Results 111 to 120 of about 121,613 (384)

Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. [PDF]

, 2016
Spinal muscular atrophy (SMA) is an early-onset motor neuron disease that leads to loss of muscle function. Butyrate (BA)-based compounds markedly improve the survival and motor phenotype of SMA mice.
Butchbach, Matthew E.R., Edwards, Jonathan D.   +1 more
core   +2 more sources

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

Annals of Clinical and Translational Neurology, 2020
To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as endpoints in clinical ...
M. Annoussamy, A. Seferian, A. Daron, Y. Péréon, C. Cances, C. Vuillerot, L. De Waele, V. Laugel, U. Schara, T. Gidaro, C. Lilien, J. Hogrel, P. Carlier, E. Fournier, L. Lowes, K. Gorni, Myriam Ly-Le Moal, N. Hellbach, T. Seabrook, C. Czech, R. Hermosilla, L. Servais   +21 more
semanticscholar   +1 more source

Engineered Microfluidic Organoid Systems: New Paradigms for Menopause Mechanism Research and Personalized Medicine

Advanced Materials Technologies, EarlyView.
This review explores the integration of microfluidic technology with organoid systems as an innovative platform for studying menopausea complex multi‐organ condition. By enabling precise simulation of inter‐organ communication and hormone responses, microfluidic organoids offer a physiologically relevant model for investigating menopausal syndrome and ...
Qianyi Zhang, He Huang, Hongliang Dong, Qiang Ma, Hongyan Jin   +4 more
wiley   +1 more source

Wearable and Implantable Devices for Continuous Monitoring of Muscle Physiological Activity: A Review

Advanced Science, EarlyView.
Recent advances in materials and device engineering enable continuous, real‐time monitoring of muscle activity via wearable and implantable systems. This review critically summarizes emerging technologies for tracking electrophysiological, biomechanical, and oxygenation signals, outlines fundamental principles, and highlights key challenges and ...
Zhengwei Liao, Ata Golparvar, Mohammad Javad Bathaei, Filipe Arroyo Cardoso, Clementine M. Boutry   +4 more
wiley   +1 more source

Spinal Muscular Atrophy and Arthrogryposis

Pediatric Neurology Briefs, 1997
Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
doaj   +1 more source

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2013
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Natural history of lung function in spinal muscular atrophy

Orphanet Journal of Rare Diseases, 2020
Background Respiratory muscle weakness is an important feature of spinal muscular atrophy (SMA). Progressive lung function decline is the most important cause of mortality and morbidity in patients.
C. Wijngaarde, E. Veldhoen, R. V. van Eijk, M. Stam, L. Otto, F. Asselman, R. W. Wösten-van Asperen, E. Hulzebos, Laura P. Verweij-van den Oudenrijn, B. Bartels, I. Cuppen, R. Wadman, Leonard H. van den Berg, C. K. van der Ent, W. L. van der Pol   +14 more
semanticscholar   +1 more source

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, EarlyView.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Orphanet Journal of Rare Diseases, 2017
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
I. Verhaart, A. Robertson, I. Wilson, A. Aartsma-Rus, S. Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller   +7 more
semanticscholar   +1 more source