Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang +16 more
wiley +1 more source
Extended visuomotor experience with inverted movements can overcome the inversion effect in biological motion perception. [PDF]
Sci Rep, 2022 Wang XM +5 more
europepmc +1 more source
Biological Motion as an Innate Perceptual Mechanism Driving Social Affiliation
Current Biology, 2018 Johannes Larsch, H. Baier
semanticscholar +1 more source
Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Annals of Clinical and Translational Neurology, EarlyView.Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz +9 more
wiley +1 more source
Biological motion as a cue for the perception of size
, 2003 Daniel Jokisch, Nikolaus F. Troje
openalex +1 more source
Brief Report: Recognition of Emotional and Non-emotional Biological Motion in Individuals with Autistic Spectrum Disorders [PDF]
, 2007 B. Hubert +6 more
openalex +1 more source
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi +8 more
wiley +1 more source
Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe +15 more
wiley +1 more source
Attentional influences on neural processing of biological motion in typically developing children and those on the autism spectrum. [PDF]
Mol Autism, 2022 Knight EJ +5 more
europepmc +1 more source