Results 81 to 90 of about 6,101 (249)

The antisense oligonucleotide nusinersen for treatment of spinal muscular atrophy [PDF]

, 2021
Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular degenerative disease characterized by loss of spinal cord motor neurons leading to progressive muscle wasting.
Cornett, Elyse M, Edinoff, Amber N, Girma, Brook, Kaye, Adam M, Kaye, Alan D, Maxey, Benjamin S., Nguyen, Long H., Odisho, Amira S., Pruitt, John W.   +8 more
core   +1 more source

Wearable sensors in paediatric neurology

Developmental Medicine &Child Neurology, Volume 67, Issue 7, Page 834-853, July 2025.
Types of signals monitored in children's natural environments using wearable sensors, and their associated applications in various paediatric neurological conditions. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16267 Abstract Wearable sensors have the potential to transform diagnosis, monitoring, and management of children ...
Camila González Barral, Laurent Servais
wiley   +1 more source

The efficacy and safety of nusinersen within the expanded access program in Russia

Нервно-мышечные болезни, 2020
Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva, L. M. Kuzenkova, E. S. Ilyina, Yu. A. Kursakova, L. M. Kolpakchi, E. Yu. Sapego, A. A. Golenko, S. G. Popovich, D. V. Parshin, O. A. Shidlovskaya, Yu. O. Papina, A. V. Monakhova, D. V. Vlodavets   +12 more
doaj   +1 more source

Nusinersen en el tratamiento de la atrofia muscular espinal: experiencia en Pediatría del Hospital Universitario Río Hortega [PDF]

, 2019
La atrofia muscular espinal (AME) es una enfermedad neurodegenerativa que conlleva una pérdida de fuerza progresiva e hipotonía. Se trata de una enfermedad genética debida a mutaciones en el gen SMN1, lo que ocasiona un déficit de la proteína de ...
Torío Salvador, Marina
core  

Serious Neurologic Adverse Events in Tofersen Clinical Trials for Amyotrophic Lateral Sclerosis

Muscle &Nerve, Volume 71, Issue 6, Page 1006-1015, June 2025.
ABSTRACT Introduction/Aims Tofersen is approved for the treatment of amyotrophic lateral sclerosis (ALS) due to superoxide dismutase 1 mutations (SOD1‐ALS). Here we report serious neurologic adverse events (AEs) that occurred in the tofersen clinical trials in people with SOD1‐ALS.
Alexandra Lovett, Sowmya Chary, Suma Babu, Gaëlle Bruneteau, Jonathan D. Glass, Merete Karlsborg, Shafeeq Ladha, Keith Mayl, Christopher McDermott, Robert C. Bucelli, Adriano Chiò, Toby A. Ferguson, Thos Cochrane, Stephanie Fradette, Karen Smirnakis, Jennifer Inra, Sohail Malek, Laura Fanning   +17 more
wiley   +1 more source

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

Neurology International
Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult ...
Asma AlTawari, Mohammad Zakaria, Walaa Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanay, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki   +12 more
doaj   +1 more source

Response of plasma microRNAs to nusinersen treatment in patients with SMA

Annals of Clinical and Translational Neurology, 2022
Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response.
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou   +7 more
doaj   +1 more source

Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy

Children, 2021
The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use.
Meaghann S. Weaver, Alice Yuroff, Sarah Sund, Scott Hetzel, Matthew A. Halanski   +4 more
doaj   +1 more source

Evaluator Training and Reliability for SMA Global Nusinersen Trials

Journal of Neuromuscular Diseases, 2018
Background: Training methodology was established to optimize reliability of outcome measures in the nusinersen clinical trials. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), Hammersmith Functional Motor Scale Expanded (HFMSE), and Revised Upper Limb (RULM) were primary or secondary outcomes.
Glanzman AM, Mazzone, Elena Stacy, Young SD, Gee R, Rose K, Mayhew A, Nelson L, Yun C, Alexander K, Darras BT, Zolkipli-Cunningham Z, Tennekoon G, Day JW, Finkel RS, Mercuri E, De Vivo DC, Baldwin R, Bishop KM, Montes J.   +18 more
openaire   +5 more sources

Sensory Nerve Action Potential Analysis in a Cohort of Patients With Spinal Muscular Atrophy Aged 12 Years and Older

Muscle &Nerve, Volume 71, Issue 6, Page 1016-1024, June 2025.
ABSTRACT Introduction/Aims Survival Motor Neuron 1 (SMN1)‐related spinal muscular atrophy (SMA) is characterized by α‐motor neuron degeneration, with sensory function assumed to be clinically preserved. However, recent studies in severely affected patients and animal models have challenged this view.
Leandra A. A. Ros, Boudewijn T. H. M. Sleutjes, H. Stephan Goedee, Fay‐Lynn Asselman, Inge Cuppen, Ruben P. A. van Eijk, W. Ludo van der Pol, Renske I. Wadman   +7 more
wiley   +1 more source