Results 61 to 70 of about 138,702 (254)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

Coinciding the features of emerging adulthood with the traits of the second demographic transition: Prominent spatial patterns in developed countries

open access: yesSocial Sciences and Humanities Open
The study of emerging adulthood (EA) has grown alongside the developments associated with the second demographic transition (SDT). This study examined the components of SDT that align with emerging adulthood (EA) features and their patterns across ...
Indranil Maity   +2 more
doaj   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao   +7 more
wiley   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone   +8 more
wiley   +1 more source

Spatial dimension of the second demographic transition in Serbia

open access: yesZbornik Matice srpske za drustvene nauke, 2018
Current research of the second demographic transition (SDT) in Serbia is largely focused on its sociological dimension, particularly on changes related to family formation. On the other hand, understanding the spatial dimension of this process can help in understanding its further expansion, but also its nature outside the countries in ...
Daniela Arsenovic   +2 more
openaire   +2 more sources

Depopulation and deep aging: the former Yugoslav and Western Balkans space between the second demographic transition and emigration

open access: yesStanovništvo
The article introduces the tentative concept of deep aging – a label used for a situation when the overall ageing effects of the second demographic transition, due to fertility below replacement level, are topped by the excessive emigration of the ...
Damir Josipovič
doaj   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao   +6 more
wiley   +1 more source

The second demographic transition and the development level of Colombia departments, 2005

open access: yesRevista Facultad Nacional de Salud Pública, 2010
Objective: to analyze the behavior of some demographic characteristics for each department to identify the state of demographic transition and its relationship to the development level.
Isabel C. Grajales A, Doris Cardona A
doaj  

Distinct Patterns of the Second Demographic Transition in Southern and Eastern Europe: 3D Plots Analysis

open access: yesComparative Population Studies
This article provides a quantitative analysis of Second Demographic Transition (SDT) dynamics in Southern and Eastern European countries, addressing the need to quantify its pace and regional variations.
Lukáš Kahoun, Luděk Šídlo
doaj   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers   +7 more
wiley   +1 more source

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