Results 161 to 170 of about 1,154 (251)

Virtual Screening and Zebrafish Phenotype‐Based Evaluation Argues Against Repurposing 4‐Phenylbutyrate for STXBP1‐Related Disorders

Pharmacology Research &Perspectives, Volume 14, Issue 3, June 2026.
ABSTRACT Syntaxin‐binding protein 1 (STXBP1) mutations lead to severe epilepsy, intellectual disability, developmental delay, and movement disorder. Effective treatments for these conditions do not exist. Recent studies in Munc18‐1 (STXBP1) C. elegans models demonstrate that 4‐phenylbutyrate (4‐PBA) or related pharmacological chaperones stabilize ...
Aline Frick, Paige Whyte‐Fagundes, Scott C. Baraban   +2 more
wiley   +1 more source

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series. [PDF]

Eur J Pediatr
Piastra M, Zito G, Orr AM, Picconi E, Ferrari V, Pezza L, Marzano L, Morena TC, De Rosa G, Onesimo R, Fedele MC, Tempera A, Genovese O, Racca F, Varone A, Spinazzola G, De Luca D, De Sanctis R, Pane M, Mercuri E, Conti G.   +20 more
europepmc   +1 more source

Vertically Aligned Nanopillar Electrodes: Engineered Interfaces for Electrophysiology and Cell‐Electrode Coupling

Small Methods, Volume 10, Issue 11, 8 June 2026.
The graphic provides an overview of the emerging field of high‐surface area vertically aligned nanopillar electrodes for electrophysiological measurements. It depicts various types of electrodes; materials, and the methods used for fabrication of vertically aligned nanopillar electrodes.
Mohammad Alzahrani, Ismat Kabbara, Shuhua Peng, Hoang‐Phuong Phan, Tushar Kumeria   +4 more
wiley   +1 more source

Single-dose GC101 gene therapy for spinal muscular atrophy types II and III: an open-label single-arm study. [PDF]

World J Pediatr
Ma XW, Jiang XY, Li ZQ, Dong XY, Ma WH, Wang YX, Yu SQ, Gu RJ, Wang XD, Zhong BM, He F, Xu J, Mao YY, Zhang YP, Zhang S, Li T, Li CY, Zhang S, Yang X, Zhu LN, Wu ZJ, Zhou B, Zhuang L, Li QP, Wu XB, Feng ZC.   +25 more
europepmc   +1 more source

Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies

, 2005
Hassan, Heba Fathy Ahmed
core  

Guidelines for Essential Trauma Care: Second Edition (2026)

World Journal of Surgery, Volume 50, Issue 6, Page 1409-1450, June 2026.
Injury is a major cause of death and disability globally, with the highest burden in low‐ and middle‐income countries (LMICs). Strengthening the organization and planning for trauma care (care of the injured) can improve care and lower mortality. In 2004, the International Association for Trauma Surgery and Intensive Care (IATSIC) and the World Health ...
Charles Mock, Timothy C. Hardcastle, Christine Gaarder, Amit Gupta, Adam Gyedu, Manjul Joshipura, Elmin Steyn, on behalf of the Essential Trauma Care revision author group, Valencia Adjei, Roger Alcock, Vanda Amado, Michael Boampong, Sanjeev Booi, Petra Brysiewicz, Corazon Cabanilla‐Manuntag, Cristiane de Alencar Domingues, Ghada Elhadari, Ranjith Nanda Ellawala, Sarnai Erdene, Ama Akoma Essuman, Jorge Esteban Foianini, Filippo Gatti, Armando Garcia Guererra, Greg Hynes, Adil Haider, Sandy Ingless, Balavenkata Jagannathan, Helen Jowett, Knut Magne Kolstadbråten, Sonja Krofak, Aireen Patricia Madrid, Tina Tomić Mahečić, Claude Martin, Daniel Ntogwrachu, Bisola Onajin‐Obembe, Nhobojit Roy, Andres Rubiano, Niisoja Mensah Torto, Ben Wachira, Meg Walmsley, Torben Wisborg, Elma Wong   +41 more
wiley   +1 more source

A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study. [PDF]

Lancet Reg Health West Pac
Balaji L, Forbes R, Cairns A, Sampaio H, Kornberg AJ, Sanders L, Lamont P, Liang C, Jones KJ, Nowak K, O'Gorman C, Woodcock I, Briggs N, Yiu EM, Farrar MA, Kariyawasam D.   +15 more
europepmc   +1 more source

Participation, environment, and quality of life in children with cerebral palsy and physical disabilities

Developmental Medicine &Child Neurology, Volume 68, Issue 6, Page 800-809, June 2026.
Abstract Aim To compare and examine relationships between participation, environmental factors, and quality of life (QoL) in children with cerebral palsy and physical disability (CP/PD) and typically developing children. Method Participants were 59 children (6–12 years; 31 females): 30 with CP/PD (mean age 8 years 7 months, standard deviation 1 year 6 ...
Nava Gelkop, Batya Engel‐Yeger
wiley   +1 more source

Cerebrospinal fluid metabolomics reveals predictive biomarkers of nusinersen therapy efficacy in type II and type III spinal muscular atrophy patients. [PDF]

Neurol Sci
Li D, Sun N, Wu H, Wang X, Shi Y, Yang L, Huang S, Zhang K, Yang C.   +8 more
europepmc   +1 more source

A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patients. [PDF]

Orphanet J Rare Dis
Li G, Xu K, Liu D, Wu N, Zhang TJ, Chen Y.   +5 more
europepmc   +1 more source