Results 191 to 200 of about 45,438 (256)

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

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study. [PDF]

Muscle Nerve
Sun R, Wang J, Han J, Jiang J, Wu J, Chen X, Deng X, Cai C, Sun D.   +8 more
europepmc   +1 more source

Changes in the cortical GABAergic inhibitory system in a Spinal Muscular Atrophy mouse model. [PDF]

Cell Death Dis
Menduti G, Ferrini F, Caretto A, Hassan A, di Vito R, Beltrando G, Marnetto D, Usiello A, Di Cunto F, Boido M, Vercelli A.   +10 more
europepmc   +1 more source

Vectors and Vector‐Borne Diseases: Biology, Epidemiology and Integrated Control Strategies

Journal of Applied Entomology, EarlyView.
ABSTRACT Vector‐Borne Diseases (VBDs), transmitted by arthropods such as mosquitoes, ticks, fleas and sandflies, represent a significant threat to global health. These diseases can be caused by a variety of pathogens, including bacteria, viruses, protozoa, and helminths.
Roberta Rinaldi, Carmen Scieuzo, Federica De Stefano, Luca Masucci, Patrizia Falabella   +4 more
wiley   +1 more source

Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience. [PDF]

Ann Indian Acad Neurol
Hafsa, Mohanlal S, Mubeena PM, Balaji A, Pramod S, Kumar S, Pachat D.   +6 more
europepmc   +1 more source

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

Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy. [PDF]

Front Neurol
Jaworek A, Jira K, Allen M, Zhao S, Kelly K, Moravec T, Tellez M, Heintzman S, Reynolds J, Sterling G, Kolb SJ, Arnold WD, Elsheikh B.   +12 more
europepmc   +1 more source

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK. [PDF]

EClinicalMedicine
Vanegas MI, Baranello G, Norman-Taylor F, Kokkinakis M, UK SMA Hip Consensus Group.   +4 more
europepmc   +1 more source

High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial. [PDF]

Nat Med
Finkel RS, Crawford TO, Mercuri E, Sumner CJ, Garcia Romero MDM, Day JW, Montes J, Sun P, Tichler B, Paradis AD, Boesch E, Inra J, Littauer R, Sohn J, Monine M, Gambino G, Foster R, Farewell R, Fradette S.   +18 more
europepmc   +1 more source

Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III. [PDF]

Rev Neurol
García Estévez DA.
europepmc   +1 more source