Results 101 to 110 of about 20,899 (290)

Establishment and Comparative Analysis of Radiation‐Induced Liver Disease in Normal and Fibrotic Rat Models

Precision Radiation Oncology, EarlyView.
This study successfully established two novel rat models of radiation‐induced liver disease (RILD), one in healthy livers and the other in TAA‐induced fibrotic livers, providing valuable insights into the combined effects of radiation and pre‐existing fibrosis.
Yanting Jiang, Yuxi Ding, Fang Wang, Danni Chen, Weixiang Zhong, Zhongjie Lu, Yixiang J. Wang, Senxiang Yan, Xiaoguang Liu, Feng Zhao   +9 more
wiley   +1 more source

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy [PDF]

, 2017
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
A Brockington, A Kaplan, A Neve, AH Bhat, AM Blokhuis, Anna A. L. Motyl, B Schrank, B Wirth, C Cifuentes-Diaz, C Fallini, C Fallini, C Fallini, Catherina G. Becker, CC Xu, CL Lorson, D Frey, D Zala, Derek Thomson, DG Nicholls, E Mercuri, E Somers, E Somers, EA Schon, EJ Groen, EJ Groen, Ewout J. N. Groen, FR Jornayvaz, G Acsadi, G Hamilton, G Le Masson, Gregory A. Cox, H Flanagan-Steet, Hannah K. Shorrock, HM Hsieh-Li, J Giacomotto, J Hegedus, J. Robin Highley, JE Taylor, JJ Harris, JM Dale, JM Flanagan, JN Sleigh, K Hasegawa, K See, KC Kanning, KJ Spiller, KK Ling, KK Ling, L Comley, L Kong, Laura C. Graham, LM Murray, LM Murray, M Dimitriadi, M Riessland, M Ripolone, M Westerfield, ML McWhorter, N Miller, N Noel, Nicholas M. Morton, P Verstreken, Paul R. Heath, Penelope J. Boyd, Q Cai, Q Liu, R Martinez-Hernandez, R Tejero, RA Powis, RA Powis, Rachael A. Powis, Roderick N. Carter, S Hosseinibarkooie, S Jang, S Kariya, S Lefebvre, S Massenet, S Saxena, S Saxena, SL Eaton, Sophie R. Thomson, SR Thomson, T Hao le, T Uetsuki, T Voigt, Thomas Becker, Thomas H. Gillingwater, Thomas M. Wishart, TM Wishart, TW Tefera, U Fischer, UR Monani, UR Monani, V Chavan, V Link, V Luzzi, W Rossoll, Wen-Yo Tu, X Chen, Y Morisaki   +99 more
core   +5 more sources

Multi‐Functional S‐HA/ASTA NPs Coating on Biodegradable ZE21B Alloy for Cerebrovascular Applications

Rare Metals, EarlyView.
ABSTRACT Magnesium (Mg) and its alloys have attracted extensive attention of researchers in the field of cerebrovascular implants due to their good mechanical properties and biosafety. However, rapid degradation and delayed endothelialization pose challenges. To address these issues, this study introduces a multifunctional composite coating.
Aqeela Yasin, Mujahid Iqbal, Yachen Hou, Jingan Li, Shaokang Guan   +4 more
wiley   +1 more source

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care

Arquivos de Neuro-Psiquiatria
Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
Rodrigo Holanda Mendonça, Juliane Suellen Arndt de Godoi, Edmar Zanoteli   +2 more
doaj   +1 more source

Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population [PDF]

, 2018
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routinescreening programme for SMA in the UK.
Ar Rochmah, Bailey, Bertini, Boardman, Boardman, Boardman, Boardman, Bombard, Botkin, Chiriboga, Dankert-Roelse, Friedman, Gavrilov, Grob, Himes, Kato, Kesari, Lawton, Lefebvre, Lefebvre, Lefebvre, Lin, Lunn, McClaren, Munsat, Munsat, O'Neill, Ogino, Ogino, Oprea, Parks, Prior, Prior, Prior, Prior, Rose, Rothwell, Schmidt, Swoboda, Timmermans, Tluczek, Wadman, Wang, Wirth, Wood, Xu, Young   +46 more
core   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Intrathecal administration of nusinersen for spinal muscular atrophy: report of three cases with severe spinal deformity

JA Clinical Reports, 2020
Background Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of the spinal cord, resulting in progressive muscle atrophy.
Sayo Nakao, Shinichi Yamada, Katsuya Tsuda, Taishi Yokomizo, Teruyuki Sato, Shuichi Tanoue, Teruyuki Hiraki   +6 more
doaj   +1 more source

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Neuromuscular Disorders, 2011
Spinal muscular atrophy (SMA) is caused by loss or mutations of the survival motor neuron 1 gene (SMN1). Its highly homologous copy, SMN2, is present in all SMA cases and is a phenotypic modifier. There are cases where asymptomatic siblings of typical SMA patients possess a homozygous deletion of SMN1 just like their symptomatic brothers or sisters ...
Bernal, S, Also-Rallo, E, Martinez-Hernandez, R, Alias, L, Rodriguez-Alvarez, FJ, Millan, JM, Hernandez-Chico, C, Baiget, M, Tizzano, EF   +8 more
openaire   +4 more sources

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

Developmental Medicine &Child Neurology, EarlyView.
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

Survival Motor Neuron (SMN) protein is required for normal mouse liver development [PDF]

, 2016
Spinal Muscular Atrophy (SMA) is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Decreased levels of, cell-ubiquitous, SMN protein is associated with a range of systemic pathologies reported in severe patients.
Francesco, M, Gillingwater, TH, Maxwell, GK, Parson, SH, Powis, RA, Szunyogova, E, Zhou, H   +6 more
core