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Article
Hyposmia correlates with axial signs and gait disorder in Parkinson’s disease: an Italian Olfactory Identification Test study
Olfactory dysfunction is a non-motor symptom and an important biomarker of Parkinson’s disease (PD) because of its high prevalence (> 90%). Whether hyposmia correlates with motor symptoms is unclear. In the pr...
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Article
Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability
Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP) gene. A number of repeats higher than ...
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Article
Validation of the Hemifacial Spasm Grading Scale: a clinical tool for hemifacial spasm
To create an objective rating tool for hemifacial spasm (HFS) and validate it on a cohort of patients.
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Article
Levodopa-responsive breathing discomfort in Parkinson’s disease patients
In Parkinson’s disease (PD), respiratory disturbances have been reported and the effect of levodopa on respiratory function remains controversial. The objective of this study was to evaluate pulmonary function...
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Article
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes
Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5–10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. ...
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Article
The validation of an Italian version of the Freezing of Gait Questionnaire
Freezing of gait (FOG) is a common and disabling symptom in Parkinson’s disease (PD) and its staging is complex because of its episodic nature. Patient-reported assessments are essential in evaluating this dis...