Results 61 to 70 of about 236,137 (343)
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
Striatal Vulnerability in Huntington’s Disease: Neuroprotection Versus Neurotoxicity
Brain Sciences, 2017 Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat encoding an abnormally long polyglutamine tract (PolyQ) in the huntingtin (Htt) protein.
Ryoma Morigaki, Satoshi Goto
doaj +1 more source
Additional file 3: of Meta-analysis of risk factors for Parkinsonâ s disease dementia
, 2016 Details of factors not included in the meta-analysis. This file provided data of risk factors for Parkinsonâ s disease dementia that were mentioned in literature, but were not included in the meta-analysis due to limited number of studies or differences in study design. (DOCX 93 kb)
Yaqian Xu, Yang, Jing, Huifang Shang
openaire +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
Asymmetric Dopaminergic Degeneration and Attentional Resources in Parkinson’s Disease
Frontiers in Neuroscience, 2018 Background: Attention is crucial to voluntary perform actions in Parkinson’s disease (PD), allowing patients to bypass the impaired habitual motor control.
Paola Ortelli +4 more
doaj +1 more source
DomainScope: A disease network based on protein domain connections [PDF]
arXiv, 2019 Protein domains are highly conserved functional units of proteins. Because they carry functionally significant information, the majority of the coding disease variants are located on domains. Additionally, domains are specific units of the proteins that can be targeted for drug delivery purposes.
arxiv
, 2015 Additional file 1. Detail T1-weighted structural MRI image processing procedures.
Wei-Che Lin +12 more
openaire +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
Toxins, 2020 We appreciate the commentary on our article by Foster and Beard, both employees of Ipsen [...]
Steven Bellows, Joseph Jankovic
doaj +1 more source
Correlation-based Discovery of Disease Patterns for Syndromic Surveillance [PDF]
arXiv, 2021 Early outbreak detection is a key aspect in the containment of infectious diseases, as it enables the identification and isolation of infected individuals before the disease can spread to a larger population. Instead of detecting unexpected increases of infections by monitoring confirmed cases, syndromic surveillance aims at the detection of cases with
arxiv