Introducing the molecular subtyping of Progressive Supranuclear Palsy: a proof of concept
Objective: To enhance understanding of the molecular mechanisms underlying disease heterogeneity in Progressive supranuclear palsy (PSP) Background: PSP is a 4R-tauopathy characterised by subcortical pathology…Disease progression in multiple system atrophy: the value of clinical cohorts with long follow-up
Objective: To describe MSA progression according to the latent disease continuum and assess the value of long-term follow-up. Background: Although essential for therapeutic development, describing…DYT1 gene mutation: an atypical presentation with myoclonic dystonia
Objective: In the present work, we describe the case of a 54 years old man who presented a young-age onset (7-8 years old) of unilateral…miRNAs from blood serum as an early diagnostic biomarker for Parkinson’s disease: A study in an animal model
Objective: This work aims to elucidate miRNA-based biomarkers for the early stages of Parkinson`s Disease diagnosis in a chemically induced PD rat model. Background: The…Comparision of objective Parkinson’s disease monitoring systems and the interpretations of results
Objective: To examine the agreeement between two objective Parkinson’s disease (PD) monitoring systems (PKG and STAT-ON) and clinical information from a resident physician’s interview or…Detailed illustration of a Turkish patient with homozygous C19ORF12 mutation
Objective: To illustrate a rare Turkish patient with homozygous C19ORF12 mutation and discuss limitations regarding the current terminology and classification. Background: Neurodegeneration with brain iron…Adult onset cerebrotendinous xanthomatosis (CTX) with parkinsonism responding to bilateral subthalamic nucleus deep brain stimulation
Objective: To describe a young male diagnosed with cerebrotendinous xanthomatosis who responded favourably to subthalamic nucleus deep brain stimulation (STN-DBS). Background: Cerebrotendinous Xanthomatosis is an…Sex-Specific Association Between Plasma Vitamin D and Parkinson’s Disease: A Mendelian Randomization Study
Objective: To investigate whether there is a sex-specific causal relationship between plasma vitamin D levels and the risk of Parkinson's disease (PD). Background: Prior studies…Monocular Ocular Bobbling with Holmes Tremor Due to Ruptured Cavernoma
Objective: To describe a rare and unique manifestation of cavernoma-induced brain injury, specifically the occurrence of monocular ocular bobbing with unilateral Holmes tremor. It aims…Reconstruction of the dentato-rubro-thalamic tract based on the anatomy of the rubral wing
Objective: We investigated reconstructing the entire dentato-rubro-thalamic tract (DRT) by an anatomical “rubral wing”-based tractography and compare its correlation with clinical outcomes to those of…
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