10.1007/s12311-024-01703-z
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- Publication type:
- Article
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.
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- Cerebellum, 2024, v. 23, n. 5, p. 2012, doi. 10.1007/s12311-024-01700-2
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- Publication type:
- Article
Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia.
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- Cerebellum, 2024, v. 23, n. 5, p. 2028, doi. 10.1007/s12311-024-01697-8
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- Publication type:
- Article
Single-Session Cerebellar Transcranial Direct Current Stimulation Improves Postural Stability and Reduces Ataxia Symptoms in Spinocerebellar Ataxia.
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- Cerebellum, 2024, v. 23, n. 5, p. 1993, doi. 10.1007/s12311-024-01696-9
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- Publication type:
- Article
Effect of Regional Brain Activity Following Repeat Transcranial Magnetic Stimulation in SCA3: A Secondary Analysis of a Randomized Clinical Trial.
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- Cerebellum, 2024, v. 23, n. 5, p. 1923, doi. 10.1007/s12311-024-01689-8
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- Publication type:
- Article
Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers.
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- Cerebellum, 2024, v. 23, n. 5, p. 1882, doi. 10.1007/s12311-024-01679-w
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- Publication type:
- Article
Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype.
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- Cerebellum, 2024, v. 23, n. 5, p. 1839, doi. 10.1007/s12311-024-01674-1
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- Publication type:
- Article
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.
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- 2024
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- Publication type:
- Case Study
A novel KCNC3 gene variant in the voltage-dependent Kv3.3 channel in an atypical form of SCA13 with dominant central vertigo.
- Published in:
- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1441257
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- Publication type:
- Article
Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10841, doi. 10.3390/ijms251910841
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- Publication type:
- Article
Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10750, doi. 10.3390/ijms251910750
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- Publication type:
- Article
Small Molecules Inducing Autophagic Degradation of Expanded Polyglutamine Protein through Interaction with Both Mutant ATXN3 and LC3.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10707, doi. 10.3390/ijms251910707
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- Publication type:
- Article
Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1153, doi. 10.1002/mdc3.14127
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- Publication type:
- Article
Correction to "Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology".
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1177, doi. 10.1002/mdc3.14058
- Publication type:
- Article
Ensemble of HMMs for Sequence Prediction on Multivariate Biomedical Data.
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- BioMedInformatics, 2024, v. 4, n. 3, p. 1672, doi. 10.3390/biomedinformatics4030090
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- Publication type:
- Article
GR.2 A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia.
- Published in:
- 2023
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- Publication type:
- Abstract
CNSF 2023 Society Prize Winners.
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- Canadian Journal of Neurological Sciences, 2023, v. 50, p. S98, doi. 10.1017/cjn.2023.66
- Publication type:
- Article
Anticipation in Genetic Diseases: Moving Beyond Nucleotide Repeat Disorders.
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- 2022
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- Publication type:
- Editorial
A Variant of Alternating Skew Deviation in GAD65 Antibody-Associated Cerebellar Ataxia.
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- 2022
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- Publication type:
- Letter
Genetik der spinozerebellären Ataxien.
- Published in:
- Der Nervenarzt, 2013, v. 84, n. 2, p. 137, doi. 10.1007/s00115-012-3637-z
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- Publication type:
- Article
Phonoarticulation in spinocerebellar ataxia type 3.
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- European Archives of Oto-Rhino-Laryngology, 2017, v. 274, n. 2, p. 1139, doi. 10.1007/s00405-016-4240-x
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- Publication type:
- Article
CANVAS синдром – първи генетично доказан случай в България.
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- Medical Review / Meditsinski Pregled, 2023, v. 59, n. 1, p. 58
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- Publication type:
- Article
Modifiers of (CAG) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.
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- Human Genetics, 2014, v. 133, n. 10, p. 1311, doi. 10.1007/s00439-014-1467-8
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- Publication type:
- Article
Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.
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- Human Genetics, 2012, v. 131, n. 4, p. 625, doi. 10.1007/s00439-011-1101-y
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- Publication type:
- Article
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00518-9
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- Publication type:
- Article
Head-to-head comparison of 6 plasma biomarkers in early multiple system atrophy.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00481-5
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- Publication type:
- Article
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds.
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- Acta Veterinaria Scandinavica, 2015, v. 57, n. 1, p. 1, doi. 10.1186/s13028-015-0115-1
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- Publication type:
- Article
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01073-7
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- Publication type:
- Article
The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-00955-0
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- Publication type:
- Article
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00975-w
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- Publication type:
- 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.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2466
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- Publication type:
- Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
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- Publication type:
- 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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- Publication type:
- Article
Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 11, p. 2169, doi. 10.3390/life13112169
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- Publication type:
- Article
RNA Foci Formation in a Retinal Glial Model for Spinocerebellar Ataxia Type 7.
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- Life (2075-1729), 2023, v. 13, n. 1, p. 23, doi. 10.3390/life13010023
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- Publication type:
- Article
Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family.
- Published in:
- Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 262, doi. 10.3390/jpm10040262
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- Publication type:
- 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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- Publication type:
- Article
Spinocerebellar ataxia 2 presenting as Parkinsonism: two families report and literatures review.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2022, v. 22, n. 8, p. 723, doi. 10.3969/j.issn.1672-6731.2022.08.012
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- Publication type:
- Article
Clinical and imaging features of a pedigree with spinocerebellar ataxia type 6.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 6, p. 478, doi. 10.3969/j.issn.1672-6731.2021.06.009
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- Publication type:
- Article
A pedigree of spinocerebellar ataxia type 2.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 3, p. 216, doi. 10.3969/j.issn.1672-6731.2019.03.013
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- Publication type:
- Article
Capillary electrophoresis fragment analysis and clone sequencing in detection of dynamic mutations of spinocerebellar ataxia.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 3, p. 192, doi. 10.3969/j.issn.1672-6731.2018.03.008
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- Publication type:
- Article
RNA Expression Profile and Potential Biomarkers in Patients With Spinocerebellar Ataxia Type 3 From Mainland China.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00566
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- Publication type:
- Article
Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00740
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- Publication type:
- Article
Melanoma arising in a patient with ataxia‐telangiectasia: A call for full skin examinations in this patient population.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 4, p. 767, doi. 10.1111/pde.14200
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- Publication type:
- Article
Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome.
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- Pediatric Dermatology, 2019, v. 36, n. 3, p. 400, doi. 10.1111/pde.13779
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- Publication type:
- Article
Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease.
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- Clinical Interventions in Aging, 2020, v. 15, p. 285, doi. 10.2147/CIA.S240314
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- Publication type:
- Article