Results 101 to 110 of about 1,822 (274)

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Clinical aspects of motor neurone disease [PDF]

, 2020
Motor neurone disease (MND), or amyotrophic lateral sclerosis (ALS), is a progressive, fatal neurodegenerative disease affecting upper and lower motor neurones.
Guiloff, RJ, Orrell, RW
core  

Central nervous system involvement in cardiac amyloidosis: Redefining the heart‐brain axis

European Journal of Clinical Investigation, EarlyView.
Central nervous system involvement in cardiac amyloidosis. Amyloidosis is a systemic disease that can directly affect the central nervous system. Furthermore, the amyloid cardiomyopathy can indirectly affect the central nervous system by inducing systemic hypoperfusion and increasing the risk of acute ischaemic stroke.
Domenico Mario Giamundo, Giuliano Cassataro, Stefano Ministrini, Simon F. Stämpfli   +3 more
wiley   +1 more source

Bilateral Wrist Drop at Presentation in a Child with Spinal Muscular Atrophy Type I [PDF]

, 2014
N
Abdelrahim, Rana, Al-Futaisi, Amna, Al-Nabhani, Susan, Koul, Roshan   +3 more
core   +2 more sources

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

Phenotyping Neurodisability in Hospital Records in England: A National Birth Cohort Using Linked Administrative Data

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Children with neurodisability often have complex healthcare and educational needs. Evidence from linked administrative health and education data could improve joint working between services. Objective To develop a diagnostic code list to identify neurodisability in hospital admission records; to assess the representativeness of this
Ania Zylbersztejn, Philippa Rees, Rashmi D'Souza, Stuart Logan, Ayana Cant, Laura Gimeno, Vincent Nguyen, Jugnoo Rahi, Ruth Gilbert, Katie Harron, on behalf of HOPE Study, Bianca De Stavola, Lorraine Dearden, Johnny Downs, William Farr, Tamsin Ford, Kate Lewis, Matthew Lilliman, Jacob Matthews, Jennifer Saxton, Isaac Winterburn, Ruth Blackburn, Milagros Ruiz, Matthew Jay, Tony Stone, Farzan Ramzan   +25 more
wiley   +1 more source

Medical genetics: advances in brief: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy [PDF]

, 1995
A. Barnicoat
openalex   +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

Exploring the respiratory efficacy of combined chronic glucocorticoid and antioxidant interventions in the mdx mouse: The PREDNAC trial

Experimental Physiology, EarlyView.
Abstract Duchenne muscular dystrophy (DMD) is characterized by respiratory muscle injury and weakness, ultimately leading to respiratory failure. Impaired respiratory muscle performance, fibrosis and inflammation in early disease are evident in the dystrophin‐deficient mdx mouse model of DMD.
Michael N. Maxwell, Ben T. Murphy, Fiona B. McDonald, Ken D. O'Halloran   +3 more
wiley   +1 more source

Changes in the cortical GABAergic inhibitory system with ageing and ageing‐related neurodegenerative diseases

The Journal of Physiology, EarlyView.
Abstract figure legend With ageing and age‐related neurodegenerative diseases, the amount of GABA and GABAergic inhibition as well as the modulation (indicated by sine wave) of GABAergic inhibition is reduced, whereas excitation is increased. In many parts of the brain, this leads to a mismatch of facilitatory (green neurons) and inhibitory (red ...
Wolfgang Taube, Benedikt Lauber
wiley   +1 more source