A 12-month, 2-arm, 2-period, randomized, controlled trial of a digital solution for the management of Parkinson’s disease (PD): Rationale and study design
Objective: To collect evidence to support the use of a digital solution to improve health outcomes in PD through remote, timely and appropriate drug adjustments,…Novel THAP1 missense mutation leading to focal and segmental dystonia
Objective: We have identified a novel heterozygous missense mutation in THAP1 (DYT6 locus) in a patient suffering from craniocervical and upper limb dystonia. We describe…Familial SPG17/distal hereditary motor neuropathy type V– Complicated hereditary spastic paraplegia with many faces
Objective: We present the clinical and genetic results of a SPG17 family with a vast intrafamilial phenotype from subclinical signs to a severe and rapidly…Reduced thalamo-cortical functional connectivity in asymptomatic LRRK2 mutation carriers
Objective: To characterize MRI functional patterns during resting state in asymptomatic LRRK2 mutation carriers. Background: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are…Investigation into the genetic etiology in South African Parkinson’s disease patients
Objective: To investigate the genetic etiology in a group of South Africa Parkinson's disease (PD) patients. Background: The genetic etiology of PD is complex and…Genetic analysis of CHCHD2 gene in Parkinson’s disease in a Taiwanese population
Objective: To evaluate the genetic mutations of CHCHD2 gene in Taiwanese Parkinson's disease patients. Background: A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain–containing…Gene network driven probable drug target identification: An in-silico study on Parkinson’s disease
Objective: Identification of probable drug targets. Background: Parkinson's disease, a motor system disorder, which manifests due to the loss of brain cells that produces dopamine.…A novel haplotype in LRRK2 is associated with risk for multiple system atrophy in the Korean population
Objective: To (1) validate past results by investigating the role of LRRK2 exonic variants in an equivalent Korean series with MSA and (2) identify novel…Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation
Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…Integrity of the superior longitudinal fascicle and its relationship with anticipatory postural adjustments in people with Parkinson’s disease and freezing of gait
Objective: To assess the integrity of the Superior Longitudinal Fascicle (SLF) and its relationship with the Anticipatory Postural Adjustments (APAs) of step initiation in people…
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