Results 91 to 100 of about 6,101 (249)

Evaluation of the Efficacy of Nusinersen Treatment in Patients with Late-onset SMA Using the Hammersmith Functional Motor Scale Expanded

Journal of Behçet Uz Children's Hospital
Objective: Spinal muscular atrophy (SMA) is a hereditary disorder with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide directed against SMN2 and has been shown in studies to improve the motor skills of patients.
Yiğithan Güzin, Ayşe Özbay Yıldız, Bakiye Tunçay, Pınar Gençpınar, Figen Baydan, Nihal Olgaç Dündar   +5 more
doaj   +1 more source

Implementing Outcomes-Based Managed Entry Agreements for Rare Disease Treatments:Nusinersen and Tisagenlecleucel [PDF]

, 2021
Enthusiasm for the use of outcomes-based managed entry agreements (OBMEAs) to manage uncertainties apparent at the time of appraisal/pricing and reimbursement of new medicines has waned over the past decade, as challenges in establishment, implementation
Benisheva, Tatyana, Espin, Jaime, Facey, Karen M, Kent, Emma, Link, Angèl, Nicod, Elena, O'Leary, Aisling, Upadhyaya, Sheela, Vagoras, Andrius, van de Vijver, Inneke, Xoxi, Entela, Zaremba, Anna   +11 more
core   +2 more sources

ALKBH3‐Mediated M1A Demethylation of METTL3 Endows Pathological Fibrosis:Interplay Between M1A and M6A RNA Methylation

Advanced Science, Volume 12, Issue 19, May 22, 2025.
RNA modification is crucial in fibrosis diseases, but the role of m1A modification remains elusive. This study reveals that ALKBH3, an m1A demethylase, drives skin fibrosis by reshaping m6A RNA modification and stabilizing COL1A1 and FN1 mRNAs through METTL3, uncovering a crosstalk between m1A and m6A methylation in pathological events.
Liying Tu, Shuchen Gu, Ruoqing Xu, En Yang, Xin Huang, Hsin Liang, Shenying Luo, Haizhou Li, Yixuan Zhao, Tao Zan   +9 more
wiley   +1 more source

Adverse events in the treatment of spinal muscular atrophy in children and adolescents with nusinersen: A systematic review and meta-analysis

Frontiers in Pediatrics, 2023
ObjectivesTo systematically analyze adverse events (AEs) in treatment of spinal muscular atrophy (SMA) with Nusinersen in children and adolescents.MethodsThe study is registered on PROSPERO (CRD42022345589).
Zhi-Juan Zhong, Pi-Mei Zheng, Hui-Hong Dou, Ji-Gan Wang   +3 more
doaj   +1 more source

SMA Therapy in Poland: New Hopes and Challenges [PDF]

, 2023
: Spinal muscular atrophy (SMA) is a genetically inherited disease whose symptoms appear in children at a fairly early age. The main cause of the disease is a mutation of the SMN1 gene, which causes the lack of production of SMN This results in the ...
Chrościńska-Krawczyk, Magdalena, Gendek, Karolina, Jastrzębska, Ilona, Maliszewska, Karolina, Welian, Iwona   +4 more
core   +1 more source

Improvements in walking distance during nusinersen treatment: a prospective 3-year SMArtCARE Registry Study [PDF]

, 2023
Background and objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved
Adrian Tassoni, Andreas Hahn, Andreas Ziegler, Annekathrin Rödiger, Arpad von Moers, Astrid Blaschek, Astrid Pechmann, Benedikt Becker, Bertold Schrank, Christian Stadler, Christoph Kamm, Christoph Neuwirth, Corinna Stoltenburg, Cornelia Köhler, Daniel Zeller, Daniela Zöller, Ekkehard Willichowsky, Elisabeth Steiner, Eva Stögmann, Franziska Wenzel, Gudrun Schreiber, Günther Bernert, Hanna Küpper, Hanns Lochmüller, Heike Kölbel, Jan Christoph Koch, Janbernd Kirschner, Jessika Johannsen, Johannes Friese, Katharina Dörnbrack, Kirsten Kolzter, Maggie C. Walter, Manuela Baumgartner, Mareike Schimmel, Marina Flotats-Bastardas, Markus Weiler, Martin Smitka, Matthias Baumann, Matthias Türk, Max Behrens, Meike Steinbach, null null, Regina Trollmann, Rene Günther, Sabine Stein, Sibylle Vogt, Steffen Naegel, Susanne Petri, Tim Hagenacker, Ulrike Schara-Schmidt   +49 more
core   +2 more sources

Long‐Term Effects of Nusinersen Dosing Frequency on Adult Patients With Spinal Muscular Atrophy: Efficacy of a 6‐Month Dosing Interval

Brain and Behavior, Volume 15, Issue 5, May 2025.
ABSTRACT Objective Spinal muscular atrophy (SMA) is a genetic disease caused by the degeneration of spinal motor neurons due to a deficiency in survival motor neuron protein (SMN) protein, leading to progressive muscle atrophy and weakness. nusinersen, an antisense oligonucleotide that increases SMN protein expression, has shown effectiveness in both ...
Keita Takahashi, Hitaru Kishida, Misako Kunii, Yosuke Miyaji, Yuichi Higashiyama, Hiroshi Doi, Naohisa Ueda, Hideyuki Takeuchi, Fumiaki Tanaka   +8 more
wiley   +1 more source

Alzheimer's Disease and Frontotemporal Dementia: A Review of Pathophysiology and Therapeutic Approaches

Journal of Neuroscience Research, Volume 103, Issue 5, May 2025.
ABSTRACT Alzheimer's disease (AD) is a devastating form of dementia, with the number of affected individuals rising sharply. The main hallmarks of the disease include amyloid‐beta plaque deposits and neurofibrillary tangles consisting of hyperphosphorylated tau protein, besides other pathological features that contribute to the disease's complexity ...
Sally Kelliny, Xin‐Fu Zhou, Larisa Bobrovskaya   +2 more
wiley   +1 more source

The Third Pillar of Precision Medicine — Precision Delivery

MedComm, Volume 6, Issue 5, May 2025.
For Precision Medicine to reach its full potential, a third pillar called Precision Delivery is starting to evolve to complement the existing two pillars of Precision Diagnosis and Precision Therapy. Precision Delivery will help ensure the right therapy for the right disease will be able to reach the right location at the right time .
Avnesh S. Thakor
wiley   +1 more source

All hands on deck: The multidisciplinary rehabilitation assessment and management of hand function in persons with neuromuscular disorders

Muscle &Nerve, Volume 71, Issue 5, Page 869-888, May 2025.
Abstract Hand function is important in every aspect of our lives. Across a wide range of neuromuscular disorders—inherited ataxias, motor neuron diseases, polyneuropathies, and myopathies—people can experience losses in hand strength, tone, movement, dexterity, joint range, and sensation.
Colleen O'Connell, Meiqi Guo, Béatrice Soucy, Marla Calder, Jeff Sparks, Stephanie Plamondon   +5 more
wiley   +1 more source