Results 131 to 140 of about 1,034,528 (314)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

A cross-tissue transcriptome-wide association study reveals novel susceptibility genes for migraine

The Journal of Headache and Pain
Background Migraine is a common neurological disorder with a strong genetic component. Despite the identification of over 100 loci associated with migraine susceptibility through genome-wide association studies (GWAS), the underlying causative genes and ...
Jianxiong Gui, Xiaoyue Yang, Chen Tan, Lingman Wang, Linxue Meng, Ziyao Han, Jie Liu, Li Jiang   +7 more
doaj   +1 more source

Child Sexual Abuse: Development of Psychiatric Disorders and Interventions

, 2007
Child sexual abuse has become a serious social concern due to the recent report of its higher incidence rate than commonly believed. This form of child abuse has been proposed to bring about adverse effects on children's development since more than one century ago.
openaire   +3 more sources

The emotional contagion in children with autism spectrum disorder [PDF]

, 2016
Studies of the last decade have demonstrated that children with Autism Spectrum Disorder (ASD) showed difficulties in language, social and relational areas, but they had also impairment in the mechanisms of embodied simulation, namely the imitative ...
Bianchi Di Castelbianco, F., Di Renzo, M., Donaera, F., Petrillo, M., Racinaro, L., REA, MONICA   +5 more
core  

Mental health promotion in schools : a comprehensive theoretical framework [PDF]

, 2020
Recent decades have seen a rise in mental health problems among children and adolescents. Despite a proliferation of studies describing effective school-based mental health programs, reviews of current research in this field suggest a strong lack of ...
Cavioni, Valeria, Grazzani, Ilaria, Ornaghi, Veronica   +2 more
core  

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Differences in catch-up growth and its relationship to nutritional status between SGA and AGA twins and singletons in the first year after birth: a prospective cohort study

Scientific Reports
To compare the difference between appropriate for gestational age (AGA) and small for gestational age (SGA) of singleton and twin in terms of catch-up growth (CUG) and nutritional status in the first year after birth through a prospective cohort study. A
Minghui Xiong, Ting Pan, Zhanzhan Zhang, Yuanfeng Zhong, Qian Chen, Yannan Wan, Lin Zhu, Li Chen, Xuan Zhang   +8 more
doaj   +1 more source

Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund, Johan Reutfors, Thomas Frisell, Fredrik Piehl   +3 more
wiley   +1 more source

Parent Interaction Between an Infant with a Cochlear Implant and Additional Disabilities [PDF]

, 2019
Pediatric hearing loss has many spoken language learning issues that can impact parent-infant interaction. Moreover, additional disabilities are likely to increase stress, which could have cascading effects on communication.
Southern, Lillian
core   +1 more source

Will Memantine Exacerbate Seizures in People With Epilepsy? A Prospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate whether add‐on memantine would exacerbate seizures in people with epilepsy. Methods This was a prospective cohort study. People with epilepsy diagnosed with cognitive impairment were consecutively invited. Those who agreed were followed up for at least 24 weeks.
Peiyu Wang, Lu Lu, Hui Gao, Qi Zhang, Jing Xiao, Josemir W. Sander, Weixi Xiong, Dong Zhou   +7 more
wiley   +1 more source