Results 51 to 60 of about 78,321 (263)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Alzheimer’s disease brain contains tau fractions with differential prion-like activities
Acta Neuropathologica Communications, 2021 Neurofibrillary tangles (NFTs) made of abnormally hyperphosphorylated tau are a hallmark of Alzheimer’s disease (AD) and related tauopathies. Regional distribution of NFTs is associated with the progression of the disease and has been proposed to be a ...
Longfei Li +13 more
doaj +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
Barriers to Health Care Among Adults with Disabilities in Connecticut
Developmental Disabilities Network JournalIt is estimated that 25% of adults in the US are living with one or more disabilities. Persons with disabilities (PWD) have unmet health care needs, experience health disparities compared to those without disabilities.
Mary Beth Bruder, PhD +2 more
doaj +1 more source
Brain Sciences, 2015 Folate is a water-soluble vitamin that is critical for nucleotide synthesis and can modulate methylation of DNA by altering one-carbon metabolism. Previous studies have shown that folate status during pregnancy is associated with various congenital ...
Subit Barua +4 more
doaj +1 more source
Intellectual Disability and Potassium Channelopathies: A Systematic Review
Frontiers in Genetics, 2020 Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in ID is poorly understood.
Miriam Kessi +17 more
doaj +1 more source
Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito +14 more
wiley +1 more source
Self-Determination Research: Current and Future Directions
Behavioral SciencesThis article summarizes the history, current status, and future directions of self-determination research across the globe, with a focus on applications to the education of students with intellectual and developmental disabilities and their transition ...
Kathryn M. Burke +5 more
doaj +1 more source
Tau seeding activity in various regions of down syndrome brain assessed by two novel assays
Acta Neuropathologica Communications, 2022 Propagation of tau pathology via the seeding of naive tau aggregation underlies the progression of Alzheimer’s disease (AD) and related tauopathies. Individuals with Down syndrome (DS) develop tau pathology at the fourth decade of life, but tau seeding ...
Nana Jin +9 more
doaj +1 more source
Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi +19 more
wiley +1 more source