Results 121 to 130 of about 29,368 (292)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Parental mediation strategies [PDF]

, 2017
UID/SOC/04647/2013Information and communication technologies (ICT) continues to be a highly gendered area of life in all socioeconomic and educational backgrounds, and a source of significant social inequality in enduring ways.
Ferreira, Maria Eduarda, Ponte, Maria Cristina Mendes da, Castro, Teresa Sofia Pereira Dias de   +2 more
core  

Positive, negative, and ambivalent: Indian parents’ attitudes to and mediation methods of children’s digital media use

Cogent Social Sciences
Children’s digital media use in India, particularly in urban family settings, has sharply increased over the years. As children continue to use digital media unprecedentedly, it is essential to know how the environments within which children grow ...
Sowparnika Pavan Kumar Attavar, Padma Rani   +1 more
doaj   +1 more source

What Changed During COVID-19? How the COVID-19 Crisis Changed Parental Perceptions and Practices Related to Children's Internet Use in Five European Countries

International Journal of Communication, 2023
The COVID-19 lockdown saw an increased reliance on digital technology for children, which might have called for changes in parental mediation practices.
Beatrice Sciacca, Christine W. Trültzsch-Wijnen, Anca Velicu, Patricia Dias, Tijana Milosevic, Elisabeth Staksrud   +5 more
doaj  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

PARENTAL MEDIATION PADA ANAK USIA PRASEKOLAH YANG KECANDUAN GAWAI [PDF]

, 2019
Penelitian ini bertujuan untuk melihat gambaran parental mediation pada anak usia prasekolah yang kecanduan gawai. Parental mediation merupakan perilaku dan strategi orangtua yang digunakan untuk mengatur penggunaan media digital pada anak-anak guna ...
DIAR NOVI PRISANTI, 111411131083
core  

Parenting With Chinese Characteristics in the Digital Age: Chinese Parents’ Perspectives and Parental Mediation of Children’s Media Use

International Journal of Communication
This study explores parental views of early adolescents’ media use and parental mediation among urban middle-class families in mainland China through a sociocultural perspective.
Cecilia Yuxi Zhou
doaj  

Early Adolescents and Exposure to Risks Online: What Is the Role of Parental Mediation Styles?

Social Sciences
Studies indicate that early adolescents are exposed to several online risks. Furthermore, early adolescents with Special Educational Needs (SENs) often experience emotional, social, or family difficulties, which increase their vulnerability to online ...
Clara Cavallini, Simona Carla Silvia Caravita, Barbara Colombo   +2 more
doaj   +1 more source

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

Annals 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, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source