Results 81 to 90 of about 970,931 (242)

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

Habituation of parasympathetic-mediated heart rate responses to recurring acoustic startle

open access: yesFrontiers in Psychology, 2014
Startle habituation is a type of implicit and automatic emotion regulation. Diminished startle habituation is linked to several psychiatric or neurological disorders.
Kuan-Hua eChen   +10 more
doaj   +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

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino   +25 more
wiley   +1 more source

Skin ageing [PDF]

open access: yes, 2007
Cutaneous ageing manifests itself as a progressive reduction in maximum function and reserve capacity of skin tissue. It is not a unique and uniform biological event. Skin comprises three layers: epidermis, dermis and subcutaneous tissue.
Brincat, Mark P.   +2 more
core   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin   +8 more
wiley   +1 more source

A functional role for small-conductance calcium-activated potassium channels in sensory pathways including nociceptive processes [PDF]

open access: yes, 2005
We investigated the role of small-conductance calcium-activated potassium (SK) and intermediate-conductance calcium-activated potassium channels in modulating sensory transmission from peripheral afferents into the rat spinal cord.
Jowett, AJ   +7 more
core  

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu   +7 more
wiley   +1 more source

Talking about emotion:Prosody and skin conductance indicate emotion regulation

open access: yesFrontiers in Psychology, 2013
Talking about emotion and putting feelings into words has been hypothesized to regulate emotion in psychotherapy as well as in everyday conversation. However, the exact dynamics of how different strategies of verbalization regulate emotion and how these ...
Moritz eMatejka   +23 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

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