Results 61 to 70 of about 2,038 (184)

Effect of mild or moderate hepatic impairment on the pharmacokinetics of risdiplam

British Journal of Clinical Pharmacology, 2022
AimThis phase I, multicentre, open‐label, nonrandomised, parallel‐group, two‐part study aimed to evaluate the effect of mild to moderate hepatic impairment on the pharmacokinetics (PK), safety and tolerability of a single oral dose of risdiplam.MethodsAdult subjects (aged 18‐70 years) with mild (Child‐Pugh Class A; Part 1) or moderate (Child‐Pugh Class
Heidemarie Kletzl, Hassan Ajmi, Izabela Antys, Katja Heinig, Birgit Jaber, Thomas C. Marbury, Annie Young, Andreas Günther   +7 more
openaire   +2 more sources

Examination of the Peripheral Nervous System in Children With Spinal Muscular Atrophy: A High‐Resolution Ultrasonographic Study

Brain and Behavior, Volume 16, Issue 2, February 2026.
This study aimed to analyze the structure and cross‐sectional area (CSA) of the median nerve in children with spinal muscular atrophy (SMA) and evaluate the usefulness of high‐resolution ultrasound (HRUS) imaging for the monitoring of peripheral nerves in these children.
Janina Wurster, Erin West, Sandro Meier, Noé Phillip Bürke, Lynn Jansen, Philip Julian Broser   +5 more
wiley   +1 more source

Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial [PDF]

, 2023
Bulbar function in spinal muscular atrophy has been defined as the ability to meet nutritional needs by mouth while maintaining airway protection and communicate verbally. The effects of disease-modifying treatment on bulbar function are not clear.
Baranello, G, Darras, BT, Hurst-Davis, R, LaMarca, N, Lavrov, A, McGrattan, KE, O'Brien, E, Reyna, SP, Shell, RD, Wallach, S, Young, SD   +10 more
core  

A Psychometric Evaluation of Maximum Phonation Time and S/Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 2, Page 297-303, February 2026.
ABSTRACT Introduction/Aims A pragmatic evaluation of bulbar function among adults with spinal muscular atrophy (awSMA) is needed, requiring the validation of a low‐cost, feasible outcome measure (OM). Maximum phonation time (MPT) and S/Z ratio (S/Z) are potential low‐cost OMs for bulbar function. This study aimed to evaluate the psychometric properties
Jeremy Slayter, Lauren Casey, Dorothy Drost, Shane McCullum, Allison Christie, Colleen O'Connell   +5 more
wiley   +1 more source

New prospects for the treatment of Spinal Muscular Atrophy [PDF]

, 2019
Introduction: Spinal muscular atrophy (SMA) is one of the most common genetically determined causes of infant and young child death. The aim of the study: Review of medical literature on therapeutic strategies used in the treatment of SMA.
Boreński, Grzegorz, Milanowska, Joanna, Poleszak, Julita, Rejdak, Konrad, Szabat, Marta, Szabat, Przemysław, Wójcik, Magdalena   +6 more
core   +1 more source

Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy [PDF]

ObjectiveWe assessed the cost effectiveness of onasemnogene abeparvovec (OA) for presymptomatic infants with two or three copies of the survival motor neuron 2 (SMN2) gene (diagnosed/treated <= 6 weeks old) who lack functional SMN1 gene (biallelic ...
Basile, M, Di Brino, E, Ghetti, G, Pane, M, Rumi, F, Valentini, I   +5 more
core   +1 more source

Treatment of risdiplam after nusinersen continuously improves upper limb motor function in spinal muscular atrophy patients: a multicenter experience

Frontiers in Pediatrics
IntroductionSome individuals with spinal muscular atrophy (SMA) transition from nusinersen to risdiplam during disease-modifying therapy (DMT) due to factors such as treatment convenience, economic considerations, and adverse events (AEs).
Xi Cheng, Yun Ma, Li-Qiang Yu, Ya-Bei Fan, Liang-Hua Zhu, Han-Bing Lu, Qi Niu   +6 more
doaj   +1 more source

Newer advances in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Journal of Current Research in Scientific Medicine, 2019
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two common and important Inherited neuromuscular disorders which have witnessed immense advances in their treatment owing to ongoing developments in gene therapy.
Mukesh Kumar, Venugopalan Y Vishnu
doaj   +1 more source

Exploring the RNA‐Binding Potential of Three‐Dimensional Cyanines Derived From [2.2]Paracyclophane: A Structure–Property Relationship

ChemBioChem, Volume 27, Issue 1, January 2026.
Turn‐on polymethine dyes with a 3D [2.2]paracyclophane core selectively bind single‐stranded RNA over duplex regions, exhibiting higher specificity than flat benzene analogs. This study reports the design, synthesis, and structure–property analysis of an original family of three‐dimensional cyanine dyes based on the [2.2]paracyclophane (pCp) scaffold ...
Rongyu Sun, Cristian Siretanu, Georgina Ilieska, Simon Felder, Erica Benedetti, Laurent Micouin   +5 more
wiley   +1 more source

Global impact of unproductive splicing on human gene expression [PDF]

Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing proteomic diversity. AS can also impact gene expression levels without increasing protein diversity by producing ‘unproductive’ transcripts that are targeted for rapid
Buen Abad Najar, Carlos F., Fair, Benjamin, Li, Yang I., Lozano, Stephanie, Mossian, Gabriela, Reilly, Austin, Staley, Jonathan P., Wang, Jingxin, Zhao, Junxing   +8 more
core   +1 more source