Works about CEREBELLAR ataxia
Results: 1986
A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.
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- Journal of International Advanced Otology, 2025, v. 21, n. 1, p. 1, doi. 10.5152/iao.2025.241648
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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
Clinical features of autoimmune cerebellar ataxia related to neuronal antibodies.
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- Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1497695
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- Article
Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1511, doi. 10.3390/ijms26041511
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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
A Case Report of Plasmapheresis in Paraneoplastic Cerebellar Ataxia Associated With Anti-Tr Antibody.
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- Therapeutic Apheresis & Dialysis, 2006, v. 10, n. 1, p. 90, doi. 10.1111/j.1744-9987.2006.00348.x
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- Article
A Case Report of Plasma Exchange Therapy in Non-paraneoplastic Cerebellar Ataxia Associated with Anti-Yo Antibody.
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- Therapeutic Apheresis & Dialysis, 2004, v. 8, n. 6, p. 500, doi. 10.1111/j.1774-9987.2004.00198.x
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- Article
Procedure for the quantitative evaluation of motor disturbances in cerebellar ataxic patients.
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- 2005
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- journal article
Temporal disruption of upper-limb anticipatory postural adjustments in cerebellar ataxic patients.
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- Experimental Brain Research, 2015, v. 233, n. 1, p. 197, doi. 10.1007/s00221-014-4103-x
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- Article
Turning strategies in patients with cerebellar ataxia.
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- Experimental Brain Research, 2012, v. 222, n. 1/2, p. 65, doi. 10.1007/s00221-012-3197-2
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- Article
Linear and angular control of circular walking in healthy older adults and subjects with cerebellar ataxia.
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- Experimental Brain Research, 2012, v. 219, n. 1, p. 151, doi. 10.1007/s00221-012-3074-z
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- Publication type:
- Article
Feedforward postural muscle modes and multi-mode coordination in mild cerebellar ataxia.
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- Experimental Brain Research, 2011, v. 210, n. 1, p. 153, doi. 10.1007/s00221-011-2613-3
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- Article
The influence of knee rigidity on balance corrections: a comparison with responses of cerebellar ataxia patients.
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- Experimental Brain Research, 2008, v. 187, n. 2, p. 181, doi. 10.1007/s00221-008-1292-1
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- Article
Locomotion through apertures when wider space for locomotion is necessary: adaptation to artificially altered bodily states.
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- Experimental Brain Research, 2006, v. 175, n. 1, p. 50, doi. 10.1007/s00221-006-0525-4
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- Article
Microvascular decompression for trigeminal neuralgia attributable to the vertebrobasilar artery: decompression technique and significance of separation from the nerve root.
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- Acta Neurochirurgica, 2021, v. 163, n. 4, p. 1037, doi. 10.1007/s00701-020-04563-8
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- Article
The genetic architecture of aniridia and Gillespie syndrome.
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- Human Genetics, 2019, v. 138, n. 8/9, p. 881, doi. 10.1007/s00439-018-1934-8
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- Article
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
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- Human Genetics, 2018, v. 137, n. 11/12, p. 911, doi. 10.1007/s00439-018-1952-6
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- Article
The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
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- Human Genetics, 2018, v. 137, n. 2, p. 111, doi. 10.1007/s00439-017-1862-z
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- Article
iSUMOK-PseAAC: prediction of lysine sumoylation sites using statistical moments and Chou’s PseAAC.
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- PeerJ, 2021, p. 1, doi. 10.7717/peerj.11581
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- Article
Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.
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- Neurological Sciences, 2025, v. 46, n. 1, p. 469, doi. 10.1007/s10072-024-07761-9
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- Article
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.
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- Neurological Sciences, 2025, v. 46, n. 1, p. 437, doi. 10.1007/s10072-024-07676-5
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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
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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- Publication type:
- Article
Cerebellar ataxia and primary Sjogren's syndrome without cerebellar degeneration: a case report.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2919, doi. 10.1007/s10072-024-07333-x
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- Publication type:
- Article
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1515, doi. 10.1007/s10072-023-07178-w
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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
Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
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- Neurological Sciences, 2023, v. 44, n. 10, p. 3495, doi. 10.1007/s10072-023-06851-4
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- Article
Italian cross-cultural adaptation of the patient-reported outcome measure of ataxia.
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- Neurological Sciences, 2023, v. 44, n. 8, p. 2773, doi. 10.1007/s10072-023-06714-y
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- Article
Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC.
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- Neurological Sciences, 2023, v. 44, n. 5, p. 1769, doi. 10.1007/s10072-023-06688-x
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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
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
Anti-Tr/DNER antibody–associated cerebellar ataxia: three rare cases report and literature review.
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- Neurological Sciences, 2023, v. 44, n. 1, p. 397, doi. 10.1007/s10072-022-06389-x
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- Article
Eye movement abnormalities in neurodegenerative langerhans cell histiocytosis.
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- Neurological Sciences, 2022, v. 43, n. 11, p. 6539, doi. 10.1007/s10072-022-06180-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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- Publication type:
- journal 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
Late-onset cobalamin C disease presenting with acute cerebellar ataxia.
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- 2021
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- Publication type:
- Letter
A narrative review on non-invasive stimulation of the cerebellum in neurological diseases.
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- 2021
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- Publication type:
- journal article
Paraneoplastic cerebellar degeneration as a presenting manifestation of non-Hodgkin's lymphoma.
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- Neurological Sciences, 2021, v. 42, n. 6, p. 2523, doi. 10.1007/s10072-021-05046-z
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- Publication type:
- Article
A serial SPECT-CT study in a celiac disease patient with cerebellar ataxia and psychiatric symptoms.
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- Neurological Sciences, 2021, v. 42, n. 4, p. 1545, doi. 10.1007/s10072-020-04908-2
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- Publication type:
- Article
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
Hyperkinetic manifestations in superficial siderosis: evidence for pathogenic network disruption.
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- Neurological Sciences, 2021, v. 42, n. 2, p. 719, doi. 10.1007/s10072-020-04771-1
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- Publication type:
- Article
NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
- Published in:
- 2020
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- Publication type:
- Letter
A case of acute cerebellar ataxia with two possible etiologies: viral cerebellitis and paraneoplastic antibody-positive ovarian cancer.
- Published in:
- 2020
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- Publication type:
- Letter
Reversible cerebellar MRI hyperintensities and ataxia associated with hypomagnesemia: a case report with review of the literature.
- Published in:
- 2020
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- Publication type:
- Case Study
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
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
- Published in:
- 2019
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- Publication type:
- Case Study
Degenerative and acquired sporadic adult onset ataxia.
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- 2019
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- Publication type:
- journal article
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report.
- Published in:
- 2019
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- Publication type:
- Case Study
Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.
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- 2018
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- Publication type:
- Case Study
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.
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- Neurological Sciences, 2018, v. 39, n. 11, p. 1977, doi. 10.1007/s10072-018-3528-6
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- Publication type:
- Article