Interval from onset of Parkinson disease to onset of motor and non-motor complications in Leucine-rich repeat kinase 2 (LRRK2) G2019S positive versus matched PD controls
Objective: To compare the latency between onset of Parkinson disease (PD) symptoms and onset of motor and non-motor complications of PD, between G2019S LRRK2 mutation…Genetic analysis of RAB39B mutations in early-onset and familial Parkinson’s Disease in a Taiwanese population.
Objective: To examine the genetic contribution of RAB39B to early-onset and familial PD in a Taiwanese population. Background: Loss of function mutations in RAB39B were…Genetic and pharmacological rescue of DJ-1 loss-of-function caused by a c.192G>C mutation in PARK7
Objective: In this study we investigate the cellular mechanism underlying the Parkinson’s disease (PD)-associated mutation c.192G>C in PARK7 and present a compound treatment that rescues…First Reported Case of Parkinsonism in a Patient with Argininosuccinate Lyase Deficiency
Objective: The purpose of this case report is to detail the phenotype of parkinsonism encountered in a patient with Argininosuccinate Lyase Deficiency (ASLD) that has…Absence of depression in de novo Parkinson’s disease: a benign motor phenotype?
Objective: This study aimed to assess the impact of early depression on motor deficits relative to the level of striatal dopaminergic depletion in patients with…Serum uric acid levels and freezing of gait in Parkinson’s disease
Objective: To investigate the relationship between serum Uric acid (UA) levels and freezing of gait (FOG) in Parkinson’s disease (PD). Background: UA is a natural…Leg Stereotypy Disorder: Clinical Characteristics and Prevalence
Objective: To describe phenomenology and prevalence of leg stereotypy disorder (LSD) Background: LSD is characterized chiefly by repetitive, rhythmical, stereotyped leg movement when sitting (Jankovic…Item Response Theory Analysis of the MDS-UPDRS Items
Objective: To investigate the measurement characteristics of the MDS-UPDRS using item response theory (IRT) approaches. Background: The MDS-UPDRS has become the most frequently used assessment…Genotype-Phenotype correlations and expansion of the molecular spectrum of AP4M1-related Hereditary Spastic Paraplegia
Objective: To identify possible novel variants in a HSP family from Greece. Background: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a…Efficacy and safety of incobotulinumtoxinA (inco/A) for essential tremor using kinematics-guided clinical decision support: A randomized, double-blind, placebo-controlled trial
Objective: To demonstrate improvement of arm tremor severity and hand function with kinematics-guided inco/A therapy Background: Botulinum neurotoxin A (BoNT-A) therapy of debilitating tremor symptoms…
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