Results 111 to 120 of about 1,337,098 (143)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Cerebral Amyloid Angiopathy Is Associated With Higher R2 Relaxation Rate: An MRI and Pathology Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebral amyloid angiopathy (CAA) involves β‐amyloid deposition in the walls of cortical and leptomeningeal small vessels. Transverse relaxation rate (R2) is a major source of contrast in MRI. This study tested the hypothesis that CAA is associated with R2, extracted the spatial pattern of CAA‐related R2 abnormalities, and evaluated ...
Md Tahmid Yasar +6 more
wiley +1 more source
Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Quantitative markers of cortical excitability may help identify responders to anti‐seizure medications (ASMs). We studied the relationship between ASM load and two electroencephalography (EEG) markers of cortical excitability in people with refractory epilepsy. Methods We included individuals with refractory focal epilepsy undergoing
Silvano R. Gefferie +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Increasing evidence shows that patients with intracerebral hemorrhage (ICH) can achieve better‐than‐expected outcomes with aggressive therapy. However, real‐world long‐term data, patient‐centered outcomes, and societal measures after maximal ICH treatment are lacking.
Anne Mrochen +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sleep spindles are an electrophysiological fingerprint of the sleeping human brain. They can be described in terms of duration, frequency, amplitude, and density, and vary widely according to age and sex. Spindles play a role in sleep and wake functions and are altered in several neurological and psychiatric disorders.
Julien Coelho +8 more
wiley +1 more source
A 14‐Year Study of Serum Glial Fibrillary Acidic Protein and Total Tau in Premanifest Huntington's
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT There is a pressing need for blood biomarkers that can identify Huntington's disease (HD) gene carriers' proximity to manifest disease. We previously examined serial serum neurofilament light (NfL) concentrations in 21 premanifest HD gene carriers and 14 controls over 14 years, finding that NfL demonstrates high prognostic value and distinct ...
Natalia E. Owen +8 more
wiley +1 more source
Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao +4 more
wiley +1 more source
The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos +13 more
wiley +1 more source
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman +2 more
wiley +1 more source