Results 141 to 150 of about 888,799 (202)

Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma). [PDF]

Cureus, 2023
Ogbonmide T, Rathore R, Rangrej SB, Hutchinson S, Lewis M, Ojilere S, Carvalho V, Kelly I.   +7 more
europepmc   +1 more source

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

J Neurol, 2023
Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E, SUNFISH Working Group.   +22 more
europepmc   +1 more source

Multifunctional Hydrogels: Rational Design and Application in Regenerative Medicine

MedComm, Volume 7, Issue 10, October 2026.
Multifunctional hydrogels represent a paradigm shift in regenerative medicine, integrating rational material design with bioactive functionality to address complex tissue repair challenges. This review systematically examines the molecular engineering, structure–function relationships, and translational landscape of advanced hydrogel systems, spanning ...
Linyang Song, Epiphane K. Silli, Yazhen Xu, Huixia Lv, Ruoxian Song   +4 more
wiley   +1 more source

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1. [PDF]

Front Pediatr, 2022
Boursange S, Araneda M, Stalens C, Desguerre I, Barnerias C, Nougues MC, Isapof A, Quijano-Roy S, Blu Genestine N, Ouillade L, Martinez Jalilie M, Castiglioni C, Boespflug-Tanguy O, Gargiulo M, SMAPAR Study Group.   +14 more
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, Volume 13, Issue 10, Page 2405-2418, October 2026.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

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

Scott Med J, 2022
Gillingwater TH, McWilliam C, Horrocks I, McWilliam K, Hamilton M, Fletcher E, Williams N, Smith S, Parson SH.   +8 more
europepmc   +1 more source

Clinical Practice of Single‐Molecule Real‐Time Sequencing in the Diagnosis of Spinal Muscular Atrophy

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
SMRT sequencing accurately resolves SMN1 and SMN2 copy numbers, revealing an SMA carrier frequency of 2.33% and gene distribution patterns. Integrated with case analysis, it provides critical insights for clinical diagnosis and genetic counseling.
Hua Wei, Ya‐Wen Zheng, Ning‐Ke Zhang, Tie‐Li Gao, Jie‐Xiang Zheng, Tian‐You Li, Shu‐Rong Hong   +6 more
wiley   +1 more source

The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA). [PDF]

Cell Mol Life Sci, 2022
Detering NT, Schüning T, Hensel N, Claus P.   +3 more
europepmc   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Synaptic Proteostasis in Health and Disease

Journal of Neurochemistry, Volume 170, Issue 10, October 2026.
The localised creation and degradation of proteins at the pre and postsynaptic terminal are processes that are crucial for neuronal homeostasis. Synaptic proteostasis pathways are frequently reported as dysregulated in neurodevelopmental and neurodegenerative disorders.
Paul G. Donlin‐Asp, Emma L. Clayton
wiley   +1 more source