Results 121 to 130 of about 5,362,575 (211)

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

Intermediate-onset colorectal cancer: A clinical and familial boundary between both early and late-onset colorectal cancer

open access: yes, 2019
Comparative studies of colorectal cancer (CRC) according to the age of onset have found differences between early-onset CRC (EOCRC) and late-onset CRC (LOCRC).
Perea, José   +9 more
core   +1 more source

Tobacco- and alcohol-attributable burden of early-onset lip, oral cavity, and pharyngeal cancer in 204 countries and territories from 1990 to 2019, with projections to 2040

open access: yesFrontiers in Oncology
BackgroundRising trends in early-onset Lip and oral cavity cancer (LOC) and Other pharyngeal cancer (OPC) burden had been observed. This study aimed to evaluate the burdens of LOC and OPC attributable to tobacco and alcohol in young adults aged 15-49 ...
Xingzhu Dai, Yuanhao Liang
doaj   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller   +14 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

Different Impacts of Traffic-Related Air Pollution on Early-Onset and Late-Onset Asthma

open access: yes
Ting-Yu Lin,1,2 Firdian Makrufardi,3,4 Nguyen Thanh Tung,3,5 Amja Manullang,3 Po-Jui Chang,1,2 Chun-Yu Lo,1,2 Tzu-Hsuan Chiu,1 Pi-Hung Tung,1 Chiung-Hung Lin,1 Horng-Chyuan Lin,1,2 Chun-Hua Wang,1,2 Shu-Min Lin1,2 1Department of Thoracic Medicine, Chang ...
Lin HC   +11 more
core  

Onset and early use of gestural communication in nonhuman great apes [PDF]

open access: yes, 2012
The early gesturing of six bonobos, eight chimpanzees, three gorillas, and eight orangutans was systematically documented using focal animal sampling. Apes' were observed during their first 20 months of life in an effort to investigate: (i) the onset of ...
Call, Josep   +2 more
core  

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

Markers of neurodevelopmental impairments in early-onset psychosis

open access: yes, 2015
Maria Giuseppina Petruzzelli,1 Lucia Margari,1 Francesco Craig,1 Maria Gloria Campa,1 Domenico Martinelli,2 Adriana Pastore,3 Marta Simone,1 Francesco Margari3 1Child and Adolescence Neuropsychiatry Unit, Department of Basic Medical Sciences ...
Petruzzelli MG   +7 more
core  

Home - About - Disclaimer - Privacy