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Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Pathogenic variants in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher's disease (GD) are associated with Parkinson's disease (PD). To investigate the sequence variants,Expand
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Coordination between posture and movement in a bimanual load lifting task: putative role of a medial frontal region including the supplementary motor area
SummaryThe aim of the present experimental series was to investigate the role of the medial frontal region including the supplementary motor area in the coordination between posture and movement in aExpand
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Impairment of posturo-kinetic co-ordination during initiation of forward oriented stepping movements in parkinsonian patients.
In order to differentiate between a specific impairment affecting gait initiation and a non-specific deficit in the postural adjustment which occurs prior to any forward oriented stepping movement, 3Expand
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Acquisition of anticipatory postural adjustments in a bimanual load-lifting task: normal and pathological aspects
Abstract Anticipatory adjustments of forearm posture are associated with a voluntary load-lifting movement in bimanual load-lifting tasks. Three aspects of these adjustments are analyzed: their goal,Expand
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From micrographia to Parkinson's disease dysgraphia
Micrographia, an abnormal reduction in writing size, is a specific behavioral deficit associated with Parkinson's disease (PD). In recent years, the availability of graphic tablets has made itExpand
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Disease Severity and Progression in Progressive Supranuclear Palsy and Multiple System Atrophy: Validation of the NNIPPS – PARKINSON PLUS SCALE
Background The Natural History and Neuroprotection in Parkinson Plus Syndromes (NNIPPS) study was a large phase III randomized placebo-controlled trial of riluzole in Progressive Supranuclear PalsyExpand
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Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
Objective: Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for geneticExpand
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Magnetic resonance imaging evidence of decreased putamenal iron content in idiopathic Parkinson's disease.
OBJECTIVE To determine the changes in basal ganglia iron content associated with various stages of idiopathic Parkinson's disease. DESIGN Prospective magnetic resonance imaging study using a 2-TExpand
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Repetitive Behaviours in Patients with Gilles de la Tourette Syndrome: Tics, Compulsions, or Both?
Background Repetitive behaviours (RB) in patients with Gilles de la Tourette syndrome (GTS) are frequent. However, a controversy persists whether they are manifestations of obssessive-compulsiveExpand
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Modulation of dysarthropneumophonia by low‐frequency STN DBS in advanced Parkinson's disease
Parkinsonian dysarthria (as typically characterized by hypophonia, monotony of pitch, and rhythm abnormalities) is often accompanied by gait disturbances. The long‐term effect of subthalamic nucleusExpand
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