Progression of striatocortical dysfunction in Parkinson’s disease: a longitudinal combined PET and fMRI study
Objective: To investigate the longitudinal progression of striatal dopaminergic dysfunction and its consequences on functional connectivity (FC) networks and clinical progression in Parkinson's disease (PD)…Patient characteristics and real-world use of botulinum toxins for treatment of cervical dystonia and blepharospasm
Objective: To describe the characteristics of patients with cervical dystonia (CD) or blepharospasm (BLEPH) treated with botulinum toxin (BoNT) in routine care using claims data…The development of a multiplex allele specific PCR to improve the diagnostic yield of NGS in the GBA gene screening
Objective: Our aim is to offer a complete and reliable diagnostic service excluding false negative. Background: Heterozygous variants in the GBA gene are the most…Novel modifiers of heterozygous pathogenic Parkin variant penetrance in Parkinson’s disease
Objective: To identify novel genes and pathways acting as modifiers of pathogenic Parkin variant (PV) penetrance in affected compared to unaffected carriers of heterozygous Parkin PVs…Atypical progression of motor symptoms in Facio-Scapulo-Humeral Dystrophy: clinical worsening or overlap?
Objective: This case highlights the importance of considering possible overlaps with PSP and other neurodegenerative diseases. Background: Facio-Scapulo-Humeral Dystrophy is a common muscular dystrophy featuring…What change to expect in duration of benefit per dose when switching from IR CD-LD to IPX203 (ER CD-LD)
Objective: To investigate if duration of benefit (“Good On” time) per dose during immediate-release (IR) carbidopa-levodopa (CD-LD) treatment predicts response to IPX203 conversion. Background: Levodopa’s…Circuit-based targeting for closed-loop deep brain stimulation for Tourette Syndrome
Objective: To assess the safety, feasibility, neurophysiology and neuroimaging-driven targeting of the centromedian thalamus (CM) and anterior globus pallidus internus (aGPi) for deep brain stimulation…Closed-loop gait improvement in Parkinson’s Disease
Objective: The aim of this study was to measure gait parameters of patients with Parkinson’s Disease (PD) in everyday life situations and improve hypokinetic gait…Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson’s disease.The AMBITIOUS Study Protocol
Objective: To determine in Parkinson’s disease (PD) patients carrying GBA mutation the role of Ambroxol (ABX) on the progression of cognitive performance (primary aim), motor…The neurological manifestations of PHARC syndrome: a systematic review
Objective: To provide a systematic review of the neurological manifestations of the PHARC syndrome. Background: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC) syndrome…
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