Results 131 to 140 of about 30,148 (300)

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit   +11 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito   +8 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

The Effect of Parenting Styles on Children Attachment Dimensions

open access: yesفصلنامه خانواده پژوهی, 2014
The purpose of this study is to determine the effects of parenting style on prediction of children's attachment style. To achieve this aim, the study investigates whether different parenting styles (authoritative, authoritarian, permissive and neglectful)
علي زينالي
doaj  

Perceptions of parenting styles in South Africa: The effects of gender and ethnicity

open access: yesCogent Psychology, 2016
Parenting style is an area of research which is emerging in South Africa. Previous research notes significant differences between ethnic groups in terms of parenting.
Nicolette Vanessa Roman   +2 more
doaj   +1 more source

Cumulative Social Disadvantage and Disease Activity in Juvenile Idiopathic Arthritis: A Childhood Arthritis and Rheumatology Research Alliance Registry Study

open access: yesArthritis Care &Research, EarlyView.
Objective Social determinants of health (SDOH) contribute to juvenile idiopathic arthritis (JIA) disparities, but most studies have assessed SDOH independently rather than cumulatively across individual, family, and neighborhood levels. Using a socioecological framework, we investigated the relationship among cumulative social disadvantage ...
William Daniel Soulsby   +448 more
wiley   +1 more source

Parenting styles in Rasht parents

open access: yesJournal of Holistic Nursing and Midwifery, 2009
Introduction: The parenting styles used in different periods of childhood can have an effect ‎on child personality evolution. Child and parents relationship in addition to comfort provision ‎and feeling reinforcement like trust, confidence, security and independence, can be a ‎predisposing factor for physical, psychological and especially ...
mahshid mirzaie   +2 more
openaire   +1 more source

Engagement Patterns with an AI Health Coach for Systemic Sclerosis Self‐Management: A Mixed Methods Study

open access: yesArthritis Care &Research, Accepted Article.
Objective To evaluate utility of an artificial intelligence (AI) health coach for systemic sclerosis (SSc) self‐management and identify patterns associated with participant engagement. Methods We conducted a mixed‐methods study in which an AI health coach, powered by a large language model (LLM), was used to support self‐management for SSc.
Nirali Shah   +4 more
wiley   +1 more source

NFDI MatWerk Ontology (MWO): A BFO‐Compliant Ontology for Research Data Management in Materials Science and Engineering

open access: yesAdvanced Engineering Materials, EarlyView.
This article presents the NFDI‐MatWerk Ontology (MWO), a Basic Formal Ontology‐based framework for interoperable research data management in materials science and engineering (MSE). Covering consortium structures, research data management resources, services, and instruments, MWO enables semantic integration, Findable, Accessible, Interoperable, and ...
Hossein Beygi Nasrabadi   +4 more
wiley   +1 more source

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