Results 141 to 150 of about 20,899 (290)

SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe [PDF]

, 2013
Nathalie Kayadjanian, Arthur H.M. Burghes, Richard S. Finkel, Eugenio Mercuri, Françoise Rouault, Inge Schwersenz, Kevin Talbot   +6 more
openalex   +1 more source

Newborn screening program and advanced therapies as a chance for the youngest patients – based on spinal muscular atrophy (SMA) [PDF]

, 2023
Martyna Śliwińska, Anna Rakuś-Kwiatosz   +1 more
openalex   +1 more source

Midkine‐Mediated Microglia Activation after Renal Injury Promotes Cognitive Impairment Following Ischemic Renal Injury

Advanced Science, Volume 13, Issue 3, 14 January 2026.
The mechanism of secondary cognitive impairment following AKI. When renal ischemic injury progresses to fibrosis, renal fibroblasts and damaged tubular cells secrete MDK, which circulates through the bloodstream, crosses the damaged BBB, and accumulates in the hippocampus tissue (an area crucial for learning and memory).
Li Lu, Bixiao Liu, Yu Yang, Tao Meng, Yuanyuan Chang, Yao Peng, Jia Guo, Zhuqing Wang, Hongqian Guo, Liuhua Zhou, Xiaozhi Zhao   +10 more
wiley   +1 more source

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

Wnt Signaling Pathway: Biological Function, Diseases, and Therapeutic Interventions

MedComm, Volume 7, Issue 1, January 2026.
The Wnt signaling pathway is essential for development and tissue homeostasis, while its dysregulation drives diverse diseases. This review systematically outlines its components, functions, regulators, and preclinical models, highlighting secreted frizzled‐related proteins (SFRPs) as context‐dependent, biphasic modulators.
Xiaoyu Jin, Jiahui Wang, Runyi Cao, Dongsheng Jiang   +3 more
wiley   +1 more source

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang, Wenjing Bai, Xiaohe Cai, Sheng Huang, Jiangzhong Zeng, Xiaoting Liang, Xutao Hong   +6 more
wiley   +1 more source

Emerging Gene Therapy Approaches in the Management of Spinal Muscular Atrophy (SMA): An Overview of Clinical Trials and Patent Landscape. [PDF]

Int J Mol Sci, 2023
Ponomarev AS, Chulpanova DS, Yanygina LM, Solovyeva VV, Rizvanov AA.   +4 more
europepmc   +1 more source

Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in spinal muscular atrophy (SMA) patients in Malaysia [RJ482.A83 W333 2008 f rb]. [PDF]

, 2007
Spinal Muscular Atrophy (SMA) adalah sejenis penyakit kelemahan saraf otot yang akhirnya menyebabkan kemerosotan otot. Penyakit ini disebabkan oleh mutasi pada gen Survival Motor Neuron 1 (SMN1).
Mohd Shamshudin, Wati @ Hayati
core  

Physiologically‐Based Pharmacokinetic Modeling to Support Pediatric Clinical Development: An IQ Working Group Perspective on the Current Status and Challenges

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 1, January 2026.
ABSTRACT Pediatric extrapolation strategies issued by health authorities have streamlined pediatric drug development and reduced the unnecessary burden of conducting pediatric clinical studies. In line with these strategies, physiologically based pharmacokinetic (PBPK) models have been utilized extensively for initial dosing regimen and sampling ...
James W. T. Yates, Michael Zientek, Kunal S. Taskar, Wen Lin, Tycho Heimbach, Stefan Willmann, Jessica Rehmel, Neil Parrott, Michael Hanley, Justine Badee, Yuan Chen, Susan Cole, Loeckie De Zwart, Sebastian Haertter, Rongrong Jiang, Masakatsu Kotsuma, Guiqing Liang, Yu‐Wei Lin, Jing Liu, Ying Ou, Juliane Rascher, Naveed A. Shaik, Jan Wahlstrom, Xiaofeng Wang, Guangqing Xiao, Ka Lai Yee, S. Y. Amy Cheung   +26 more
wiley   +1 more source

AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

, 2021
B Raheena, Shaila Borannavar, Ananta S Desai   +2 more
openalex   +1 more source