Results 101 to 110 of about 19,843 (235)

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Molecular bases of spinal muscular atrophy: the survival motor neuron gene [PDF]

, 2001
L'atròfia muscular espinal (AME) és una malaltia neuromuscular autosòmica recessiva caracteritzada per Ia degeneració i Ia pèrdua de Ies motoneurones de Ia banya anterior de Ia medul·la espinal.
Baiget Bastús, Montserrat, Tizzano, Eduardo   +1 more
core  

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

Survival Motor Neuron (SMN) protein is required for normal mouse liver development [PDF]

, 2016
Spinal Muscular Atrophy (SMA) is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Decreased levels of, cell-ubiquitous, SMN protein is associated with a range of systemic pathologies reported in severe patients.
Francesco, M, Gillingwater, TH, Maxwell, GK, Parson, SH, Powis, RA, Szunyogova, E, Zhou, H   +6 more
core  

A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) [PDF]

, 2015
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and the leading genetic cause of death in infants. Despite the disease-causing gene, survival motor neuron (SMN1), encodes a ubiquitous protein, SMN1 deficiency preferentially affects ...
Ciafrè, S, Farace, M, Luchetti, A, Malgieri, A, Masotti, A, Murdocca, M, Novelli, G, Sanchez, M, Sangiuolo, F   +8 more
core   +2 more sources

Stem Cells From Dental Pulp, Periodontal Tissues, and Other Oral Sources: Biological Concepts and Regenerative Potential

Journal of Periodontal Research, EarlyView.
A graphical abstract recapping the different sources of dental, periodontal, and other oral‐derived mesenchymal stromal cells (MSCs) and their regenerative mechanisms and potentials. The review's article findings bridge fundamental biological science with translational advances, highlighting the significance of MSCs in craniofacial regenerative ...
Karim M. Fawzy El‐Sayed, Sara El Moshy, Israa Ahmed Radwan, Dina Rady, Aiah A. El‐Rashidy, Marwa M. S. Abbass, Christof E. Dörfer   +6 more
wiley   +1 more source

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns [PDF]

, 2016
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient levels of the Survival of Motor Neuron (SMN) protein. SMN is expressed ubiquitously and functions in RNA processing pathways that include trafficking of mRNA and assembly of
Andersen, H. S., Andresen, B. S., Broner, S., Bruun, G. H., Dembic, M., Doktor, T. K., Hua, Y., Krainer, A. R., Liu, Y. H., Wieckowska, A.   +9 more
core   +2 more sources

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, Volume 73, Issue 5, Page 755-764, May 2026.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study

Neurology International
Background: Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease.
Andrea Sipos, Emese Rebeka Ripszám, Judit Mária Molnár, Zoltán Grosz, Judit Boczán, Melinda Borbála Altorjay, Livia Dézsi, Anett Csáti, Kristóf Babarczy, Norbert Kovács, Nándor Hajdú, Endre Pál   +11 more
doaj   +1 more source

TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals [PDF]

, 2012
Antisense oligonucleotides (ASOs) are versatile molecules that can be designed to specifically alter splicing patterns of target pre-mRNAs. Here we exploit this feature to phenocopy a genetic disease.
Bennett, C. F., Horev, G., Hua, Y., Hung, G., Katsuno, M., Ko, C. P., Krainer, A. R., Ling, K. K., Rigo, F., Sahashi, K., Sobue, G.   +10 more
core   +1 more source