Works matching DE "SPINOCEREBELLAR ataxia"
Results: 1745
Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10.
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- PLoS ONE, 2025, v. 20, n. 3, p. 1, doi. 10.1371/journal.pone.0319505
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- Article
Prediction of protein interactions with function in protein (de-)phosphorylation.
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- PLoS ONE, 2025, v. 20, n. 3, p. 1, doi. 10.1371/journal.pone.0319084
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- Article
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
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- Brain Sciences (2076-3425), 2025, v. 15, n. 2, p. 156, doi. 10.3390/brainsci15020156
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- Article
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.
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- Genes, 2025, v. 16, n. 2, p. 169, doi. 10.3390/genes16020169
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- Article
Reduced cerebellar rhythm by climbing fiber denervation is linked to motor rhythm deficits in mice and ataxia severity in patients.
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- Science Translational Medicine, 2025, v. 17, n. 787, p. 1, doi. 10.1126/scitranslmed.adk3922
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- Article
Using prediction errors to drive saccade adaptation: the implicit double-step task.
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- Experimental Brain Research, 2012, v. 222, n. 1/2, p. 55, doi. 10.1007/s00221-012-3195-4
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- Article
Modest Reduction in CAG Repeat Length Rescues Motor Deficits but Not Purkinje Cell Pathology and Gliosis in Spinocerebellar Ataxia Type 1 Mice.
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- Neuroglia, 2023, v. 4, n. 1, p. 52, doi. 10.3390/neuroglia4010005
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- Article
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.
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- Human Genetics, 2024, v. 143, n. 11, p. 1363, doi. 10.1007/s00439-024-02698-7
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- Article
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)<sub>n</sub> insertion in spinocerebellar ataxia type 37.
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- Human Genetics, 2024, v. 143, n. 3, p. 211, doi. 10.1007/s00439-024-02644-7
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- Article
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
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- Human Genetics, 2023, v. 142, n. 8, p. 1055, doi. 10.1007/s00439-023-02572-y
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- Article
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
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- Human Genetics, 2021, v. 140, n. 11, p. 1593, doi. 10.1007/s00439-021-02279-y
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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
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
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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- Correction Notice
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
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.
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- Neurological Sciences, 2024, v. 45, n. 3, p. 1283, doi. 10.1007/s10072-023-07104-0
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- Article
First case of autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) with confirmed DMNT1 gene mutation in Spain. Review of the DMNT1 mutation syndromes.
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- Neurological Sciences, 2024, v. 45, n. 2, p. 791, doi. 10.1007/s10072-023-07094-z
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- Article
Three Hertz postural leg tremor impairs posture maintenance in multiple system atrophy-cerebellar type.
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- Neurological Sciences, 2024, v. 45, n. 2, p. 601, doi. 10.1007/s10072-023-07036-9
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- Article
Frontotemporal dementia phenotype in late-onset Huntington disease without chorea.
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- Neurological Sciences, 2023, v. 44, n. 9, p. 3327, doi. 10.1007/s10072-023-06823-8
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- Article
Electrophysiological and neuropsychological assessment of cognition in spinocerebellar ataxia type 1 patients: a pilot study.
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- Neurological Sciences, 2023, v. 44, n. 5, p. 1597, doi. 10.1007/s10072-022-06597-5
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- Article
A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report.
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- Neurological Sciences, 2023, v. 44, n. 5, p. 1795, doi. 10.1007/s10072-022-06546-2
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- Article
Two cases of Huntington's disease unmasked by the COVID-19 pandemic.
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- Neurological Sciences, 2023, v. 44, n. 3, p. 811, doi. 10.1007/s10072-022-06564-0
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- Article
Considering a new clinical presentation of the anti-Tr/DNER antibody-associated cerebellar ataxia.
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- Neurological Sciences, 2023, v. 44, n. 3, p. 1099, doi. 10.1007/s10072-022-06503-z
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- Article
Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations.
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- Neurological Sciences, 2023, v. 44, n. 1, p. 389, doi. 10.1007/s10072-022-06410-3
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- Article
Prominent lower motor neuron involvement in patients with intermediate-length CAG repeats in ATXN3 gene.
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- 2022
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- Publication type:
- Letter
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
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- Neurological Sciences, 2022, v. 43, n. 11, p. 6517, doi. 10.1007/s10072-022-06270-x
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- Article
Fluctuating ataxia caused by mitochondrial tRNA (Lys) gene m.8363G > A variant.
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- Neurological Sciences, 2022, v. 43, n. 11, p. 6589, doi. 10.1007/s10072-022-06246-x
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- Article
Correction to: Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro.
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- 2022
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- Correction Notice
Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA).
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- 2022
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- Publication type:
- Letter
Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.
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- Neurological Sciences, 2022, v. 43, n. 6, p. 3989, doi. 10.1007/s10072-022-06005-y
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- Article
Assessment of gait and balance impairment in people with spinocerebellar ataxia using wearable sensors.
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- 2022
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- journal article
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
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- Neurological Sciences, 2021, v. 42, n. 12, p. 5365, doi. 10.1007/s10072-021-05538-y
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- Article
Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.
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- Neurological Sciences, 2021, v. 42, n. 12, p. 5195, doi. 10.1007/s10072-021-05204-3
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- Article
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
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- Neurological Sciences, 2021, v. 42, n. 11, p. 4741, doi. 10.1007/s10072-021-05463-0
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- Article
Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings.
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- 2021
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- Publication type:
- Letter
A case of novel CACNA1A mutation causing type 2 episodic ataxia.
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- 2021
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- Publication type:
- Case Study
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
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- Neurological Sciences, 2021, v. 42, n. 4, p. 1535, doi. 10.1007/s10072-020-04869-6
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- Article
Spinocerebellar ataxia type 48: last but not least.
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- 2021
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- Publication type:
- Letter
Spinocerebellar ataxia type 48: last but not least.
- Published in:
- 2021
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- Publication type:
- Letter
Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.
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- Neurological Sciences, 2021, v. 42, n. 2, p. 749, doi. 10.1007/s10072-020-04895-4
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- Article
Characteristics of very late-onset dentatorubro-pallidoluysian atrophy: the oldest onset case and review of literature.
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- 2021
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- Publication type:
- Letter
NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
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- 2020
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- Publication type:
- Letter
Spinocerebellar ataxia type 48: last but not least.
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- 2020
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- Publication type:
- journal article
Eye movement changes in autosomal dominant spinocerebellar ataxias.
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- Neurological Sciences, 2020, v. 41, n. 7, p. 1719, doi. 10.1007/s10072-020-04318-4
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- Article
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
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- 2020
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- journal article
First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene.
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- 2020
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- Publication type:
- Case Study
Highlights of the issue 4, 2020.
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- 2020
- Publication type:
- journal article
Late-onset Huntington's disease with 40-42 CAG expansion.
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- 2020
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- journal article
First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features.
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- 2020
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- Publication type:
- journal article