Results 81 to 90 of about 1,729 (232)

The Children's Eating and Drinking Activity Scale: Interrater reliability, concurrent validity, and responsiveness

Developmental Medicine &Child Neurology, EarlyView.
This paper evaluated the interrater reliability, concurrent validity and responsiveness of the Children's Eating and Drinking Activity Scale ‐ a measure of functional outcome for children with paediatric feeding disorder. Abstract Aim To assess the interrater reliability, concurrent validity, and responsiveness of the Children's Eating and Drinking ...
Ericka Joinelle Mantaring, Sheung Yu Sylfiana Wong, Michelle McInerney, Vicky Thorpe, Alexandra Stewart   +4 more
wiley   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Motor neurone and muscle nuclear changes in development and disease [PDF]

, 1976
The primary gene defects of hereditary neuromuscular disorders have not, as yet, been determined. Research has contributed much to our understanding of many aspects of these diseases, but since this has been directed towards the secondary phenomena ...
Vassilopoulos, D.
core  

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Late-onset spinal motor neuronopathy- a new neuromuscular disease [PDF]

, 2015
The aim of this study was to clarify the clinical phenotype of late-onset spinal motor neuronopathy (LOSMoN), an adult-onset autosomal dominant lower motor neuron disorder identified first in two families in Eastern Finland, in order to clarify ...
Jokela, Manu
core  

The Neurobiology of Childhood Spinal Muscular Atrophy

Neurobiology of Disease, 1996
Thomas O. Crawford, Carlos A. Pardo
openaire   +3 more sources

A Personal Exploration of Oral Health in Amyotrophic Lateral Sclerosis (ALS) Through the Eyes of a Multifaceted Authority

Journal of Oral Rehabilitation, EarlyView.
This study resulted in agendas to improve oral health care, research, and education, advocating for a shift in ALS oral health care: from neglect to proactive integration. ABSTRACT Background and Objective Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that impairs motor function, including oral musculature, complicating
Merel C. Verhoeff, Maurits K. A. van Selms, Frank Lobbezoo   +2 more
wiley   +1 more source

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, EarlyView.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source