Results 121 to 130 of about 840,189 (237)

Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA). [PDF]

J Clin Med, 2023
Tang WJ, Gu B, Montalvo S, Dunaway Young S, Parker DM, de Monts C, Ataide P, Ni Ghiollagain N, Wheeler MT, Tesi Rocha C, Christle JW, He Z, Day JW, Duong T.   +13 more
europepmc   +1 more source

Spinal muscular atrophy [PDF]

, 1995
Spinal Muscular Atrophy (SMA) is one of many neuromuscular diseases affect ing motor neurons and skeletal muscles. This disorder causes deterioration of the motor neurons (specifically the Anterior Horn Cells of the spinal cord). These motor neurons that
Nowak, Deborah
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1866-1877, September 2026.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

A Comprehensive Review on Spinal Muscular Atrophy (SMA) [PDF]

Perceptions in Reproductive Medicine, 2021
openaire   +1 more source

Bio‐Based Polyurethanes for Sustainable and Multifunctional Applications

Advanced Science, Volume 13, Issue 50, 7 September 2026.
Bio‐based polyurethanes prepared from vegetable oils, lignin, and polysaccharides have attracted increasing interest as alternatives to fossil‐derived polyurethanes. This review summarizes recent progress in their chemistry, structural engineering, and advanced applications, highlighting the roles of feedstocks, chain‐segment design, dynamic covalent ...
Xin Li, Henghui Deng, Shiwei Yu, Jiawei Huang, Zehong Chen, Dawei Zhao, Chaoqun Zhang   +6 more
wiley   +1 more source

V. Spinal and Bulbar Muscular Atrophy (SBMA) and Bulbar Muscular Atrophy (SMA)

Nihon Naika Gakkai Zasshi, 2022
Shinichiro Yamada, Tomoki Hirunagi, Kentaro Sahashi, Masahisa Katsuno   +3 more
openaire   +1 more source

The Cog‐Aging: a 15‐year cohort study of cognition in Brazilian older adults

Alzheimer's &Dementia, Volume 22, Issue 9, September 2026.
Abstract BACKGROUND Prevalence of dementia is higher in low‐ and middle‐income countries (LMICs). However, longitudinal studies characterizing cognitive decline and its clinical and epidemiological predictors remain scarce in Brazil. METHODS Participants were enrolled from 2011 to 2025 and followed through May 2026.
Gabriela Tomé Oliveira Engelmann, Joice Coutinho de Alvarenga, Giovanna Correia Pereira Moro, Ivonne Carolina Bolaños Burgos, Mariana Figueiredo Miranda, Millena Figueiredo Miranda, Aline Siqueira de Souza, Marcelle Ferreira Saldanha, Erika Oliveira Hansen, Natalia Silva Dias, Fabiana Carla Matos da Cunha Cintra, Bruna Fulgêncio Dias, Anna Luiza da Silva Souza, Andréa Teixeira Carvalho, Pamela V. Martino‐Adami, Marco Túlio Gualberto Cintra, Ludimila Labanca, Igor Nunes Lanna, Rafaela Teixeira de Ávila, Jonas Jardim de Paula, Luciana Costa‐Silva, Daniela Valadão Freitas Rosa, Débora Marques de Miranda, Marco Aurélio Romano‐Silva, Luiz Armando Cunha de Marco, Alfredo Ramírez, Bernardo de Mattos Viana, Maria Aparecida Camargos Bicalho   +27 more
wiley   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, Volume 100, Issue 3, Page 584-599, September 2026.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

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

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

CNS Neuroscience &Therapeutics, Volume 32, Issue 9, September 2026.
In 36 Chinese pediatric CMS patients, integrated phenotype, RNS, and genomic assessment revealed marked genetic heterogeneity across 17 CMS‐associated genes and frequent VUS‐related uncertainty. Genotype‐informed therapy improved MG‐ADL scores, while CHAT‐CMS identified a high‐risk subgroup for early respiratory failure and mortality.
Liya Cui, Kaiyue Ma, Xiaona Fu, Lin Ge, Bingbing Jia, Wenna Ma, Lei Yang, Zhimei Liu, Junlan Lv, Wenmiao Xu, Lijuan Wang, Guangyuan Zhao, Jiuwei Li, Jie Wu, Quan Wang, Changhong Ding, Xiaotun Ren, Xinming Shen, Hui Xiong   +18 more
wiley   +1 more source