Results 1 to 10 of about 840,189 (237)

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities [PDF]

Journal of Clinical Medicine, 2023
Fatigue, a common symptom, together with the characteristic of performance fatigability, are well-documented features of SMA that impact quality of life and function. Importantly, establishing associations between multidimensional self-reported fatigue scales and patient performance has proven difficult.
Giorgia Coratti, Sally Dunaway Young, Jacqueline Montes   +2 more
exaly   +5 more sources

Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada. [PDF]

J Neuromuscul Dis, 2021
Background: Spinal muscular atrophy (SMA) is a rare neurodegenerative disease characterized by progressive muscular weakness, which occurs in one in 6,000 to 10,000 live births. The burden of SMA on Canadian patients and caregivers is not known. Objective:
McMillan HJ, Gerber B, Cowling T, Khuu W, Mayer M, Wu JW, Maturi B, Klein-Panneton K, Cabalteja C, Lochmüller H.   +9 more
europepmc   +4 more sources

A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland. [PDF]

Scott Med J, 2022
Peer ...
Gillingwater TH, McWilliam C, Horrocks I, McWilliam K, Hamilton M, Fletcher E, Williams N, Smith S, Parson SH.   +8 more
europepmc   +5 more sources

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) [PDF]

Journal of Neurology, 2023
Heidemarie Kletzl, Laurent Servais, John W Day   +2 more
exaly   +2 more sources

Emerging Gene Therapy Approaches in the Management of Spinal Muscular Atrophy (SMA): An Overview of Clinical Trials and Patent Landscape [PDF]

International Journal of Molecular Sciences, 2023
Daria Chulpanova, Valeriya Solovyeva, Albert Rizvanov   +2 more
exaly   +2 more sources

Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review [PDF]

International Journal of Molecular Sciences, 2021
Wendy Wai Yeng Yeo, Li Chuin Chong, Gayatri Gandhi   +2 more
exaly   +2 more sources

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs [PDF]

Frontiers in Neurology, 2020
Niko Hensel, Peter Claus, Sabrina Kubiński   +2 more
exaly   +2 more sources

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report

Journal of Cardiothoracic Surgery, 2023
Introduction Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy.
Mehmet Biçer, Şima Kozan, Figen Öztürk, Ayfer Arduç Akçay   +3 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene

Stem Cell Research, 2023
Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death.
Wenshu Zeng, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D. Pang, John W. Day, Joseph C. Wu   +7 more
doaj   +1 more source

Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen [PDF]

Frontiers in Neurology, 2019
Jens Dreyhaupt, Paul Lingor, Hayrettin Tumani   +2 more
exaly   +2 more sources