Found: 13
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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 2, p. 1071, doi. 10.1007/s10072-021-05462-1
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- 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
The "crab sign": an imaging feature of spinocerebellar ataxia type 48.
- Published in:
- Neuroradiology, 2020, v. 62, n. 9, p. 1095, doi. 10.1007/s00234-020-02427-7
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- Article
Ultrasound Aspects of Neurotoxicity‐Mediated Sciatic Nerve Injury After Intramuscular Ketorolac Injection.
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- Journal of Ultrasound in Medicine, 2020, v. 39, n. 9, p. 1877, doi. 10.1002/jum.15277
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- Publication type:
- Article
Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 1, p. 26, doi. 10.3390/brainsci13010026
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- Publication type:
- Article
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 246, doi. 10.3390/brainsci11020246
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- Article
Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies.
- Published in:
- 2018
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- Publication type:
- Image
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 3, p. 1476, doi. 10.1007/s00415-021-10712-5
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- Publication type:
- Article
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00394
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- Article
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study.
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- Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00082
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- Publication type:
- Article
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia.
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- European Journal of Neurology, 2022, v. 29, n. 2, p. 564, doi. 10.1111/ene.15161
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- Publication type:
- Article
A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
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- European Journal of Neurology, 2021, v. 28, n. 8, p. 2784, doi. 10.1111/ene.14868
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- Publication type:
- Article
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
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- Neurogenetics, 2020, v. 21, n. 4, p. 279, doi. 10.1007/s10048-020-00620-7
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- Article