Results 181 to 190 of about 107,263,868 (264)

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng   +4 more
wiley   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane   +19 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach   +23 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni   +19 more
wiley   +1 more source

Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran   +13 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou   +16 more
wiley   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon   +5 more
wiley   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li   +11 more
wiley   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird   +9 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro   +14 more
wiley   +1 more source

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