Results 11 to 20 of about 130,299 (263)

A comparison of three electrophysiological methods for the assessment of disease status in a mild spinal muscular atrophy mouse model. [PDF]

PLoS ONE, 2014
OBJECTIVES:There is a need for better, noninvasive quantitative biomarkers for assessing the rate of progression and possible response to therapy in spinal muscular atrophy (SMA).
Jia Li, Tom R Geisbush, William D Arnold, Glenn D Rosen, Phillip G Zaworski, Seward B Rutkove   +5 more
doaj   +3 more sources

Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset neuromuscular disorder characterised by selective loss of motor neurons leading to fatal paralysis. Current therapeutic approaches are limited in their effectiveness. Substantial advances
A Gill, A Panatier, C Watson, C Zheng, Dominic J. Wells, DS Newman, EL Tudor, ET Cirulli, FJ Martinez, G Tedeschi, GM Alexander, HJ Chen, HM Kaneb, HMJ Kaneb, I Jotova, J Hegedus, J Mitchell, J Sasabe, J Sasabe, J Vincelette, Jacqueline P. Robbins, Jacqueline S. de Belleroche, JM Lincecum, JN Matthews, John C. W. Hildyard, JP Mothet, JP Taylor, Ke Liu, L-S Wu, LJ Wang, M Azzouz, M Azzouz, M Neumann, M Sasaki, ME Gurney, MJ Piesla, Nazanin Rahmani Kondori, P Paul, P Paul, Praveen Paul, PS Sharp, R Konno, R Konno, S McHanwell, S Scott, SL Almond, TG Hampton, Thomas H. Gillingwater, Y Li, Y Yang   +49 more
core   +7 more sources

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source

Viral delivery of antioxidant genes as a therapeutic strategy in experimental models of amyotrophic lateral sclerosis. [PDF]

, 2013
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with no effective treatment to date. Despite its multi-factorial aetiology, oxidative stress is hypothesized to be one of the key pathogenic mechanisms.
Azzouz, M, Higginbottom, A, Nanou, A, Ning, K, Shaw, P, Valori, CF, Wyles, M   +6 more
core   +1 more source

Decreased function of survival motor neuron protein impairs endocytic pathways [PDF]

, 2016
This document is the Accepted Manuscript version. The final, definitive version is available online at https://doi.org/10.1073/pnas.1600015113.Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN ...
Aaron Derdowski, Altar Sorkaç, Anne C. Hart, Avery, Bryn Bliska, David H. Hall, Fares, Geetika Kalloo, George Poulogiannis, Ken C. Q. Nguyen, Kübler, Maria Dimitriadi, Melissa S. Maginnis, Patrick O’Hern, Steven J. Cook, van Swinderen, Walter J. Atwood   +16 more
core   +2 more sources

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials. [PDF]

PLoS ONE, 2016
Spinal muscular atrophy (SMA) is caused by defects in the survival motor neuron 1 (SMN1) gene that encodes survival motor neuron (SMN) protein. The majority of therapeutic approaches currently in clinical development for SMA aim to increase SMN protein ...
Phillip Zaworski, Katharine M von Herrmann, Shannon Taylor, Sara S Sunshine, Kathleen McCarthy, Nicole Risher, Tara Newcomb, Marla Weetall, Thomas W Prior, Kathryn J Swoboda, Karen S Chen, Sergey Paushkin   +11 more
doaj   +1 more source

Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]

, 2008
The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina, Hof, Patrick R., Islam, Atiqul, Jovanov Milošević, Nataša, Krušlin, Božo, Lucassen, Paul J., Mladinov, Mihovil, Pajtak, Alen, Sertić, Jadranka, Šešo Šimić, Đurđica, Šimić, Goran   +10 more
core   +1 more source

Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery [PDF]

Arquivos de Neuro-Psiquiatria
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity.
Rodrigo de Holanda Mendonça, Hermann dos Santos Fernandes, Rafael Barbéro Schimmelpfeng Pinto, Ciro Matsui Júnior, Graziela Jorge Polido, André Macedo Serafim da Silva, Luis Fernando Grossklauss, Umbertina Conti Reed, Edmar Zanoteli   +8 more
doaj   +2 more sources

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]

, 2016
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J., Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Lane, Fiona M., Powis, Rachael A., Sherman, Diane L., Shorrock, Hannah K., Zheng, Yinan   +9 more
core   +7 more sources